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P.125 A severe case of Menkes: an infant’s presentation with intraventricular hemorrhage

Published online by Cambridge University Press:  17 June 2016

PA Szelemej
Affiliation:
(Winnipeg)
I Stevic
Affiliation:
(Winnipeg)
M Del Bigio
Affiliation:
(Winnipeg)
A Mhanni
Affiliation:
(Winnipeg)
J Hartley
Affiliation:
(Winnipeg)
C Greenberg
Affiliation:
(Winnipeg)
P Frosk
Affiliation:
(Winnipeg)
L Seargeant
Affiliation:
(Winnipeg)
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Abstract

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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.

Type
Poster Presentations
Copyright
Copyright © The Canadian Journal of Neurological Sciences Inc. 2016