🧠 MOCK OSCE · FCPS, MCPS, MD PAEDIATRICS ⏱ 10 min · MACROCEPHALY

Macrocephaly · Short Case

Candidate task: perform focused examination on a child with macrocephaly.
Then discuss differential diagnosis, investigations, management & follow‑up.
Pre‑exam Protocol
⏤ · Wash, Warm, Introduce, Position, Expose, Approach ▾

Standard pre‑examination protocol – must be demonstrated:

🖐 Wash hands with sterilizing solution.
🔥 Warm hands and stethoscope.
👋 Introduce yourself to child & parent.
🧍 Position child: seated, then standing for gait.
👕 Exposure — allow full examination.
➡️ Approach from the right side.
✔ CPSP marker: Pre‑exam Protocol is observed and scored.
1. Clinical Examination (≈6 min)
02 General Look (Inspection from end of bed) ▾

Key observations:

  • Head size: measure occipitofrontal circumference (OFC) – plot on growth chart.
  • Head shape: symmetry, frontal bossing, occipital prominence, sutures.
  • Fontanelles: size, tension, bulging.
  • Scalp veins: prominence (hydrocephalus).
  • Eye signs: setting‑sun sign (hydrocephalus), squint, nystagmus.
  • Dysmorphism: facial features (syndromic causes).
  • Skin: neurocutaneous stigmata (NF, tuberous sclerosis).
  • Gait: ataxia (if posterior fossa involvement).
👁 Red flags: rapidly increasing head circumference, bulging fontanelle, setting‑sun sign, vomiting, lethargy → hydrocephalus / raised ICP.
03 Focused Examination ▾

Systematic head & neurological exam:

  • Head circumference: measure and plot on appropriate growth chart.
  • Parental head circumferences: familial macrocephaly.
  • Fontanelles: anterior (size, tension), posterior (closed by 6‑8 weeks).
  • Sutures: separated (hydrocephalus), ridging (craniosynostosis – rarely macrocephaly).
  • Transillumination: if hydrocephalus / hydranencephaly suspected.
  • Auscultation: cranial bruits (AVM, vein of Galen).
  • Fundoscopy: papilledema (raised ICP), optic atrophy.
  • Eye movements: setting‑sun sign (hydrocephalus), squint, nystagmus.
  • Motor: tone, power, reflexes (upper motor neuron signs – hydrocephalus).
  • Gait: ataxia (posterior fossa / Dandy‑Walker).
🔍 Key: macrocephaly can be familial (benign), due to megalencephaly, hydrocephalus, or syndromic causes.
04 General Physical Exam (Hands → Face → Chest → Abdomen → Limbs) ▾

Systematic examination:

  • Hands: large hands (Sotos), syndactyly (Apert).
  • Face: dysmorphism, frontal bossing, hypertelorism.
  • Eyes: Kayser‑Fleischer rings (Wilson – if older), cataracts.
  • Chest: cardiac murmur (if syndromic).
  • Abdomen: hepatosplenomegaly (storage disorders).
  • Skin: neurocutaneous stigmata (NF, tuberous sclerosis, Sturge‑Weber).
  • Back: scoliosis, midline defects.
📏 Anthropometry: weight, height, OFC – plot on growth charts. Parental OFC for comparison.
05 Developmental Assessment & Associated Signs ▾

Assess:

  • Motor milestones: delayed (hydrocephalus, syndromic).
  • Cognitive: intellectual disability (if structural / syndromic).
  • Speech: delayed or dysarthric.
  • Behaviour: autism (Sotos, NF).
  • Associated: seizures (if cortical dysplasia, tuberous sclerosis).
🧠 Red flags: regression → neurodegenerative (Canavan, Alexander).

📋 Case Presentation – (fill in during exam)

This is a _____-year-old _____ child, referred for _____ (large head / developmental delay / seizures). On examination, the child appears _____ (well/unwell), with _____ (head size / shape / dysmorphism). Head circumference: _____ cm (_____ percentile). Parental OFC: _____ cm. Fontanelle: _____ (open/closed, tense/bulging). Sutures: _____ (separated/closed). Eye findings: setting‑sun sign _____ (present/absent), fundi _____ (normal / papilledema / optic atrophy). Neurological exam: tone _____, reflexes _____, plantars _____. Growth: weight _____ percentile, height _____ percentile. Associated signs: _____ (neurocutaneous stigmata, hepatosplenomegaly, dysmorphism).

