Paediatric Long cases

Paediatric Long Cases

Here are some paediatric long case scenarios to help you learn through a Q&A format. These are typical of what you might encounter in exams or clinical discussions, focusing on common neurological presentations in children.

CNS Long Case: Epilepsy

Patient Summary

This is a 10-year-old boy who presented to the emergency department following three episodes of generalized tonic-clonic seizures today. The seizures were witnessed by his mother, who reports that he had not eaten all day. Each episode involved loss of consciousness, stiffening of his body followed by jerking of all four limbs, and lasted about 2-3 minutes, with a period of drowsiness and confusion afterward. There is no history of fever, head trauma, or recent illness. He has a history of Spastic Hemiplegic Cerebral Palsy and is on long-term anti-epileptic medication, but compliance has been an issue. On examination, he is in the post-ictal state but arousable. There are no signs of meningism or focal neurological deficits beyond his baseline hemiplegia. His blood sugar at presentation was low.

History: Key Areas to Explore

The history aims to characterize the seizure, identify triggers, assess the underlying diagnosis, and check management.

  • Seizure Semiology (The event itself):
    • Aura/Prodrome: Any warning signs before the seizure (e.g., a strange feeling, smell, or visual disturbance)?
    • Ictal Phase: A clear, chronological description. Was there loss of consciousness? What did the movements look like (stiffening – tonic, jerking – clonic)? Was it generalized or did it start in one part of the body and spread (focal onset)? Any cyanosis or incontinence?
    • Post-ictal Phase: What was he like immediately after? (e.g., confused, drowsy, headache, muscle soreness). This helps differentiate from syncope (which has a rapid recovery).
    • Duration & Frequency: How long did the seizure last? How many have occurred? (Multiple seizures constitute cluster seizures or status epilepticus).
  • Precipitating Factors (Triggers):
    • Medication Compliance: The most important question in a known epileptic. When was the last dose of his anti-epileptic drug (AED) taken?
    • Physiological Stress: Fever, sleep deprivation, illness.
    • Metabolic Issues: Missed meals leading to hypoglycemia (as in this case).
    • Photosensitivity: Flashing lights from video games or television (less common).
  • Underlying Etiology and Comorbidities:
    • Past Medical History: Details of his Cerebral Palsy (CP), including birth history (e.g., HIE). A pre-existing neurological condition like CP is a major risk factor for structural epilepsy.
    • Developmental History: Assess milestones to understand his baseline function.
    • Family History: Any history of epilepsy or seizures in the family?
  • Management History:
    • Current AEDs: Name, dose, and frequency of all medications.
    • Side Effects: Inquire about side effects of his current medication (e.g., sedation, behavioral changes, weight changes).
Examination: Important Findings

The examination looks for signs of an underlying cause, focal deficits, and rules out other urgent problems.

  • General Examination:
    • Vitals & Consciousness: Check GCS, blood glucose, temperature, and other vitals.
    • Neurocutaneous Stigmata: A thorough skin examination is vital to look for markers of neurophakomatoses, which are associated with seizures (e.g., tuberous sclerosis, neurofibromatosis). Look for:
      • Ash-leaf spots (hypopigmented macules, best seen with a Wood’s lamp).
      • Café-au-lait macules (>6 suggests NF1).
      • Facial angiofibromas (adenoma sebaceum).
  • Neurological Examination:
    • Cranial Nerves: A full assessment. Pay special attention to the fundi.
    • Fundoscopy: Essential to look for papilledema, which would suggest raised intracranial pressure (ICP) from a Space Occupying Lesion (SOL).
    • Motor & Sensory Systems: Assess for any new focal neurological deficit (e.g., hemiparesis, visual field defect) that wasn’t part of his baseline CP. A new focal deficit post-seizure could be a Todd’s paresis (transient) or indicate a new structural lesion.
    • Meningeal Signs: Check for neck stiffness to rule out a CNS infection as a cause.
What are the differential diagnoses for these episodes?

In a child presenting with a transient loss of consciousness and abnormal movements, it’s crucial to differentiate an epileptic seizure from its mimics.

  • Breakthrough Epileptic Seizure: Most likely in this patient, given his history and triggers (non-compliance, hypoglycemia).
  • Metabolic Causes:
    • Hypoglycemia: Can cause seizures. Always check a blood sugar level in any patient with altered consciousness or seizure.
    • Electrolyte Imbalance: Hypocalcemia, hyponatremia, hypomagnesemia.
  • Syncope: A faint. Usually has a clear trigger (prolonged standing, emotion), a prodrome of light-headedness and tunnel vision, and a very rapid recovery of consciousness. Brief convulsive movements (convulsive syncope) can occur due to cerebral hypoxia but are not a true epileptic seizure.
  • Space Occupying Lesion (SOL): A brain tumor or abscess presenting with new-onset seizures. The presence of new focal neurological signs or papilledema on examination would raise this suspicion.
  • Non-Epileptic Attack Disorder (Pseudoseizures): Psychogenic events. Often have features inconsistent with true seizures (e.g., pelvic thrusting, asynchronous movements, eyes closed tightly, crying during the event, rapid recovery without post-ictal confusion).
How would you investigate this child?

Investigations are aimed at finding the cause of the breakthrough seizures and ruling out dangerous alternatives.

  1. Bedside Investigations:
    • Blood Glucose: The single most important immediate test.
  2. Blood Tests:
    • Full Blood Count, Urea & Electrolytes, Calcium, Magnesium: To rule out metabolic or electrolyte disturbances.
    • Anti-epileptic Drug Levels: To check for compliance and ensure the level is within the therapeutic range.
  3. Neuroimaging:
    • MRI Brain: This is the imaging modality of choice to look for a structural cause of epilepsy. It is superior to CT for identifying subtle cortical dysplasias, hippocampal sclerosis, or low-grade tumors. An MRI should be considered in any child with epilepsy that is difficult to control or who has focal neurological signs.
  4. EEG (Electroencephalogram):
    • An EEG records the electrical activity of the brain. Its primary role is to help classify the seizure type (e.g., generalized vs. focal) and support the diagnosis of an epilepsy syndrome by detecting characteristic epileptiform discharges (e.g., spikes, sharp waves). A normal EEG does not rule out epilepsy.
How do you manage status epilepticus?

Status epilepticus is defined as a continuous seizure lasting more than 5 minutes, or two or more seizures without full recovery of consciousness in between. It is a medical emergency.

Step-by-Step Management Protocol:

  1. (0-5 mins) Stabilize the Patient:
    • Airway: Position the patient to prevent aspiration. Use airway-opening maneuvers.
    • Breathing: Administer high-flow oxygen. Monitor SpO2.
    • Circulation: Secure IV access.
    • Don’t Ever Forget Glucose: Check blood sugar immediately and treat hypoglycemia if present.
  2. (5-10 mins) First-Line Therapy (Benzodiazepines):
    • If IV access is available: IV Lorazepam.
    • If no IV access: Buccal Midazolam or Rectal Diazepam.
    • This dose can be repeated once if the seizure continues.
  3. (10-30 mins) Second-Line Therapy:
    • If seizures persist, start an IV infusion of a second-line AED. Call for senior help/anesthetist.
    • Options include: IV Levetiracetam, IV Phenytoin, or IV Phenobarbital. Levetiracetam is often preferred due to a better safety profile (no cardiac monitoring needed, fewer interactions). Phenytoin requires cardiac monitoring due to risk of arrhythmia and hypotension.
  4. (>30 mins) Third-Line Therapy (Refractory Status Epilepticus):
    • Transfer to ICU/HDU.
    • Anesthetic induction with agents like Midazolam, Propofol, or Thiopentone with continuous EEG monitoring.

CNS Long Case: Febrile Seizures

Patient Summary

This is a 2-year-old, previously healthy and developmentally normal girl, who is brought to the hospital after experiencing a seizure. Her mother reports she has had a fever, cough, and runny nose for two days. Today, she had two episodes of body shaking. The first seizure lasted about 5 minutes and was generalized. She recovered but remained febrile, and a second, similar seizure occurred 4 hours later. There is no history of head trauma, and her vaccinations are up to date. On examination, her temperature is 39.2°C. She is drowsy but consolable. Her throat is red, but the rest of the examination, including a neurological assessment for meningeal signs, is unremarkable.

