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 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.
authors.affiliation: Department of Neurology, NIMHANS, Karnataka, India.
authors.forename: P S
authors.initials: PS
authors.lastname: Bindu
authors.forename: S
authors.initials: S
authors.lastname: Sinha
authors.forename: A B
authors.initials: AB
authors.lastname: Taly
authors.forename: J M E
authors.initials: JM
authors.lastname: Kovur
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.forename: G R
authors.initials: GR
authors.lastname: Arunodaya
mesh_terms: D004569:Electroencephalography / Q000379:methods; D004831:Epilepsies, Myoclonic / Q000209:etiology* / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications*