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.
Highlights
Tuberous sclerosis (TSC) has an incidence of 1 in 6000 to 1 in 10000 live births with no ethnic clustering [1]
Genetic studies detected two loci e.g. TSC1, the abnormality is located on chromosome 9q34 and TSC2, the abnormality is located on chromosome 16p13
TSC is an extremely heterogeneous disease with a wide clinical spectrum varying from severe mental retardation and incapacitating seizures to normal intelligence and a lack of seizures often within the same family
Summary
Tuberous sclerosis (TSC) has an incidence of 1 in 6000 to 1 in 10000 live births with no ethnic clustering [1]. TSC is an extremely heterogeneous disease with a wide clinical spectrum varying from severe mental retardation and incapacitating seizures to normal intelligence and a lack of seizures often within the same family. The child was developmentally lacking behind other children of the same age and sex of the community He was not able to speak and communicate till very much sleepy and did abnormal behavior frequently. The child had disturbances of higher function like orientation in time and place, speech and language as well as intelligence. His cranial nerves and motor functions were normal.
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