History: Key Areas to Explore

The history is critical to distinguish between a simple and complex febrile seizure and to rule out a serious underlying infection like meningitis.

  • Seizure Details (to classify as Simple vs. Complex):
    • Duration: Was it less than 15 minutes? (A simple seizure is <15 mins).
    • Character: Was it generalized (affecting the whole body)? (A simple seizure is generalized tonic-clonic). Any focal features (e.g., shaking of only one arm or leg)?
    • Frequency: Was it a single seizure in a 24-hour period? (A simple seizure is a lone event). This patient had two, making it **complex**.
  • History of the Febrile Illness:
    • Source of Fever: Ask about symptoms of common childhood illnesses like URTI (cough, runny nose), otitis media (ear pulling, irritability), or gastroenteritis (diarrhea, vomiting).
    • Red Flags for CNS Infection: Ask specifically about headache, vomiting, photophobia, neck stiffness, or extreme irritability/lethargy.
  • Child’s Baseline:
    • Past Medical History: Confirm the child is neurologically normal with no prior afebrile seizures.
    • Developmental History: Are milestones appropriate for age? Febrile seizures occur in developmentally normal children.
    • Family History: Is there a family history of febrile seizures? (This is a significant risk factor).
Examination: Important Findings

The examination has two main goals: find the source of the fever and, most importantly, rule out meningitis.

  • Vitals and General State:
    • Measure temperature. Assess the child’s level of consciousness (is she appropriately post-ictal and recovering, or is she overly drowsy and toxic-looking?).
    • Look for signs of dehydration if there is a history of poor intake or vomiting/diarrhea.
  • Find the Source of Fever:
    • A full head-to-toe examination.
    • ENT: Check throat for pharyngitis/tonsillitis and ears for otitis media.
    • Respiratory: Listen to the chest for signs of pneumonia.
    • Skin: Look for a viral exanthem or any non-blanching rash (petechiae/purpura) which is a red flag for meningococcemia.
  • Rule Out Meningitis:
    • Meningeal Signs: This is the most critical part of the exam. In a 2-year-old, neck stiffness can be hard to assess. Look for parental-reported irritability when the neck is flexed. Kernig’s and Brudzinski’s signs may be present.
    • Fontanelle: If the anterior fontanelle is still open, check if it is flat and soft or full and bulging.
    • Neurological Assessment: Check for normal tone, power, reflexes, and cranial nerves.
What is the difference between a simple and complex febrile seizure?

This is a core concept. A seizure is classified as **complex** if it has any one of the following features. If it has none, it is **simple**.

Feature Simple Febrile Seizure Complex Febrile Seizure
Duration Less than 15 minutes Lasts longer than 15 minutes
Character Generalized (e.g., tonic-clonic) Has focal features (e.g., limited to one side of the body)
Frequency Occurs only once in a 24-hour period Multiple seizures occur within the 24-hour febrile illness
Post-ictal state Rapid recovery, no focal signs May have prolonged post-ictal drowsiness or transient focal weakness (Todd’s paresis)

Clinical Significance: Children with complex febrile seizures have a slightly higher risk of subsequent epilepsy compared to those with simple febrile seizures, although the absolute risk is still low. A complex seizure also lowers the threshold for investigating for a serious underlying cause like meningitis.

When would you perform a Lumbar Puncture (LP) in this child?

A lumbar puncture is not routine for a simple febrile seizure but must be strongly considered in specific situations to rule out meningitis or encephalitis.

Indications for LP:

  • Clinical Suspicion of Meningitis/Encephalitis: This is the primary indication. Any child with a febrile seizure who also has:
    • Meningeal signs (neck stiffness, positive Kernig’s/Brudzinski’s).
    • A bulging fontanelle.
    • Persistent altered consciousness or is not recovering as expected.
  • Age-Related Indications:
    • Infant < 12 months: An LP should be strongly considered, as the signs and symptoms of meningitis can be subtle or absent in this age group.
  • Other Red Flags:
    • The presence of petechiae or purpura.
    • If the child has received antibiotics before presentation, as this can mask the signs of meningitis.
    • Complex febrile seizure (this is a relative indication that lowers the threshold for an LP).

Contraindications to immediate LP include: signs of raised ICP (papilledema, Cushing’s triad, focal neurological signs), shock, significant coagulopathy, or infection at the LP site.

What advice would you give to the parents on discharge?

Parental education and reassurance are cornerstones of managing febrile seizures.

  1. Reassurance and Education:
    • Explain that simple febrile seizures are common (affecting 2-5% of children) and are generally benign.
    • Crucially, state that they do not cause brain damage or affect the child’s intelligence or development.
    • Explain that the risk of developing epilepsy later in life is only slightly higher than in the general population (around 1-2% for simple FS).
  2. Management of Future Febrile Illnesses:
    • Advise them to treat fever with antipyretics like Paracetamol or Ibuprofen for the child’s comfort, but explain that this has not been proven to prevent the recurrence of febrile seizures. This helps manage “fever phobia.”
  3. Action Plan for Another Seizure:
    • Stay calm. Place the child on their side (recovery position) on a soft, safe surface (like the floor), away from hard or sharp objects.
    • Do not put anything in their mouth. Do not restrain them.
    • Time the seizure.
    • Call for emergency medical help if the seizure lasts longer than 5 minutes or if the child has difficulty breathing or turns blue.
  4. Recurrence Risk: Inform them that there is about a 30% chance of having another febrile seizure with a future illness. Risk factors for recurrence include a family history of febrile seizures, a young age (<18 months) at the first seizure, and a relatively low fever at the time of the seizure.

CNS Long Case: CNS Infections (Meningitis/Encephalitis)

Patient Summary

A 4-year-old girl is brought to the emergency room with a one-day history of high fever, vomiting, and a first-time seizure. The seizure was generalized, lasted approximately 5 minutes, and occurred about an hour before arrival. Since the seizure, she has been extremely irritable and difficult to console, with a high-pitched cry. Her mother notes she has been complaining that the lights are “too bright.” Her vaccination history is incomplete. On examination, she is febrile (39.5°C), tachycardic, and visibly photophobic. She resists neck flexion, and a positive Kernig’s sign is elicited. There is no rash.

History: Key Areas to Explore

The history must aggressively seek out red flags for a serious CNS infection.

  • The “Meningitis Triad”:
    • Fever: Onset, height, and pattern.
    • Headache: A key symptom, though a young child may just present with irritability.
    • Neck Stiffness: Often reported by parents as the child being unwilling to move their head or crying on neck flexion.
  • Associated Symptoms:
    • Altered Mental Status: This is a critical sign. Ask about irritability, drowsiness, confusion, or a high-pitched cry.
    • Vomiting: Can be a sign of general illness or specifically of raised intracranial pressure (ICP).
    • Photophobia: Sensitivity to light is a classic sign of meningeal irritation.
    • Seizures: A new-onset seizure in a febrile, unwell child is highly suspicious for a CNS infection.
  • Predisposing Factors:
    • Recent Infections: Inquire about preceding otitis media, sinusitis, or pneumonia, as these can be sources for bacteremia.
    • Sick Contacts: Contact with anyone with a similar illness.
    • Vaccination History: This is vital. Specifically ask about vaccines against common meningitis pathogens: HiB (Haemophilus influenzae type b), PCV (Pneumococcus), and MenC/MenACWY (Meningococcus). An incomplete schedule significantly raises suspicion.
Examination: Important Findings

The examination is focused on confirming clinical suspicion and identifying signs of severity or complications.

