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 journalArticlepeer-review

10 Citations (Scopus)


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 languageEnglish
Pages (from-to)452-455
Number of pages4
JournalJournal of Child Neurology
Issue number4
Publication statusPublished - Apr 2007
Externally publishedYes


  • Menkes kinky hair disease
  • Myoclonic jerks

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


Dive into the research topics of 'Menkes syndrome presenting as myoclonic seizures: Neuroimaging and EEG observations'. Together they form a unique fingerprint.

Cite this