Menkes Kinky Hair Disease: Case Report and Review of Literature

Abstract

Menkes kinky hair disease or Menkeys disease is a rare x linked disorder causes by mutation of the ATP7A gene that regulates the metabolism of copper. Here we discuss an eight month old male infant with protein energy malnutrition who was admitted in the hospital with history of delayed milestones of poor head control and no rolling over. Clinically  infant had fair complexion, with short, sparse, thin , brittle and kinky hair. Inverstigations revealed low Serum copper   and Serum ceruloplasmin levels. MRI of brain showed benign enlargement of subarchnoid space in bilateral frontotemporal region. Microscopic examination of hair showed pili torti(twisted hair shaft), Trichoscopic examination showed coiled and twisted hair. The patient was diagnosed as Menkes disease and treated symptomatically . Due to lack of facilities genetic study was not performed. Menkes disease patient experience severe clinical course with death by 3 years. Prenatal diagnosis with chorionic villus sampling will help in early diagnosis in women with carrier states.