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

Tuberous Sclerosis · Short Case

Candidate task: perform focused examination on a child with suspected tuberous sclerosis.
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: supine, then sitting.
👕 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:

  • Skin: hypopigmented macules (ash‑leaf spots), facial angiofibromas (adenoma sebaceum), shagreen patch, ungual fibromas.
  • Head: macrocephaly (common).
  • Eye signs: retinal hamartomas (mulberry lesions).
  • Seizures: infantile spasms (West syndrome), focal seizures.
  • Developmental: intellectual disability, autism, ADHD.
  • Cardiac: rhabdomyomas (may cause murmurs, heart failure).
  • Renal: angiomyolipomas (may cause haematuria, renal failure).
  • Dysmorphism: facial features (if syndromic).
👁 Red flags: infantile spasms, developmental regression, new neurological symptoms.
03 Focused Examination ▾

Systematic examination for diagnostic features:

  • Skin – Wood's lamp: examine for hypopigmented macules (≥3, ≥5mm).
  • Facial angiofibromas: red/pink papules on cheeks, nasolabial folds (≥3).
  • Forehead fibrous plaque: firm, raised lesion.
  • Shagreen patch: leathery, pebbly lesion (lumbosacral area).
  • Ungual fibromas: periungual/ subungual fibromas (≥2).
  • Ophthalmoscopy: retinal hamartomas (mulberry lesions, achromic patches).
  • Head circumference: macrocephaly common.
  • Neurological: seizures (infantile spasms, focal), tone, power, reflexes.
  • Cardiac: rhabdomyomas (echo if murmur/arrhythmia).
  • Abdominal: renal angiomyolipomas (palpable masses, haematuria).
🔍 Key: TSC diagnostic criteria: 2 major or 1 major + 2 minor features.
04 General Physical Exam (Hands → Face → Chest → Abdomen → Limbs) ▾

Systematic examination:

  • Hands: ungual fibromas (periungual), pits in nails.
  • Face: angiofibromas (adenoma sebaceum), forehead fibrous plaque.
  • Eyes: retinal hamartomas, achromic patches.
  • Chest: rhabdomyomas (cardiac murmur, heart failure).
  • Abdomen: renal angiomyolipomas (palpable), hepatic angiomyolipomas.
  • Skin: ash‑leaf spots (Wood's lamp), shagreen patch, confetti lesions.
  • Oral: dental pits, gingival fibromas.
  • Back: shagreen patch.
📏 Anthropometry: weight, height, OFC – plot on growth charts.
05 Developmental Assessment & Associated Signs ▾

Assess:

  • Motor milestones: delayed (global developmental delay).
  • Cognitive: intellectual disability (common ~50%).
  • Speech: delayed, autistic features.
  • Behaviour: autism spectrum disorder (25‑50%), ADHD.
  • Seizures: infantile spasms (West syndrome), focal seizures.
  • Sleep: sleep disturbances common.
🧠 Red flags: infantile spasms (urgent treatment needed), developmental regression.

📋 Case Presentation – (fill in during exam)

This is a _____-year-old _____ child, referred for _____ (seizures / developmental delay / skin lesions). On examination, the child appears _____ (well/unwell), with _____ (facial angiofibromas / macrocephaly). Skin: ash‑leaf spots _____ (present/absent), facial angiofibromas _____ (present/absent), shagreen patch _____ (present/absent). Head circumference: _____ cm (_____ percentile). Eye findings: retinal hamartomas _____ (present/absent), fundi _____ (normal / hamartomas). Neurological exam: tone _____, reflexes _____, plantars _____. Growth: weight _____ percentile, height _____ percentile. Associated signs: _____ (cardiac rhabdomyomas, renal angiomyolipomas).

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

• Neurofibromatosis type 1 – café‑au‑lait spots, neurofibromas.
• Sturge‑Weber syndrome – port‑wine stain, leptomeningeal angioma.
• Hypomelanosis of Ito – hypopigmented whorls, neurological involvement.
• Linear nevus sebaceous syndrome – linear nevi, seizures.
• Incontinentia pigmenti – pigmented skin lesions, CNS involvement.
• Focal cortical dysplasia – focal seizures, no skin lesions.
• Infantile spasms (other causes) – no skin or systemic features.
• Isolated angiofibromas – no other features.
• Isolated renal angiomyolipomas – may be sporadic.
• Familial macrocephaly – no skin or systemic features.

