Abstract
A 3-year-old male child presented as delay in development of speech, a rare single presenting feature with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features like Ash-leaf spots and Adenoma sebaceum. The clinical manifestations and evaluation of tuberous sclerosis are discussed.
Highlights
Tuberous sclerosis was first described in eighteen hundred eighty by Bourneville
Studies have reported that 25% to 61% of affected individuals meet the diagnostic criteria for autism, with an even higher proportion showing features of a broader pervasive developmental disorder [2]
Selective involvement of delay in speech as a presenting complaint has not been reported in literature
Summary
Tuberous sclerosis was first described in eighteen hundred eighty by Bourneville (a French physician). A recent study reported self-injurious behaviour in 10% of people with tuberous sclerosis [3]. We report an interesting case of a 3 year old male child, who came to our out-patient department with sole complaint of delay in speech and on examination skin manifestations of tuberous sclerosis were detected accidently, leading to further work up and subsequent diagnosis of the same. Central nervous system examination was normal without any behavioural abnormality On investigation, his MRI Brain showed multiple bilateral cortical tubers, involving mainly the right parietal lobe; with numerous small tubers seen in rest of the areas. His echocardiogram and ultrasound abdomen was normal and there was no evidence of rhabdomyoma and angiomyolipoma in heart or kidneys respectively. Screening of other siblings revealed no evidence of Tuberous Sclerosis
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