Menkes disease: A rare disorder

Sidra Kaleem Jafri, Raman Kumar, Shazia Kulsoom Lashari, Prem Chand

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Physical examination showed sparse and kinky hair. Neurological examination revealed a central hypotonia with marked decrease in muscle power with normal deep tendon reflexes. The serum ceruloplasmin level and serum copper level were decreased. Ultrasound KUB showed Hutch diverticulum along left ureteric orifice. Magnetic resonance imaging (MRI) carried out at five months of age showed frontal cortical atrophy. His EEG was consistent with hypsarrythmia pattern. Patients with classic MD usually exhibit a severe neurodegenerative course, with poor long term outcome and death before the third year of life.

Original languageEnglish
Pages (from-to)1609-1611
Number of pages3
JournalJournal of the Pakistan Medical Association
Volume67
Issue number10
Publication statusPublished - Oct 2017

Keywords

  • Hypsarrythmia
  • Infantile spasms
  • Menkes disease

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