  • General Examination and Vitals:
    • Assess for Toxicity: Does the child look unwell? Assess perfusion, capillary refill, and check for signs of shock (hypotension, tachycardia).
    • Consciousness Level: Use the GCS or AVPU scale.
    • Rash: Carefully inspect the entire body for a non-blanching petechial or purpuric rash, a hallmark of meningococcal septicemia.
  • Neurological Examination:
    • Signs of Meningeal Irritation:
      • Neck Stiffness: Formal assessment of resistance to passive neck flexion.
      • Kernig’s Sign: Resistance and pain on extending the knee when the hip is flexed to 90 degrees.
      • Brudzinski’s Sign: Spontaneous flexion of the hips and knees upon passive flexion of the neck.
    • Signs of Raised Intracranial Pressure (ICP):
      • Fundoscopy: Look for papilledema (though it may be absent in acute meningitis).
      • Bulging Fontanelle: If still patent.
      • Cushing’s Triad: Hypertension, bradycardia, irregular respirations (a late and life-threatening sign).
    • Focal Neurological Deficits: Check for cranial nerve palsies (especially III, IV, VI, VII), hemiparesis, or other focal signs which may suggest complications like a subdural empyema or stroke.
What are your initial investigations and immediate management?

This is a medical emergency. Management must be initiated simultaneously with investigation. **Do not delay antibiotics for investigations if the child is unstable.**

Immediate Management (ABCDE Approach):

  1. Airway & Breathing: Ensure a patent airway. Provide high-flow oxygen via a non-rebreather mask.
  2. Circulation:
    • Secure IV/IO access immediately.
    • If signs of shock are present, give a 20 ml/kg bolus of 0.9% saline.
  3. Bloods & Empiric Treatment:
    • Draw blood for: FBC, U&E, CRP, blood cultures, clotting screen, and glucose.
    • Give IV Antibiotics STAT: Empiric treatment should be given immediately after cultures are drawn. A common choice is IV Ceftriaxone.
    • Give IV Acyclovir: To cover for Herpes Simplex Virus (HSV) encephalitis, which can mimic bacterial meningitis.
    • Consider Dexamethasone: Give IV dexamethasone just before or with the first dose of antibiotics to reduce the risk of sensorineural hearing loss.
  4. Lumbar Puncture (LP):
    • If the patient is stable and there are no contraindications (signs of very high ICP, shock, coagulopathy), proceed with an LP to obtain CSF for analysis. **This is the definitive diagnostic test.**
How do you interpret the CSF findings?

CSF analysis is crucial for differentiating the cause of meningitis.

CSF Parameter Bacterial Meningitis Viral Meningitis TB Meningitis
Appearance Cloudy / Turbid / Purulent Clear Clear or opalescent; fibrin web may form on standing
Opening Pressure High Normal or slightly high Very high
White Cell Count High (100s to 1000s)
>80% Neutrophils		 Moderately high (10s to 100s)
>80% Lymphocytes		 Moderately high (10s to 100s)
Lymphocyte predominant
Protein High (>1 g/L) Normal or slightly high Very high (>1.5 g/L)
Glucose Low (<50% of serum glucose) Normal Very Low (<33% of serum glucose)
Other Tests Gram stain, Culture, PCR Viral PCR (e.g., Enterovirus, HSV) AFB stain (low yield), TB PCR, TB culture (gold standard)
Why shouldn’t you wait to do the LP before giving antibiotics?

This is a critical safety principle in managing suspected bacterial meningitis.

  • “Time is Brain”: Bacterial meningitis is a rapidly progressive disease. The mortality and risk of severe long-term neurological sequelae (e.g., hearing loss, cognitive impairment, epilepsy) increase significantly for every hour that effective antibiotic treatment is delayed.
  • Treatment is the Priority: The primary goal is to save the child’s life and brain function. The benefits of immediate antibiotic administration far outweigh the potential downside of slightly reduced diagnostic yield from the LP.
  • LP can be Delayed: An LP may be contraindicated or delayed if the patient is unstable (in shock), has focal neurological signs (requiring a CT scan first to rule out raised ICP), or if the procedure is technically difficult. In any of these scenarios, antibiotics must not be withheld.
  • Impact on CSF: While giving antibiotics before an LP can begin to sterilize the CSF (reducing the chance of a positive Gram stain or culture), the other parameters (cell count, protein, glucose) will still remain abnormal and highly suggestive of bacterial meningitis for several hours, guiding further management. Blood cultures taken before antibiotics also provide a crucial chance to identify the organism.

The rule is simple: In a child with suspected bacterial meningitis, draw blood for cultures and give empiric antibiotics immediately.

Gastroenterology Long Case: Acute Gastroenteritis

Patient Summary

This is a 3-year-old boy who presents with a 5-day history of profuse, watery, non-bloody loose stools and vomiting. Today, he had a brief, generalized tonic-clonic seizure lasting 2 minutes, which his mother says has happened on 6 previous occasions with similar illnesses (febrile convulsions). On examination, the child is febrile, irritable, and has signs of some dehydration (dry mucous membranes, reduced skin turgor, tachycardia). There is no abdominal tenderness. Given the watery nature of the diarrhea and absence of blood, a viral etiology is most likely.

History: Key Areas to Explore

The history in Acute Gastroenteritis (AGE) focuses on assessing the degree of dehydration, identifying the likely cause, and ruling out complications.

  • Assessing Dehydration (The most important task):
    • Intake: How much fluid is the child taking? Is he breastfeeding? Can he keep anything down?
    • Output:
      • Diarrhea: Frequency, volume, consistency (watery, loose), presence of blood or mucus.
      • Vomiting: Frequency and volume.
      • Urine: When was the last time he passed urine? How many wet diapers in the last 24 hours? (Reduced urine output is a key sign).
    • General State: Is the child alert and playful, or irritable and lethargic? Lethargy is a sign of severe dehydration.
  • Determining Etiology (Viral vs. Bacterial):
    • Viral features (most common): Profuse watery diarrhea, prominent vomiting, low-grade fever, absence of blood.
    • Bacterial features (more concerning): High fever, severe abdominal pain, presence of blood and/or mucus in the stool (dysentery), systemic toxicity.
  • History of Complications:
    • Febrile Convulsions (FC): As seen in this patient. Ask for details of the seizure to confirm it was a typical FC.
    • Hypoglycemia: Ask about symptoms of jitteriness, excessive drowsiness, or seizures, especially in young infants who have poor glycogen stores.
  • Background and Social History:
    • Source of water, food hygiene practices, recent travel, or contact with others with similar symptoms.
Examination: Important Findings

The examination is to clinically confirm and grade the level of dehydration.

Sign No Dehydration Some Dehydration (5-10%) Severe Dehydration (>10%)
General Condition Well, alert Restless, irritable Lethargic, unconscious, floppy
Eyes Normal Sunken Very sunken and dry
Tears Present Absent Absent
Mouth & Tongue Moist Dry Very dry / “parched”
Thirst Drinks normally Thirsty, drinks eagerly Drinks poorly or unable to drink
Skin Turgor Pinch retracts immediately Pinch retracts slowly Pinch retracts very slowly (>2s)
Pulse Normal rate Rapid Very rapid and weak; may be impalpable
Capillary Refill <2 seconds Prolonged Very prolonged (>3-4s)

Other important points: check for fever, assess nutritional status (MAM/SAM), and perform a full systemic exam to rule out other sources of infection.

How do you manage this child (fluid management)?

Fluid management is guided by the WHO treatment plans for dehydration.

  • Plan A: No Dehydration – Home Management
    • Goal: Prevent dehydration.
    • Fluid: Give extra fluids (as much as the child will take). Use Oral Rehydration Solution (ORS), breast milk, or other home fluids. Give ~50-100 mL of ORS after each loose stool for a child <2 years.
    • Feeding: Continue normal feeding to prevent malnutrition.
    • Zinc: Start zinc supplementation.
  • Plan B: Some Dehydration – Oral Rehydration Therapy in Hospital
    • Goal: Correct dehydration.
    • Fluid: Give 75 ml/kg of ORS over 4 hours under supervision.
    • Assessment: Reassess the child after 4 hours. If hydration has improved, move to Plan A. If signs of severe dehydration appear, move to Plan C.
  • Plan C: Severe Dehydration – IV Fluid Resuscitation
    • Goal: Urgent rehydration to prevent shock.
    • Fluid: Start IV fluids immediately. Give 100 ml/kg of Ringer’s Lactate or Normal Saline, divided as follows:
      • Infants (<1 year): 30 ml/kg in the first hour, then 70 ml/kg over the next 5 hours.
      • Children (>1 year): 30 ml/kg in the first 30 minutes, then 70 ml/kg over the next 2.5 hours.
    • Assessment: Reassess frequently. Once the child can drink, start ORS alongside IV fluids.
What investigations would you do and what are their important findings?

