Menkes syndrome presenting as myoclonic seizures: Neuroimaging and EEG observations

P. S. Bindu; Sanjib Sinha; A. B. Taly; J. M.E. Kovur; N. Gayathri; G. R. Arunodaya

doi:10.1177/0883073807301931

Menkes syndrome presenting as myoclonic seizures: Neuroimaging and EEG observations

P. S. Bindu, Sanjib Sinha^*, A. B. Taly, J. M.E. Kovur, N. Gayathri, G. R. Arunodaya

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Abstract

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 μg/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.

Original language	English
Pages (from-to)	452-455
Number of pages	4
Journal	Journal of Child Neurology
Volume	22
Issue number	4
DOIs	https://doi.org/10.1177/0883073807301931
Publication status	Published - Apr 2007
Externally published	Yes

Keywords

Menkes kinky hair disease
Myoclonic jerks

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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10.1177/0883073807301931

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title = "Menkes syndrome presenting as myoclonic seizures: Neuroimaging and EEG observations",

abstract = "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 μg/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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AU - Bindu, P. S.

AU - Sinha, Sanjib

AU - Taly, A. B.

AU - Kovur, J. M.E.

AU - Gayathri, N.

AU - Arunodaya, G. R.

PY - 2007/4

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N2 - 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 μg/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.

AB - 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 μg/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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KW - Myoclonic jerks

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Menkes syndrome presenting as myoclonic seizures: Neuroimaging and EEG observations

Abstract

Keywords

ASJC Scopus subject areas

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