Egyptian Journal of Medical Human Genetics

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

Heba S Abd-Elkhalek, Radwa Gamal, Osama K Zaki, Solaf M Elsayed


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.
AJOL African Journals Online