For most cases of viral AGE, investigations are not needed. They are reserved for severe, prolonged, or atypical cases.

  • Bedside Test for AGE (Stool pH): A simple bedside test is to check the stool pH. Viral AGE often causes lactose malabsorption, leading to fermentation of sugars in the colon, which produces an acidic stool (pH < 5.5) and the presence of reducing substances.
  • Blood Tests:
    • Urea & Electrolytes: Essential in moderate-severe dehydration or if IV fluids are needed. Look for electrolyte abnormalities (hyponatremia, hypernatremia, hypokalemia) and evidence of acute kidney injury (raised urea and creatinine).
    • Blood Glucose: Should be checked in any child with altered consciousness or seizure.
  • Stool Examination:
    • Stool Full Report: To look for red blood cells and white blood cells (pus cells), which suggest an invasive bacterial cause.
    • Stool Culture: If bacterial dysentery is suspected.
    • Stool for Rotavirus antigen: If needed for epidemiological purposes.
What does ZnSO4 do and how does it work?

The WHO and UNICEF recommend zinc supplementation for all children with diarrhea.

  • Effect: Zinc supplementation has been proven to reduce the duration and severity of the current diarrheal episode and also reduces the risk of subsequent episodes in the following 2-3 months.
  • Mechanism of Action: Zinc is a crucial micronutrient for the immune system and for intestinal mucosal integrity. It works by:
    • Enhancing the absorption of water and electrolytes by the gut.
    • Promoting the regeneration of the intestinal epithelium.
    • Boosting the production of antibodies and lymphocytes to fight the infection.
  • Dose: 10 mg/day for infants < 6 months, and 20 mg/day for children > 6 months, given for 10-14 days.
What do probiotics do?

Probiotics are live microorganisms that, when administered in adequate amounts, confer a health benefit on the host.

  • Role in AGE: Certain strains (like Lactobacillus rhamnosus GG and Saccharomyces boulardii) have been shown in some studies to modestly reduce the duration of watery diarrhea (by about one day), particularly in cases of viral gastroenteritis.
  • Mechanism: They are thought to work by competing with pathogenic organisms for gut adherence, producing antimicrobial substances, and modulating the local immune response.
  • Current Status: While promising, their routine use is still debated and not as strongly recommended as ORS and Zinc.
What advice do you give on diet?

Dietary advice is a key component of management.

  • Do NOT stop feeding: This is the most important message. Withholding food can lead to malnutrition and prolong recovery.
  • Continue Breastfeeding: For breastfed infants, feeding should be continued and even increased in frequency.
  • Reintroduce Food Early: As soon as dehydration is corrected (or during rehydration if the child is not dehydrated), the child’s usual diet should be restarted.
  • What to Eat: Offer small, frequent meals. Focus on nutrient-rich, easily digestible foods like rice, porridge, yogurt, soup, and bananas.
  • What to Avoid: Avoid sugary drinks (like carbonated sodas or commercial fruit juices) as their high osmolarity can worsen diarrhea. Temporarily avoiding very fatty or spicy foods may also be helpful.

Haematology Long Case: Thalassemia Major

Patient Summary

This is a 6-year-old boy diagnosed with Beta-Thalassemia Major at 9 months of age. He initially required blood transfusions monthly, but the frequency has recently increased to every 3 weeks, suggesting developing hypersplenism. He is on an oral iron chelator, Deferasirox, but his last serum ferritin level was elevated at 1090 ng/mL. He presents today for his scheduled transfusion. On examination, he appears pale with mild scleral icterus. There is evidence of frontal bossing and maxillary prominence (chipmunk facies). His abdomen is soft, with a palpable spleen 4 cm below the costal margin. He is currently awaiting a bone marrow transplant.

Why has his transfusion frequency increased?

An increasing transfusion requirement (i.e., a shortening interval between transfusions needed to maintain the target pre-transfusion Hb) is the hallmark of hypersplenism.

  • Mechanism of Hypersplenism:
    1. The spleen, enlarged due to its role in extramedullary hematopoiesis and clearing defective RBCs, becomes overactive.
    2. It begins to sequester and destroy not only the patient’s abnormal red cells but also the transfused donor red cells at an accelerated rate.
    3. This leads to a shorter survival of transfused RBCs, causing the patient’s hemoglobin to drop more quickly and requiring more frequent transfusions.
    4. Hypersplenism can also lead to thrombocytopenia and leukopenia (pancytopenia).
  • How to identify hypersplenism: Clinically by the increasing transfusion requirement and a progressively enlarging spleen. Blood tests may show pancytopenia.
  • Management: If hypersplenism becomes severe (causing a massive increase in transfusion needs or symptomatic pancytopenia), a splenectomy may be considered.
All about Iron Chelators (Deferasirox, Desferrioxamine)

What iron chelator is he on? Deferasirox (oral).

How do you advise to take Deferasirox? It’s a once-daily oral medication. The dispersible tablets should be mixed in a glass of water or juice until a fine suspension is formed, and then drunk immediately, preferably on an empty stomach at the same time each day.

What are the adverse effects of Deferasirox?

  • Common: Gastrointestinal upset (nausea, vomiting, diarrhea, abdominal pain).
  • Important: Renal impairment (a non-progressive rise in serum creatinine is common and requires monitoring), and elevated liver transaminases.

What are the side effects of Desferrioxamine (DFO)? (The older, subcutaneous chelator).

  • Local skin reactions at the infusion site.
  • Toxicity (with high doses/low ferritin): Auditory toxicity (high-frequency sensorineural hearing loss) and ocular toxicity (retinopathy).
  • Growth retardation.
What are the complications of iron overload and how do you look for them?

Complications (from iron deposition):

  • Heart: Dilated cardiomyopathy, arrhythmias, heart failure. (Leading cause of death).
  • Liver: Fibrosis, cirrhosis, increased risk of hepatocellular carcinoma.
  • Endocrine: Hypogonadism (delayed puberty), Hypothyroidism, Diabetes Mellitus, Hypoparathyroidism, Growth failure.
  • Bones: Osteoporosis.

How to look for them (Monitoring):

  • Serum Ferritin: Every 3 months. Goal is <1000 ng/mL. (Expected ferritin level should be in this range).
  • MRI T2*: Annually. This is the non-invasive gold standard to quantify iron in the heart and liver and is essential to guide chelation.
  • Annual Screening:
    • Cardiac: Echocardiogram, ECG.
    • Endocrine: Oral Glucose Tolerance Test (OGTT), thyroid function, calcium levels, monitoring of growth and puberty.
All about Transfusions

What type of blood do you transfuse? Packed red blood cells that are leukodepleted (white blood cells removed). This is crucial to reduce the risk of febrile non-hemolytic transfusion reactions, CMV transmission, and alloimmunization.

What kind of reaction occurs if you transfuse blood with WBCs?

  • Febrile Non-Hemolytic Transfusion Reaction (FNHTR): The most common type. Caused by cytokines released from donor leukocytes. Patient develops fever and chills during or shortly after the transfusion.

How to manage a fever 5 mins after transfusion starts?

  1. Stop the transfusion immediately.
  2. Maintain the IV line with normal saline.
  3. Check vital signs and assess the patient.
  4. Check for clerical errors (right blood for the right patient).
  5. Notify the blood bank. A hemolytic reaction must be ruled out (send patient blood and urine samples, and the blood bag back to the lab).
  6. If it’s determined to be a simple FNHTR, give antipyretics. The transfusion is usually NOT restarted with the same pack.