2. Viva Discussion (≈4 min)
06 Viva · Differential, Investigations, Management, Follow‑up ▾
🔹 Differential Diagnosis

• Familial macrocephaly – benign, normal development
• Hydrocephalus – obstructive / communicating
• Megalencephaly – Sotos, NF, tuberous sclerosis
• Neurocutaneous syndromes – NF1, tuberous sclerosis
• Metabolic – Canavan, Alexander, Tay‑Sachs
• Skeletal dysplasias – achondroplasia
• Subdural collections – haematoma, effusion
• Brain tumours – rare
• Vein of Galen malformation – bruit, heart failure
• Benign extra‑axial fluid of infancy – resolves by 2 years

🔹 Investigations – Diagnosis

• Head ultrasound – if fontanelle open (hydrocephalus, subdural).
• Brain MRI / CT – structural abnormalities, hydrocephalus, tumours.
• Genetic testing – if syndromic (NF1, Sotos, etc.).

🔹 Investigations – Aetiology

• Metabolic screen – if neurodegenerative (lactate, amino acids, organic acids).
• Lysosomal enzymes – if storage disorder suspected.
• TORCH screen – if congenital infection.
• Karyotype / microarray – if dysmorphic.
• Parental OFC – familial macrocephaly.

🔹 Investigations – Exclude Others

• LP – if suspected infection / raised ICP (after imaging).
• EEG – if seizures.
• Ophthalmology – papilledema, funduscopy.
• Audiology – if syndromic.
• Skeletal survey – if skeletal dysplasia.

🔹 Investigations – Rule Out Complications

• ICP monitoring – if hydrocephalus.
• Shunt series – if VP shunt (malfunction).
• Ophthalmology – visual field, optic atrophy.
• Psychometric assessment – cognitive function.
• Feeding / swallow – if bulbar involvement.

🔹 Management – Across Organ Systems

Neurological

Hydrocephalus: VP shunt, ETV. Raised ICP: acetazolamide, surgical intervention.

Developmental

Early intervention, physiotherapy, OT, speech therapy, special education.

Metabolic

Specific therapies: enzyme replacement (if available), dietary modification.

Genetic

Genetic counselling, prenatal diagnosis, family support.

Seizures

Antiepileptics – tailored to seizure type.

Supportive

Nutritional support, feeding therapy (if dysphagia), respiratory support (if severe).

Social

Respite care, financial support, family counselling.

Multidisciplinary

Neurology, neurosurgery, genetics, developmental paediatrics, rehabilitation.

📈 Prognosis

  • Familial macrocephaly: excellent; normal development.
  • Hydrocephalus: good with early treatment; depends on cause.
  • Megalencephaly (Sotos): variable; mild‑moderate learning difficulties.
  • Neurocutaneous: depends on severity (NF, TSC).
  • Metabolic (Canavan, Alexander): poor; progressive.
  • Benign extra‑axial fluid: excellent; resolves by 2 years.

📋 Follow‑up Schedule

  • Familial: reassurance; monitor development.
  • Hydrocephalus: regular neurosurgery, neurology; monitor shunt.
  • Megalencephaly: annual neurology, developmental paediatrics.
  • Neurocutaneous: regular NF/TSC clinic, ophthalmology, renal ultrasound.
  • Metabolic: metabolic specialist, neurology, supportive care.
  • Benign extra‑axial: monitor OFC; usually resolves.
💡 Examiner expectation: ability to differentiate benign familial from pathological causes, identify hydrocephalus (bulging fontanelle, setting‑sun sign, rapid growth), and discuss appropriate investigations and management. Know the red flags: rapid head growth, vomiting, lethargy, papilledema.
📚 Visit paeds.online for more CPSP resources
Mock OSCE · Macrocephaly · Based on Wyne‑Harris, Nelson & Pediatric Clinical Advisor