TITLE:
Siblings with Autism, Mental Retardation, and Convulsions in Tuberous Sclerosis: A Case Report
AUTHORS:
Farihan Farouk Helmy, Adnan Amin Alsulaimani, Amal Abdulrahman Hunjur, Shahad Sati Alheraiti
KEYWORDS:
Autism, Menatl Retardation, Tuberous Sclerosis, Children
JOURNAL NAME:
World Journal of Neuroscience,
Vol.6 No.3,
July
26,
2016
ABSTRACT: A 3-year-old female
patient born of consanguineous parents presented to the (development and
behavioral clinic) in Taif children hospital, Western Saudai Arabia, her mother
complained that her daughter had speech delay, no eye to eye contact, and was
performing stereotyped behaviors (hand flapping). The girl developed
convulsions at the age of 3 months and was on anticonvulsant medication since
that age; her convulsions were controlled on anti-epileptic treatment. Family
history revealed that the girl had a 6-year-old male sibling who developed
convulsions at the age of 4 months and is on antiepileptic medications; the boy
suffered also from speech delay, absent social interaction, and repetitive
behaviors. On examination the girl had characteristic features of
angio-fibromas, hypo-pigmented macules on the trunk and legs, and moreover the
boy had similar skin features plus hypo-pigmented tufts of hair. Both cases
were diagnosed as Autistic spectrum disorder, tuberous sclerosis, and mental
retardation. The family needed genetic counseling, while both cases needed as
soon as possible behavioral and educational strategies.