🔹 Investigations – Diagnosis

• Brain MRI – cortical tubers, subependymal nodules, SEGAs, white matter abnormalities.
• Wood's lamp examination – hypopigmented macules.
• Genetic testing – TSC1 (hamartin) or TSC2 (tuberin) mutations.
• Ophthalmoscopy – retinal hamartomas.

🔹 Investigations – Aetiology

• Genetic testing – TSC1/TSC2 – confirms diagnosis.
• Parental examination – to identify familial cases.
• Prenatal testing – if family history.
• Detailed family history – for autosomal dominant inheritance.

🔹 Investigations – Exclude Others

• EEG – hypsarrhythmia (infantile spasms), focal discharges.
• Echocardiography – cardiac rhabdomyomas.
• Renal ultrasound – angiomyolipomas, cysts.
• Chest CT – lymphangioleiomyomatosis (if >18 yrs, female).
• Ophthalmology – retinal hamartomas.

🔹 Investigations – Rule Out Complications

• MRI brain – monitor for SEGA growth (1‑3 yearly).
• Renal ultrasound – monitor angiomyolipoma growth.
• Echocardiography – monitor rhabdomyomas (may regress).
• EEG – if seizures / infantile spasms.
• Ophthalmology – regular retinal exams.
• Developmental assessment – monitor for intellectual disability, autism.

🔹 Management – Across Organ Systems

Neurological

Seizures: vigabatrin (infantile spasms), AEDs (focal seizures). mTOR inhibitors (everolimus) for refractory seizures.

Neurosurgical

SEGA: monitoring, surgical resection, everolimus (reduces size).

Renal

Angiomyolipomas: monitoring, mTOR inhibitors (everolimus), embolization, surgery (if large/bleeding).

Cardiac

Rhabdomyomas: monitor; may regress. Treat heart failure/arrhythmias if symptomatic.

Developmental

Early intervention, physiotherapy, OT, speech therapy, behavioural therapy (autism).

Dermatological

Angiofibromas: topical rapamycin/sirolimus, laser therapy.

Pulmonary

LAM (lymphangioleiomyomatosis): sirolimus, pulmonary function monitoring (if >18 yrs, female).

Genetic Counselling

Recurrence risk (50% if parent affected, new mutation ~70%). Prenatal diagnosis.

📈 Prognosis

  • Variable: wide spectrum – from normal development to severe disability.
  • Seizures: earlier onset → worse neurodevelopmental outcome.
  • Intellectual disability: ~50% (varies).
  • Autism: 25‑50% (higher with TSC2 mutations).
  • SEGA: can cause hydrocephalus if obstructs CSF flow.
  • Renal: angiomyolipomas can cause haemorrhage, renal failure.
  • LAM: pulmonary complication in females (adolescence/adult).
  • Life expectancy: reduced in severe cases; improved with mTOR inhibitors.

📋 Follow‑up Schedule

  • Multidisciplinary: neurology, nephrology, cardiology, dermatology, genetics, developmental paediatrics.
  • Brain MRI: 1‑3 yearly (SEGA surveillance).
  • Renal ultrasound: 1‑3 yearly.
  • Echocardiography: until rhabdomyomas regress.
  • Chest CT: if LAM suspected (females >18 yrs).
  • EEG: if seizures / infantile spasms.
  • Ophthalmology: regular retinal exams.
  • Developmental: regular assessment, early intervention.
  • Transition: plan for adult care (renal, pulmonary, neurology).
💡 Examiner expectation: ability to recognise diagnostic criteria (major and minor features), identify complications (SEGA, angiomyolipomas, LAM, cardiac rhabdomyomas), and discuss multidisciplinary management. Know the red flags: infantile spasms (urgent vigabatrin), SEGA (vision loss, hydrocephalus), renal haemorrhage.
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Mock OSCE · Tuberous Sclerosis · Based on Wyne‑Harris, Nelson & Pediatric Clinical Advisor