Autism and mental retardation with convulsion in tuberous sclerosis: a case report

结节性硬化症合并自闭症、智力低下及惊厥:病例报告

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Abstract

A 6-year-old male child born of a non-consanguineous marriage admitted in the pediatrics emergency ward with the history of recurrent attacks of convulsion since 4 month of age. He was also suffering from frequent vomiting. Examination revealed that the child had characteristics features of angiofibromas on the face with butterfly distribution, hyperpigmented patches on forehead, hypopigmented macules on trunk, prominent subependymal and cortical tubers. The child was diagnosed as tuberous sclerosis. Association of autistic behaviors and severe degree of mental retardation are noteworthy in this child indicating the need of counseling as early as possible along with behavioral and educational strategies for mental retardation from early age with other symptomatic management.

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