A 5 month old boy with multiple hypopigmented skin rashes

Dr Ira Shah

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A 5 month old boy with multiple hypopigmented skin rashes

Dr Ira Shah.

Medical Sciences Department, Pediatric Oncall, Mumbai, India.

ADDRESS FOR CORRESPONDENCE
Dr Ira Shah, Medical Sciences Department, Pediatric Oncall, 1, B Saguna, 271, B St. Francis Road, Vile Parle {W}, Mumbai 400056.

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Clinical Problem
A 5 month old boy born of non-consanguineous marriage presented with cold since 15 days and 6-7 episodes of tonic convulsions in 3 days. There was no loss of consciousness, fever, vomiting or refusal of feeds. Birth history and milestones were normal. Father had papular rash over bridge of nose extending laterally and paternal grandfather also had similar lesions. There was no family history of seizures. On examination, he was afebrile, had no signs of rickets or meningeal signs. Blood pressure was normal. He had a hypopigmented macular rash over left thigh measuring 5 cm x 5 cm and over left jaw measuring 2 x 3 cm. He had multiple small macules over chest and abdomen and right hand. All these skin lesions were present since birth. Systemic examination was normal. Investigations showed normal hemogram, serum calcium, electrolytes and blood sugar.

What is the diagnosis? How to investigate this child further?

Discussion
Dr. Ira Shah:

This child had presented with unprovoked seizures. Since he has no fever and is otherwise normal in between the seizures with no meningeal signs, infection seems unlikely to be the cause. Also other causes of seizures such as hypertension, hypocalcemia, hypoglycemia and dyselectrolytemia have been ruled out. The age of onset and absence of fever also makes febrile convulsions unlikely. Thus, one would suspect epilepsy, neurocutaneous disorder or brain malformation in this child. This child had multiple café are lait spots and hypopigmented macules with both father and paternal grandfather having adenoma sebaceum and hence one would suspect Tuberous sclerosis in this child.
Tuberous sclerosis is an autosomal dominant neurocutaneous disorder characterized by skin, CNS, renal, cardiac and eye problems and has variable penetrance. Skin manifestations include ash leaf macules, café are lait spots and later on formation of adenoma sebaceum. Tubers may form in the brain parenchyma leading to seizures, in the eye leading to blindness. Patients are prone to rhabdomyomas in the heart and renal failure. This child should undergo UV light assessment of skin lesions which in him confirmed the presence of ash leaf macules and subsequent MRI brain, ultrasound of kidneys, echocardiography and EEG.

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Funding: None

Conflict of Interest: None

Cite this article as:
Shah I. A 5 month old boy with multiple hypopigmented skin rashes. Pediatr Oncall J. 2006;3: 73.