Question:easy
A child presents to the clinic with a history of seizures and mental retardation. Clinical examination reveals multiple hypopigmented macules. What is the likely diagnosis?
A child presents to the clinic with a history of seizures and mental retardation. Clinical examination reveals multiple hypopigmented macules. What is the likely diagnosis?
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Seizures plus mental retardation plus hypopigmented ash leaf macules equals tuberous sclerosis.
Updated On: Jun 24, 2026
- Tuberous sclerosis
- Neurofibromatosis
- Sturge Weber syndrome
- Linear epidermal nevus syndrome
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The Correct Option is A
Solution and Explanation
Three signals are on the table: seizures, learning disability, and pale patches of skin. Together they describe a neurocutaneous disorder, and the specific colour of the skin lesion is the deciding clue.
Pale, depigmented macules, the so called ash leaf spots that fluoresce under a Wood's lamp, are the earliest cutaneous marker of tuberous sclerosis. That condition classically links seizures, intellectual impairment, and skin findings, later adding facial angiofibromas, a shagreen patch, periungual fibromas, brain cortical tubers, and renal angiomyolipomas. The hypopigmentation is the key that unlocks the answer.
The competitors all break on the skin finding. Neurofibromatosis gives hyperpigmented cafe au lait spots and neurofibromas, the reverse of pale macules. Sturge Weber announces itself with a port wine facial stain along the trigeminal nerve and underlying meningeal angiomas, not white patches. Linear epidermal nevus syndrome produces raised linear warty streaks rather than flat hypopigmented macules.
With hypopigmented macules driving the diagnosis, the picture is tuberous sclerosis.
\[\boxed{\text{Tuberous sclerosis}}\]
Pale, depigmented macules, the so called ash leaf spots that fluoresce under a Wood's lamp, are the earliest cutaneous marker of tuberous sclerosis. That condition classically links seizures, intellectual impairment, and skin findings, later adding facial angiofibromas, a shagreen patch, periungual fibromas, brain cortical tubers, and renal angiomyolipomas. The hypopigmentation is the key that unlocks the answer.
The competitors all break on the skin finding. Neurofibromatosis gives hyperpigmented cafe au lait spots and neurofibromas, the reverse of pale macules. Sturge Weber announces itself with a port wine facial stain along the trigeminal nerve and underlying meningeal angiomas, not white patches. Linear epidermal nevus syndrome produces raised linear warty streaks rather than flat hypopigmented macules.
With hypopigmented macules driving the diagnosis, the picture is tuberous sclerosis.
\[\boxed{\text{Tuberous sclerosis}}\]
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