Publications

Abstract : pMenkes disease (MD) is a rare, lethal multisystemic disorder of copper metabolism characterized by cerebral and cerebellar neurodegeneration, fair skin with peculiar “kinky hair” and connective tissue abnormalities. It is an x-linked recessive disorder leading to copper deficiency which usually occurs in newborn babies which can even lead to death. The main characteristic features include low serum copper, developmental delay, osteopenia, tortuous vessels on imaging, hair changes, axial hypotonia, ceruloplasmin, elevated lactate levels, and recurrent respiratory tract infection. Here, we report the case of a 10-month-old male child presented with soft skin with wrinkling of skin, difficulty in holding neck, graying of hair, seizure, and respiratory tract infection. Thereby, he was diagnosed to have MD and was treated with copper supplements. However, the patient was expired at an age of 2 years. There are reports suggest that a critical period of 2 months of neonatal life within which the treatment showed a beneficial outcome with up to 50% successful cure rates. In India, very few cases are reported about this disease, which increases the relevance of this report. Further studies regarding this disease are necessary for establishing better treatment modalities. Early diagnosis and medical management of MD is crucial to improve the survival rate of patients./p