Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease

A 4-month-old, previously healthy boy presented with acute onset of prolonged, recurrent seizure activity followed by neurodevelopmental deterioration and concurrent hair shaft hypopigmentation with fragility. Initial evaluation revealed significant low serum copper and ceruloplasmin, electrical status epilepticus on electroencephalography, and generalized subcortical white matter changes with diffuse tortuosity of intracranial vessels on MRI brain. In addition, a genetic study with whole-genome sequencing demonstrated a hemizygous pathogenic variant at c.2179G>A p (Gly727Arg) on ATP7A, thereby confirming the diagnosis of Menkes disease. Symptomatic treatment with antiepileptic medications was provided along with an urgent referral to an advanced center for multidisciplinary care and copper histidine replacement therapy.

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• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease ; volume:5 ; number:1 ; year:2022 ; pages:70-73 ; extent:4 ; Dubai medical journal ; 5, Heft 1 (2022), 70-73 (gesamt 4)

Beteiligte, Orts- und Zeitangaben

• Urheber: Pawar, Nikhil Vikas ; Mir, Fatima Farid

Weitere Informationen

• DOI: 10.1159/000521155
• URN: urn:nbn:de:101:1-2022032323323892276470
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.