| Menkes syndrome presenting as myoclonic seizures: neuroimaging and EEG observations. | |
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MedLine Citation:
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PMID: 17621528 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The authors report an 11-month-old boy with Menkes kinky hair disease who presented with global delay in acquiring milestones and repeated myoclonic jerks. He had scanty, hypopigmented scalp hairs with steely wool-like texture and intervening zones of alopecia. There was low serum ceruloplasmin (5 mg/dL) and copper (24.2 microg/dL). Neuroimaging of the brain revealed marked cerebral atrophy and significant delayed myelination. Magnetic resonance angiography showed tortuous cerebral and neck blood vessels. There was poor therapeutic response to symptomatic treatment. |
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Authors:
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P S Bindu; S Sinha; A B Taly; J M E Kovur; N Gayathri; G R Arunodaya |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of child neurology Volume: 22 ISSN: 0883-0738 ISO Abbreviation: J. Child Neurol. Publication Date: 2007 Apr |
Date Detail:
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Created Date: 2007-07-10 Completed Date: 2007-08-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: Canada |
Other Details:
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Languages: eng Pagination: 452-5 Citation Subset: IM |
Affiliation:
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Department of Neurology, NIMHANS, Karnataka, India. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Electroencephalography
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methods Epilepsies, Myoclonic / etiology*, pathology* Humans Infant Magnetic Resonance Imaging / methods Male Menkes Kinky Hair Syndrome / complications* |
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