Journal of Pediatric Neurology 2013; 11(02): 123-125
DOI: 10.3233/JPN-130608
Case Report
Georg Thieme Verlag KG Stuttgart – New York

An unusual cause for focal convulsions: Menkes kinky hair disease

Sudip Saha
a   Department of Pediatrics, Chittaranjan Seva Sadan, West Bengal, India
,
Dhrubajyoti Mridha
a   Department of Pediatrics, Chittaranjan Seva Sadan, West Bengal, India
› Author Affiliations

Subject Editor:
Further Information

Publication History

21 April 2012

31 August 2012

Publication Date:
30 July 2015 (online)

Abstract

A 6-month-old male infant was admitted to hospital with the history of repeated attacks of focal convulsions since 1 day prior to admission. He was also suffering from frequent attacks of cough and cold since 5 months of age, which was marked prior to admission. The infant had fair complexion, sparse fuzzy woolly hair with marked trunkal hypotonia. Serum copper and ceruloplasmin levels were low, magnetic resonance imaging showed diffuse cerebral atrophy with ill-defined areas of encephalomalacia. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities, we were not able to do magnetic resonance angiography and genetic study.