How do you discard the pack? It should be sent back to the blood bank for investigation as part of the transfusion reaction protocol.

Inheritance and Future Fertility

What is the inheritance of thalassemia? It is an autosomal recessive condition. This means both parents must be carriers (have thalassemia trait) to have an affected child. For each pregnancy, there is a 25% chance of an affected child, a 50% chance of a carrier child, and a 25% chance of an unaffected child.

Are they having future fertility wishes? / What is your advice if they are planning for another child?

  • Counsel the parents about the 25% recurrence risk in each pregnancy.
  • Inform them about the availability of prenatal diagnosis. This can be done via chorionic villus sampling (CVS) around 10-12 weeks of gestation or amniocentesis around 16 weeks to test the fetus’s DNA.
  • Offer genetic counseling and carrier screening for the extended family.
  • Discuss future fertility of the patient himself. Poorly controlled iron overload can cause hypogonadism and infertility. Good chelation therapy and management can preserve fertility. Options like sperm banking can be discussed as he gets older.
Bone Marrow Transplant and Other Questions

Why is the transplant delayed? Delays can be due to a lack of a suitable HLA-matched donor, the patient not being medically fit (e.g., poorly controlled iron overload, active infection), or financial/logistical constraints.

Is transplant done in Sri Lanka? Yes, HSCT services are available in Sri Lanka.

Dietary advice specially given to them? Advise them to maintain a healthy, balanced diet but to avoid iron-rich foods (like red meat, liver) and iron-fortified cereals. Drinking tea with meals can help reduce iron absorption.

Haematology Long Case: Hemophilia

Patient Summary

This is an 8-year-old boy, diagnosed with severe Hemophilia A at 3 months of age, who presents to the ward with a painful, swollen right knee for the past day. This is his second major joint bleed. He has a history of presenting with a large hematoma at 3 months. He is managed with on-demand factor replacement therapy. There is no family history of bleeding disorders. On examination, he is in pain. The right knee is visibly swollen, warm to the touch, and has a markedly restricted range of motion due to pain and effusion (hemarthrosis). His BMI is low, suggesting underlying malnutrition.

How do you diagnose Hemophilia?

Diagnosis is based on clinical suspicion and confirmed with laboratory tests.

  • Clinical Presentation: Unexplained, spontaneous, or excessive bleeding, especially into joints (hemarthrosis) and muscles. In infants, it may present after circumcision or with large hematomas.
  • Coagulation Studies:
    • APTT (Activated Partial Thromboplastin Time): This will be prolonged, as it assesses the intrinsic pathway where Factors VIII and IX are located.
    • PT (Prothrombin Time) and Platelet Count: These will be normal.
  • Factor Assays: The definitive test is to measure the specific activity levels of Factor VIII and Factor IX.
    • Low Factor VIII level confirms Hemophilia A.
    • Low Factor IX level confirms Hemophilia B.
  • Categorizing Severity:
    • Severe: < 1% factor activity (spontaneous bleeding).
    • Moderate: 1-5% factor activity (bleeding after minor trauma).
    • Mild: 5-40% factor activity (bleeding after surgery or major trauma).
How do you manage this boy who comes to the ward with a swollen, painful joint?

This is an acute hemarthrosis, a medical emergency for a hemophilia patient.

  1. Immediate Factor Replacement: This is the most critical step. Administer the appropriate clotting factor concentrate (recombinant or plasma-derived Factor VIII) intravenously. The dose is calculated to raise the factor level to ~80-100% for a major bleed. Time is tissue!
  2. R.I.C.E. Protocol:
    • Rest: Immobilize the joint to prevent further bleeding and pain.
    • Ice: Apply ice packs to the knee to cause vasoconstriction and reduce swelling.
    • Compression: Apply a compression bandage.
    • Elevation: Elevate the leg.
  3. Pain Management:
    • Administer analgesia like Paracetamol or weak opioids.
    • AVOID NSAIDs (like Ibuprofen) and Aspirin as they inhibit platelet function and can worsen bleeding.
  4. Physiotherapy: Once the acute bleeding has stopped (after 24-48 hours), gentle physiotherapy is crucial to restore the range of motion, strengthen surrounding muscles, and prevent long-term joint damage (hemophilic arthropathy).
What are the indications for and complications of prophylactic factor treatment?

Prophylaxis is the standard of care for severe hemophilia.

Indications:

  • The primary indication is severe hemophilia (<1% factor activity).
  • It involves regular, scheduled infusions of factor concentrate (e.g., 2-3 times a week for Hemophilia A) to maintain a trough factor level high enough to prevent most spontaneous bleeds.
  • The goal is to prevent debilitating and irreversible joint damage (arthropathy) and life-threatening bleeds, converting a severe phenotype into a moderate one.

Complications of Prophylactic Treatment:

  1. Inhibitor Development: This is the most serious complication. The patient’s immune system recognizes the infused factor concentrate as foreign and develops antibodies (inhibitors) against it. These inhibitors neutralize the factor, rendering treatment ineffective. This occurs in about 20-30% of patients with severe Hemophilia A.
  2. Transmitted Infections: Historically, patients were at high risk of HIV and Hepatitis B/C from plasma-derived products. Modern viral inactivation processes and the use of recombinant products have made this risk extremely low today. (Babies are protected from Hep B through the universal vaccination program).
  3. Venous Access Issues: Repeated IV infusions can lead to difficulties with peripheral veins, often requiring the insertion of a central venous access device (e.g., Port-a-cath), which has its own risks of infection and thrombosis.
If there is no family history, how did this boy get it? (Inheritance)

Hemophilia A is an X-linked recessive disorder. This explains how it can appear in a family with no prior history.

  • X-Linked Inheritance: The gene for Factor VIII is on the X chromosome. Males (XY) who inherit a faulty gene on their single X chromosome will have the disease. Females (XX) are typically carriers.
  • Sporadic Cases: About one-third of all cases of severe hemophilia are sporadic, meaning they are the first to occur in a family. This happens in two ways:
    1. The boy’s mother is a carrier, but she herself is the result of a new mutation (i.e., the mutation occurred when she was conceived, and it wasn’t present in her parents).
    2. The mother is not a carrier, and a new spontaneous mutation occurred in the gene during the formation of the egg or sperm that created the affected boy.
What advice do you give to parents about managing the child at home?
  • Emergency Plan: Teach them to recognize the signs of a bleed (pain, swelling, warmth, limited movement). Emphasize that they must seek medical help immediately for any suspected bleed, especially head, neck, or abdominal bleeds.
  • Home Safety: Advise on creating a safe environment for a toddler (e.g., padding sharp corners).
  • Activity Modification: Encourage safe physical activities like swimming and cycling to build strong muscles that protect joints. They must avoid high-contact sports like rugby or boxing.
  • Dental Care: Stress the importance of excellent oral hygiene to prevent gum bleeds and the need for dental procedures.
  • Medications to Avoid: Provide a clear list of medications to avoid, especially NSAIDs and aspirin.

Haematology Long Case: Immune Thrombocytopenic Purpura (ITP)

Patient Summary

This is a 15-year-old girl who was referred from the ophthalmologist after being noted to have a subconjunctival hemorrhage. She is otherwise completely well and has no other bleeding manifestations. She reports having a viral-like illness about two weeks ago but is now asymptomatic. She denies any easy bruising, gum bleeding, or heavy periods. There is no significant family history. On examination, she looks well. A right subconjunctival hemorrhage is noted. There are a few scattered petechiae over her shins but no purpura or active bleeding. The rest of the systemic examination is normal, with no palpable lymph nodes or spleen.

What is your diagnosis or differential diagnosis (Dx or DDx)?

Top Diagnosis: Immune Thrombocytopenic Purpura (ITP). This is the most likely diagnosis given her age, the preceding viral illness, and the isolated finding of low platelets (inferred from bleeding signs) in an otherwise well child.

