Menkes Disease

doi:10.1007/3-540-27660-2_53

Magnetic Resonance of Myelination and Myelin Disorders 2005

DOI: 10.1007/3-540-27660-2_53

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Menkes Disease

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2012

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Macrocephaly with Diffuse White Matter Changes Simulating a Leukodystrophy in Menkes Disease

Jain

Sharma

Sankhyan³

et al. 2012

Indian J Pediatr

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Menkes disease is a rare inherited disorder of copper metabolism caused by mutations in the ATP7A gene. Its clinical course is characterized by early neurological regression, seizures, hypotonia and kinky friable hair. Neuroimaging typically reveals severe brain atrophy with subdural fluid collections and excessive tortuosity of cerebral arteries. The authors describe a case of Menkes disease with unusual imaging findings. The patient had macrocephaly and symmetrical bilateral confluent white matter changes with temporal cystic areas, reminiscent of megalencephalic leukodystrophy.

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Macrocephaly with Diffuse White Matter Changes Simulating a Leukodystrophy in Menkes Disease

Jain

Sharma

Sankhyan³

et al. 2012

Indian J Pediatr

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Menkes Disease

Cited by 1 publication

References 60 publications

Macrocephaly with Diffuse White Matter Changes Simulating a Leukodystrophy in Menkes Disease

Macrocephaly with Diffuse White Matter Changes Simulating a Leukodystrophy in Menkes Disease

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