An unusual cause for focal convulsions: Menkes kinky hair disease

Article type: Research Article

Authors: Saha, Sudip | Mridha, Dhrubajyoti

Affiliations: Department of Pediatrics, Chittaranjan Seva Sadan, West Bengal, India

Note: [] Correspondence: Dr. Sudip Saha, Kashiniket Flat 3A 190 C Manicktala Main Road, Kolkata 700054, West Bengal, India. Tel.: +91 983 1112705; E-mail: [email protected]

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.

Keywords: Convulsion, trunkal hypotonia, pili torti

DOI: 10.3233/JPN-130608

Journal: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 123-125, 2013