Differential Diagnosis (other causes of thrombocytopenia):

  • Leukemia/Aplastic Anemia: This is the most important DDx to rule out. In these conditions, thrombocytopenia would be accompanied by abnormalities in other cell lines (anemia, neutropenia) and the child would likely be unwell (fever, bone pain, lethargy). The presence of hepatosplenomegaly or lymphadenopathy would be a major red flag.
  • Drug-Induced Thrombocytopenia: A thorough drug history is needed.
  • Systemic Lupus Erythematosus (SLE): ITP can be the presenting feature of SLE. A review of systems for other features (malar rash, arthritis, etc.) is important.
  • Inherited Thrombocytopenias: (e.g., Bernard-Soulier syndrome). These are rare and usually present earlier with a lifelong history of bleeding.
What investigations would you do and what would you see on the blood picture?

The investigations are to confirm thrombocytopenia and exclude other serious causes.

  • Full Blood Count (FBC) and Peripheral Blood Smear: This is the key investigation.
    • FBC Findings: Will show isolated thrombocytopenia (low platelet count). The hemoglobin, white blood cell count, and differential counts will be normal.
    • Peripheral Smear Findings: Will confirm the low platelet count. Importantly, it will show that the platelets that are present are large (megathrombocytes), indicating that the bone marrow is healthy and actively trying to produce new platelets. The red and white cell morphology will be normal, and critically, there will be no blast cells (which would indicate leukemia).
  • Other Investigations (only if indicated):
    • Bone Marrow Aspiration: This is not routinely required for a typical case of childhood ITP. It is reserved for cases with atypical features (e.g., abnormalities in other cell lines, hepatosplenomegaly) or before starting treatment with steroids if the diagnosis is uncertain. It would show an increased number of megakaryocytes.
    • ANA (Anti-Nuclear Antibody): To screen for underlying SLE, especially in an adolescent female.
Is that investigation (FBC/Smear) enough to treat, or do you want to do more?

For a child presenting with a typical history and examination for ITP, a Full Blood Count and Peripheral Blood Smear showing isolated thrombocytopenia with large platelets is sufficient to make a confident clinical diagnosis and to initiate treatment if required.

Further investigation, particularly a bone marrow examination, is not necessary unless there are atypical features, as mentioned above. The key is that the other cell lines (red cells and white cells) are normal.

She was given IVIg. Is it correct to give IVIg? What are the indications for IVIg?

The decision to treat ITP is based not on the platelet count alone, but on the severity of bleeding.

Indications for Treatment in Childhood ITP:

  • The vast majority of children with ITP have only minor skin bleeding (petechiae) and require no treatment other than observation (“watchful waiting”), as over 80% will recover spontaneously within 6-12 months.
  • Treatment is reserved for children with significant or life-threatening bleeding. This includes:
    • Severe mucosal bleeding (e.g., persistent epistaxis, oral blood blisters, melena).
    • Suspicion of intracranial hemorrhage (a very rare but devastating complication).
    • Needed for urgent surgery or procedure.
    • Significant impact on quality of life.

Is it correct to give IVIg?

In this specific case of a girl with only a subconjunctival hemorrhage and a few petechiae, treatment was likely not strictly necessary and observation would have been a reasonable option. However, IVIg is a valid first-line treatment choice when a rapid increase in platelet count is desired.

Indications for IVIg (as a treatment option):

  • It is used as a first-line therapy (along with steroids) for ITP patients who require treatment due to significant bleeding.
  • It works by blocking the Fc receptors on macrophages in the spleen, preventing them from destroying antibody-coated platelets.
  • It produces the most rapid rise in platelet count (often within 24-48 hours), making it the treatment of choice for emergency situations like active, severe bleeding.
Benefits vs Steroids and IVIg / Why should you not treat straight away with steroids?

Both corticosteroids and IVIg are effective first-line treatments for ITP, and the choice depends on the clinical situation, side effect profiles, and desired speed of response.

Feature Corticosteroids (e.g., Prednisolone) Intravenous Immunoglobulin (IVIg)
Mechanism Suppresses the immune system, reducing autoantibody production. Blocks Fc receptors on macrophages, preventing platelet destruction.
Onset of Action Slower rise in platelet count (several days to a week). Rapid rise in platelet count (24-48 hours).
Administration Oral. Easy and inexpensive. Intravenous infusion over several hours. Requires hospitalization. Expensive.
Side Effects Short-term: Mood changes, increased appetite, weight gain, gastritis, hyperglycemia.
Long-term: Growth suppression, Cushing’s syndrome, osteoporosis, cataracts.		 Headache (can be severe, aseptic meningitis), fever, chills, nausea. Small risk of anaphylaxis and thrombosis.

Why not treat straight away with steroids?

The main reason for caution before starting steroids is diagnostic certainty. Steroids can mask an underlying diagnosis of leukemia by temporarily improving blood counts and inducing remission, which can delay the correct diagnosis and treatment. This is why some clinicians prefer to perform a bone marrow aspirate before committing a patient with atypical features to a course of steroids. For IVIg, this is not a concern.

How do you address her parents’ concerns over her condition?

Parental anxiety is high, and communication is key.

  1. Explain the Diagnosis Clearly: Describe ITP as a condition where the body’s own immune system mistakenly attacks and removes platelets. Emphasize that it is not cancer and the bone marrow is healthy and trying to make new platelets.
  2. Reassure about Prognosis: Explain that in children, ITP is usually a temporary condition. More than 80% of children have a full recovery within a year, often much sooner. The risk of serious bleeding, especially intracranial hemorrhage, is very low (<1%).
  3. Explain the Management Plan: Whether it’s “watchful waiting” or active treatment, explain the rationale. If observing, explain that treatment is not needed because the bleeding is not dangerous, and you want to avoid unnecessary side effects from medication.
  4. Provide “Safety Net” Advice and Activity Restriction:
    • Give clear instructions on when to seek immediate medical help (e.g., head injury, severe headache, uncontrollable bleeding).
    • Advise restriction from high-risk contact sports (rugby, football, climbing) while the platelet count is very low. Encourage safe activities like swimming.
    • Advise avoiding medications like aspirin and NSAIDs.
  5. Plan for Follow-up: Arrange regular follow-up appointments to monitor platelet counts and symptoms. This provides a structured plan and reassures the family that the child is being monitored closely.

Neonatology Long Case: Neonatal Jaundice (NNJ)

Patient Summary

This is a 11-day-old neonate, born at term, who is brought in for significant jaundice. The mother, a nurse, is concerned about the baby’s poor suckling and increasing sleepiness over the past two days. The baby has clinical features suggestive of Trisomy 21 (Down’s Syndrome), including a flattened facial profile and upslanting palpebral fissures, though this has not been formally diagnosed. On examination, the baby is visibly jaundiced down to the soles, has poor tone (hypotonia), and a weak cry. There is a concern of neonatal sepsis precipitating the hyperbilirubinemia. The baby has also lost 11% of his birth weight.

How do you approach a baby presenting with jaundice? (Causes & Investigations)

The approach is to differentiate benign physiological jaundice from potentially dangerous pathological jaundice and identify the underlying cause.

Initial Steps: Take a thorough history (gestation, birth weight, feeding, family history) and perform a full examination.

Investigations for a jaundiced neonate:

  1. Total Serum Bilirubin (TSB) with Direct/Indirect split: This is the most important test to quantify the level of jaundice and determine the type. In NNJ, it is predominantly indirect (unconjugated) hyperbilirubinemia.
  2. Mother’s and Baby’s Blood Group and Rh type: To look for ABO or Rh incompatibility.
  3. Direct Coombs Test (DCT): To detect antibodies on the surface of the baby’s red blood cells, which would be positive in isoimmune hemolytic disease (e.g., Rh incompatibility).
  4. Full Blood Count (FBC) and Reticulocyte Count: To look for anemia (suggesting hemolysis) and a high reticulocyte count (indicating the bone marrow is trying to compensate for red cell destruction).
  5. Sepsis Screen (if indicated): If the baby is unwell (like in this case), an FBC, CRP, and blood culture are essential.
  6. G6PD screen: Especially in male infants in relevant ethnic groups.

