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A 3-year-old femalepatient born of consanguineous parents presented to the development andbehavioral clinic in Taif children hospital, Western Saudai Arabia, her mothercomplained that her daughter had speech delay, no eye to eye contact, and wasperforming stereotyped behaviors hand flapping. The girl developedconvulsions at the age of 3 months and was on anticonvulsant medication sincethat age; her convulsions were controlled on anti-epileptic treatment. Familyhistory revealed that the girl had a 6-year-old male sibling who developedconvulsions at the age of 4 months and is on antiepileptic medications; the boysuffered also from speech delay, absent social interaction, and repetitivebehaviors. On examination the girl had characteristic features ofangio-fibromas, hypo-pigmented macules on the trunk and legs, and moreover theboy had similar skin features plus hypo-pigmented tufts of hair. Both caseswere diagnosed as Autistic spectrum disorder, tuberous sclerosis, and mentalretardation. The family needed genetic counseling, while both cases needed assoon as possible behavioral and educational strategies.

KEYWORDS

Autism, Menatl Retardation, Tuberous Sclerosis, Children

Cite this paper

Helmy, F. , Alsulaimani, A. , Hunjur, A. and Alheraiti, S. 2016 Siblings with Autism, Mental Retardation, and Convulsions in Tuberous Sclerosis: A Case Report. World Journal of Neuroscience, 6, 220-226. doi: 10.4236-wjns.2016.63027.





Autor: Farihan Farouk Helmy1*, Adnan Amin Alsulaimani1, Amal Abdulrahman Hunjur2, Shahad Sati Alheraiti2

Fuente: http://www.scirp.org/



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