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

机译:结节性硬化症中自闭症和智力低下伴惊厥一例

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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.
机译:一个因非血缘婚姻而出生的6岁男孩,已入小儿急诊病房,有4个月大以来反复发作惊厥的历史。他还经常呕吐。检查发现,该孩子的面部特征是蝶形分布的血管纤维瘤,额头上的色素沉着斑块,躯干上的色素沉着的黄斑,室管膜下突出和皮质块茎。这孩子被诊断为结节性硬化症。该孩子的自闭症行为和严重智力障碍的严重程度之间的关联是值得注意的,这表明需要尽早进行咨询,以及从小就接受其他对症治疗的行为和教育策略。

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