Two Cases of Menkes Disease Diagnosed with Hair Findings and Novel Mutation

Abstract

Menkes disease is a rare neurodegenerative disorder. Its clinical signs and symptoms appear due to a defect in copper metabolism. Its clinical manifestation is marked by pili torti and trichorrhexis nodosa, which are the disease-specific hair findings. Additionally, neurological signs may occur, such as hypotonia and convulsions. Detection of a mutation affecting the P-type ATPase gene is highly specific. The lack of an effective treatment modality has increased the importance of prenatal diagnosis and genetic counseling. Here, we report two patients who were diagnosed with Menkes disease by virtue of hair findings and genetic studies while being tested for hypotonia. One of the patients was detected to have a novel mutation.