Menkes disease is a rare x-linked recessive disorder of copper metabolism characterized by neurodegeneration and brittle kinky hair. We are presenting a case of a 7 month old male infant who was admitted to the hospital with history of convulsions since 4 months of age along with history of on and off cold since 5 months of age. Infant had delayed milestones for his age and truncal hypotonia. The infant had fair complexion with cherubic appearance along with light colored fuzzy, brittle and sparse hair. Based on clinical presentation, menkes disease was suspected and hence serum copper and ceruloplasmin levels were also checked along with the routine blood profile. Routine blood profile analysis were normal  but serum copper  and ceruloplasmin levels were found to be low. Serum copper was 80.77ug/dl and serum ceruloplasmin was <8mg/dl. Light microscopic examination of brittle kinky hair showed pili torti (flattened and twisted hair). MRI showed prominent extraaxial spaces with gliosis. Based on clinical appearance, hair microscopy findings, low serum copper and ceruloplasmin levels, infant was diagnosed as a case of Menkes disease and was managed symptomatically. Genetic study could not be done due to lack of facilities.

Keywords: Menkes disease, Copper, Ceruloplasmin, Pili Torti.

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Dr Asma Arif Hussain

KIMS, Karad