A child presents to the clinic with history of seizures and mental retardation. Clinical examination reveals multiple hypopigmented macules. What is the likely diagnosis:
Correct Answer: Tuberous Sclerosis
Description: Answer is A (Tuberous Sclerosis): The presence of hvopigmented macules in the background of seizures and mental retardation suggests the diagnosis of Tuberous Sclerosis. Often hypopigmented macules are the initial clue to tuberous sclerosis, a neurocutaneous disorder inherited in an autosomal dominant manner. Any child with unexplained seizures should be examined carefully for cutaneous clues, paicularly hypopigmented macules. The hypopigmented lesions are small, ovoid and scattered and their number varies.' -- Oski's Pediatrics 4th/861 The off white hypomelonotic macules are seen more easily in tanned or dark skinned individuals. The macules often are oval or 'ash leaf' in shape and follow dermatomes. In infancy the presence of these macules accompanied by seizures is viually diagnostic of Tuberous Sclerosis' Tuberous Sclerosis Autosomal Dominant Neurocutaneous Disorder Cutaneous Features Neurological Features Other Features * Hypopigmented macules/Ash-leaf spotsdeg * Seizuresdeg * Renal Lesions - Seen in >90% of cases - Seizures are the most common Renal cysts or angiomyolipomas - Are small, ovoid, scattered and variable presenting symptom may occur (Hematuria in number - Infantile spasms may be the /obstruction) - Larger lesions are known as 'Ash-leaf' presenting feature during * Cardiac Lesions spots as these may have jagged edges infancy Rhabdomyomas of the hea may resembling a 'leaf * Mental Retardationdeg occur * Shagreen Spotsdeg - Mental Retardation occurs in * Pulmonary Lesions - Roughened, raised, leathery lesions with an orange peel consistency * Adenoma Sebaciume - Facial skin hamaoma that develops in upto 50% of patients referred to teiary care - Patients with seizures are more prone to mental retardation Lymphagiomyomatosis is the classical pulmonary lesion Rarely cystic lung disease may occur * Eye lesions The charachteristic brain lesion is a coical 'Tuber'. The most common neurological early childhood (-- 4-6 years of age) - Appears as tiny red nodules over nose Retinal Hamaomas may occur * Skeletal lesions and cheeks resembling acne * Facial Angiofibromas / Ungual Fibromas Facial angiofibromas may seen ungula fibromas are more common in toes * Cafe- au- lait spots include manifestations seizures, seizures cognitive impairment and behavioral abnormalities . including autism. Cystic rarefaction of the bones or the fingers or toes. These may be seen occasionally T. S. 'Classical Triad' described includes Seizures, Mental Retardation and Adenoma Sebacium (occurs in <33% patients) T.S should be suspected in any child presenting with unexplained seizures who shows hjpopigmented cutaneous macules.
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