Menkes disease, a diagnosis to consider in case of severe epilepsy  with hyperlactacidemia: a case report.

We report the case of a 3 month-old infant hospitalized due to partial tonic-clonic seizures. Laboratory findings showed increased of lactates in blood and in cerebrospinal fluid. First screenings for infectious, metabolic and genetic causes were negative. After recurrence of multifocal seizures further investigations are made according to the presence of thick and tortuous hair. Low levels of ceruloplasmin and copper in plasma are in agreement with the suspected diagnosis of Menkes disease. Molecular analysis of the ATP7A gene confirmed the diagnosis with a non-sens mutation. PMID: 32633724 [PubMed - as supplied by publisher]
Source: Annales de Biologie Clinique - Category: Biochemistry Authors: Tags: Ann Biol Clin (Paris) Source Type: research