Causes of Jaundice in this Child: This baby has multiple potential causes:

  • Neonatal Sepsis: Infection can impair liver function and increase hemolysis.
  • Poor feeding/Dehydration: Leads to increased enterohepatic circulation of bilirubin. The 11% weight loss is significant.
  • Polycythemia: Common in infants with Trisomy 21, leading to a higher red cell load to break down.
  • Congenital Hypothyroidism: Also more common in Trisomy 21 and a cause of prolonged jaundice.
What is prolonged jaundice and what are its causes?

Prolonged jaundice is defined as jaundice persisting beyond 14 days of life in a term infant or beyond 21 days in a preterm infant.

Causes of Prolonged Jaundice:

  1. Unconjugated (Indirect) Hyperbilirubinemia (Most common):
    • Breast Milk Jaundice: A common, benign condition in healthy, thriving, breastfed infants. Diagnosis of exclusion.
    • Congenital Hypothyroidism: Must be ruled out. The national screening program is crucial.
    • Urinary Tract Infection (UTI): An important and treatable cause.
    • Ongoing hemolysis (e.g., G6PD deficiency).
  2. Conjugated (Direct) Hyperbilirubinemia (Always pathological – a “cholestatic picture”):
    • Biliary Atresia: This is a surgical emergency. The bile ducts are obstructed, leading to liver damage. Presents with pale (acholic) stools and dark urine.
    • Neonatal hepatitis syndrome.
    • Metabolic disorders (e.g., galactosemia).
How do you manage this baby? (Phototherapy & Exchange Transfusion)

Management is aimed at reducing the bilirubin level to prevent kernicterus.

1. How to decide to give phototherapy?

  • The decision is based on plotting the baby’s Total Serum Bilirubin (TSB) level on a treatment threshold chart (e.g., NICE charts).
  • These charts plot TSB level against the baby’s age in hours.
  • The treatment threshold is adjusted for risk factors. This baby has several risk factors (sepsis, prematurity if applicable, acidosis), which means the threshold for starting phototherapy is lower.

How does phototherapy work? It is NOT “UV light.” It uses blue-green light (wavelength 450-460 nm). Light energy is absorbed by the unconjugated bilirubin molecule in the skin, converting it into water-soluble, non-toxic isomers (lumirubin) that can be excreted in the urine and bile without needing conjugation by the liver.

2. When do you consider an Exchange Transfusion?

  • This is an emergency procedure for dangerously high levels of bilirubin.
  • The TSB level is plotted on the same chart, which has a higher “exchange line.” If the TSB is above this line, an exchange transfusion is indicated.
  • It is also indicated in any infant with jaundice who shows signs of acute bilirubin encephalopathy (e.g., abnormal tone, retrocollis, opisthotonos, high-pitched cry), regardless of the TSB level.

What is an exchange transfusion? It is a procedure where small volumes of the infant’s blood are removed and replaced with cross-matched donor blood. This mechanically removes bilirubin and antibody-coated red cells and provides fresh albumin to bind more bilirubin.

What is Kernicterus? What are the heart assessment findings in Down’s syndrome?

Kernicterus (or Chronic Bilirubin Encephalopathy):

This is the permanent brain damage caused by the deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei. It occurs when bilirubin levels are so high that they cross the blood-brain barrier.

Clinical Features of Kernicterus:

  • Cerebral palsy (typically a choreoathetoid type).
  • Sensorineural hearing loss.
  • Gaze abnormalities (especially limitation of upward gaze).
  • Dental enamel dysplasia.

Heart Assessment in Down’s Syndrome:

  • About 50% of infants with Trisomy 21 have a congenital heart defect.
  • The most common defects are atrioventricular septal defects (AVSD), followed by VSD and ASD.
  • Clinical Assessment:
    • Listen for murmurs (e.g., a pansystolic murmur of a VSD).
    • Check for signs of heart failure (tachycardia, tachypnea, hepatomegaly).
    • Check femoral pulses to rule out coarctation of the aorta.
  • Standard of Care: All infants diagnosed with Down’s syndrome should have an echocardiogram to screen for congenital heart disease, even if no murmur is heard.
Why do early few days baby get weight loss?

It is normal for a newborn to lose some weight in the first few days of life.

  • Normal Percentage: A weight loss of up to 10% of birth weight is considered physiologically normal in a term infant.
  • Cause: This is primarily due to the excretion of excess extracellular fluid accumulated during fetal life. It is a loss of fluid, not tissue.
  • Timeline: Babies typically regain their birth weight by 10-14 days of age.
  • Excessive Weight Loss (>10%): As seen in this patient (11%), this is a red flag. It usually indicates inadequate fluid and caloric intake due to poor feeding, which can significantly worsen jaundice. It’s crucial to assess feeding adequacy by checking the mother’s breastfeeding technique, and monitoring the baby’s output (number of wet and dirty diapers).

Neonatology Long Case: Neonatal Sepsis / Meningitis

Patient Summary

This is a 1-month and 3-day-old baby boy who was born at term with no risk factors. He developed a fever on day 18 of life and was admitted. A lumbar puncture was positive, confirming neonatal meningitis. He is currently on day 10 of a planned 14-day course of intravenous antibiotics. His mother is supportive and notes the home environment is somewhat overcrowded. On examination today, the baby is afebrile and appears well. His neurological examination is normal, with normal tone and reflexes. The head circumference is tracking along the 50th percentile.

How do you classify neonatal sepsis and what are the common organisms?

Neonatal sepsis is classified based on the age of onset, which suggests different pathogens and modes of transmission.

  1. Early-Onset Sepsis (EOS):
    • Onset: First 72 hours of life.
    • Transmission: Acquired vertically from the mother during labor or delivery.
    • Common Organisms: Organisms colonizing the maternal genital tract:
      • Group B Streptococcus (GBS) – Most common
      • Escherichia coli (E. coli)
      • Listeria monocytogenes
  2. Late-Onset Sepsis (LOS):
    • Onset: After 72 hours of life (as in this patient, who presented at D18).
    • Transmission: Acquired horizontally from the environment (caregivers, hospital equipment).
    • Common Organisms:
      • Coagulase-negative staphylococci (especially with indwelling lines).
      • Staphylococcus aureus.
      • Gram-negative bacteria (E. coli, Klebsiella, Pseudomonas).
      • GBS can still be a cause.

This patient has Late-Onset Neonatal Meningitis.

What are the risk factors for sepsis and why is this case “uncomplicated”?

Risk Factors for Early-Onset Sepsis (Maternal/Intrapartum):

  • Maternal GBS colonization.
  • Preterm rupture of membranes (<37 weeks).
  • Prolonged rupture of membranes (>18 hours).
  • Maternal intrapartum fever.
  • Previous infant with GBS disease.

Risk Factors for Late-Onset Sepsis (Neonatal/Environmental):

  • Prematurity and low birth weight.
  • Use of indwelling catheters (IV lines, umbilical catheters).
  • Hospitalization and invasive procedures.
  • Overcrowded home environment.

Why is this case considered “uncomplicated” meningitis?

An episode of meningitis is considered uncomplicated if the child responds appropriately to antibiotics and does not develop acute complications. The term implies:

  • The child became afebrile and clinically improved on therapy.
  • There are no focal neurological deficits.
  • There are no signs of hydrocephalus (e.g., rapidly increasing head circumference, bulging fontanelle).
  • There is no evidence of subdural effusion or empyema.
You are planning an LP. How do you proceed? How do you monitor after discharge?

Procedure for Lumbar Puncture (LP):

  1. Consent: Obtain informed consent from the parents, explaining the reason, procedure, and risks.
  2. Positioning: Position the baby in the lateral decubitus position with knees and neck flexed, or in the sitting position, held securely by an assistant.
  3. Aseptic Technique: Use strict sterile technique (gloves, gown, sterile drapes). Clean the back with antiseptic solution.
  4. Analgesia: Infiltrate local anesthetic (e.g., lidocaine) or use topical anesthetic cream (e.g., EMLA) beforehand. Giving oral sucrose is also helpful for pain relief.
  5. Procedure: Insert a spinal needle with a stylet into the L3-L4 or L4-L5 interspace. Advance until CSF is obtained. Collect CSF sequentially into sterile bottles for analysis (microbiology, biochemistry, cell count).

