P.125 A severe case of Menkes: an infant's presentation with intraventricular hemorrhage. (17th June 2016)

• Record Type: Journal Article
• Authors: Szelemej, PA; Stevic, I; Del Bigio, M; Mhanni, A; Hartley, J; Greenberg, C; Frosk, P; Seargeant, L
• Is Part Of: Canadian journal of neurological sciences. Volume 43(2016)Supplement 2
• Page Start: S49
• Page End: S49
• Publication Date: 2016-06-17
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Electronic journals; 616.8
• DOI: 10.1017/cjn.2016.224
• Languages: English
• ISSNs: 0317-1671

Abstract

Abstract : Background: Menkes disease is a rare, X-linked recessive disorder of the ATP7A gene, a copper transporter; resulting in systemic copper deficiency. The deficient function of copper-dependent enzymes manifests clinically with failure to thrive, seizures, hypotonia, coarse hair, connective tissue abnormalities, and neurodegeneration. Cerebral arteries are often elongated, tortuous, and fragile.Methods: This case report was prepared using the patient's hospital chart, and a review of the literature undertaken using PubMed. Our case was subsequently compared and contrasted to known Menkes' literature.Results: We present the case of a 2 month old male with Menkes disease who presented with new seizure onset in the setting of a Grade III intraventricular hemorrhage with hydrocephalus. He deteriorated into status epilepticus, and palliative care was instituted. On autopsy, pronounced tortuosity of his cerebral vasculature was noted, as well as a bilaterally cystic brain with an organizing hemorrhage on the ventral surface of the brainstem.Conclusions: Although Menkes disease often presents with seizures, neurologic deterioration, and abnormal cerebral vasculature; the quick demise subsequent to an intraventricular hemorrhage is somewhat unusual and discussed.