Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders

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• 作者：Heba S. Abd-Elkhalek ; Radwa Gamal ; Osama K. Zaki ; Solaf M. Elsayed ; ^{elsayed683@yahoo.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Consanguinity ; Inborn errors ; Neurometabolic ; Maple syrup ; Tay&ndash ; Sachs disease
• 刊名：Egyptian Journal of Medical Human Genetics
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：17
• 期：3
• 页码：247-250
• 全文大小：421 K

文摘

Neurometabolic disorders are a group of inborn errors of metabolism where neurological symptoms predominate especially convulsions which are usually resistant to antiepileptic drugs. Other symptoms include poor feeding, vomiting, lethargy, seizures, and loss of consciousness. Because of the nonspecific overlapping symptoms, confirming the diagnosis depends mainly on the specific investigation that is done in highly specialized laboratories.

The clinical picture can be more complicated in the presence of two diseases in the same family and more difficult if present in the same patient. This is not extremely rare in countries with high prevalence of consanguineous marriage like Egypt. The situation is more complicated when we add the lack of specific investigations, metabolic specialized labs and the deficiency of documentation.

In this case report, we present the challenges that we met in diagnosis and counseling of a family with both Tay–Sachs and maple syrup urine disease depending mainly on history, clinical data and a few diagnostic investigations.