Monitoring after Discharge:

Long-term follow-up is essential for any child who has had neonatal meningitis, as they are at high risk for sequelae.

  • Head Circumference (OFC): Monitor OFC at every visit to screen for developing hydrocephalus.
  • Neurological Examination: A full developmental and neurological exam at each follow-up to check for motor deficits (like cerebral palsy), abnormal tone, or seizures.
  • Hearing Assessment: This is critical. All infants post-meningitis should have a formal audiology assessment (e.g., Auditory Brainstem Response – ABR) before discharge or soon after. Sensorineural hearing loss is a common and serious complication.
  • Vision Assessment: Formal vision testing to check for cortical visual impairment or other deficits.
  • Developmental Surveillance: Ongoing monitoring of developmental milestones.
A 5yr old boy has raised ICP. Why are you more concerned about this than in an infant?

You are more concerned about a 5-year-old with raised Intracranial Pressure (ICP) compared to an infant because of the difference in cranial compliance.

  • In an Infant: The skull bones are not fused, and the fontanelles and sutures are open. This allows the skull to expand in response to increasing intracranial volume (e.g., from hydrocephalus or cerebral edema). This “decompensation” mechanism can mask the signs of raised ICP initially. The classic signs in an infant are a bulging fontanelle and a rapidly increasing head circumference.
  • In a 5-Year-Old Child: The cranial sutures are fused, and the fontanelles are closed. The skull is a rigid, fixed box. Therefore, any increase in the volume of the intracranial contents (brain, blood, or CSF) leads to a rapid and dangerous rise in intracranial pressure. This can quickly lead to brainstem herniation and death. The clinical signs are more classic: headache, vomiting, papilledema, and Cushing’s triad.

In vision and hearing, you are concerned about damage to the optic nerve (CN II) and auditory nerve (CN VIII) respectively, either from direct inflammatory damage or from pressure effects.

What are the long-term complications the child can develop?

Despite treatment, neonatal meningitis can lead to significant long-term neurological sequelae.

  • Hearing Loss: Sensorineural hearing loss is the most common serious complication.
  • Cognitive Impairment: Ranging from mild learning disabilities to severe intellectual disability.
  • Cerebral Palsy: Especially spastic motor deficits.
  • Epilepsy: Seizures may develop later in life.
  • Visual Impairment: Including cortical visual impairment or optic atrophy.
  • Hydrocephalus: Blockage of CSF pathways can lead to a requirement for a ventriculoperitoneal (VP) shunt.
  • Behavioral and Learning Problems.

It is vital that the mother knows about these potential follow-up issues so she can engage with the long-term monitoring program.

Other Long Cases: Acute Fever

Patient Summary

A 4-year-old boy presents with a 3-day history of high-grade fever. Today, he had a febrile seizure which was complex in nature. His mother is concerned about the cause of the fever. On examination, the child is febrile but not toxic-looking. His throat is markedly red with enlarged, erythematous tonsils that have some exudate. There are a few small petechiae on his soft palate (a palatal rash). His ears are normal. The rest of the systemic examination is unremarkable.

What is the cause for his acute fever?

Based on the examination findings, the most likely cause of his acute fever is Acute Tonsillitis / Pharyngitis.

The diagnostic approach to a child with acute fever is to perform a thorough history and a “top-to-toe” examination to localize the source of infection. A systematic approach includes looking for signs of:

  • Upper Respiratory Tract Infection: Pharyngitis, tonsillitis, otitis media, sinusitis.
  • Lower Respiratory Tract Infection: Pneumonia, bronchitis.
  • Urinary Tract Infection (UTI).
  • Gastrointestinal Infection (Gastroenteritis).
  • Specific Viral Exanthems: (e.g., Measles, Chickenpox).
  • Serious Bacterial Infections: Meningitis, bacteremia, osteomyelitis.

In this case, the positive findings are all localized to the throat.

How do you examine the throat and what are the findings?

How to position a child for throat examination:

  • The “knee-to-knee” position is often best. The parent sits on the examination couch with the child on their lap, facing them. The child’s legs are wrapped around the parent’s waist, and the parent gently holds the child’s hands and forehead. This provides security and immobilizes the head.

Equipment needed: A good light source (pen torch or otoscope light) and a tongue depressor.

Examination findings in Tonsillitis (how to see in naked eye):

  • Tonsils enlarging with viral infection: The tonsils appear red (erythematous) and swollen.
  • Bacterial vs. Viral look:
    • Viral Tonsillitis: Typically shows redness and swelling. There may be associated vesicles or ulcers (e.g., in Coxsackie virus/Hand-Foot-Mouth disease).
    • Bacterial Tonsillitis (Strep Throat): More likely to have a fiery red appearance with a white/yellowish exudate on the tonsils.
  • What palatal rash can present? The presence of small, red petechiae on the soft palate (often called “doughnut lesions”) is highly suggestive of infection with Group A Streptococcus (GAS).
How do you examine the ear and what are you looking for?

How to position for ear examination: Similar to the throat exam, the parent can hold the child securely on their lap.

Procedure: Use an otoscope with the largest speculum that fits comfortably in the ear canal. For children, you need to pull the pinna (auricle) down and back to straighten the ear canal (in adults, it’s up and back).

What to look for: You are looking for signs of Acute Otitis Media (AOM), another common cause of fever in children.

  • Normal Tympanic Membrane (TM): Pearly-grey, translucent, with a visible cone of light.
  • Signs of AOM:
    • Color: The TM will be red or yellow/amber.
    • Position: The TM will be bulging outwards due to pressure from fluid in the middle ear.
    • Mobility: Using a pneumatic otoscope, the TM will show reduced or absent mobility.
    • The normal landmarks, like the cone of light, will be distorted or absent.
How do you differentiate each type of rash by character?

Differentiating viral rashes (exanthems) is a key clinical skill.

Rash Type Description Associated Disease Distribution
Maculopapular Red, flat spots (macules) and raised bumps (papules). Often blanching. Measles: Confluent (blotchy, merging) rash.
Rubella: Fainter, discrete macules.
Roseola Infantum: Appears as fever subsides.		 Starts on the face/behind ears and spreads down the body (caudocephalic spread).
Vesicular Small, raised, fluid-filled blisters. Chickenpox (Varicella): Vesicles on a red base (“dewdrop on a rose petal”). Appear in crops, so lesions are seen in all stages of healing (papules, vesicles, crusts) at the same time. Starts on the trunk and spreads outwards (centrifugal). Very itchy.
Petechial/Purpuric Small, pinpoint (petechiae) or larger (purpura) non-blanching spots caused by bleeding under the skin. Meningococcemia: A medical emergency.
Can also be seen with Enteroviruses or Dengue.		 Can appear anywhere.
Erythematous Widespread, red rash that feels like sandpaper. Scarlet Fever (Group A Strep): Sandpaper rash, strawberry tongue, flushed cheeks with perioral pallor. Starts in neck/groin/axillae and spreads.
What are the common viral organisms spread in Sri Lanka these days?

The common circulating viruses can vary seasonally, but typical organisms causing fever and rash in children in Sri Lanka include:

  • Dengue Virus: Endemic in Sri Lanka. A major cause of acute febrile illness, which can present with a rash and must always be considered.
  • Influenza A and B: Common causes of seasonal flu with high fever, cough, and body aches.
  • Enteroviruses: Such as Coxsackie A16, which causes Hand, Foot, and Mouth Disease (vesicular rash on hands/feet, ulcers in mouth).
  • Respiratory Syncytial Virus (RSV): A very common cause of respiratory illness (bronchiolitis/pneumonia) in infants and young children.
  • While vaccine-preventable diseases are less common due to the robust EPI program, sporadic cases of Measles or Chickenpox can still occur.

Isira Aarewatte

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