ISSN 2564-7784 | E-ISSN 2564-7040
Case Report
Two Cases of Menkes Diagnosed with Hair Findings and Novel Mutation Menkes Disease: A Report of Two Cases
1 Department of Pediatric Neurology, Kahramanmaraş Sütçü İmam University School of Medicine, Kahramanmaraş, Turkey  
Eur J Ther ; : -
DOI: 10.5152/EurJTher.2018.808
Key Words: Genetic, hypotonia, Menkes disease, hair
Abstract

Menkes disease is a rare neurodegenerative disorder. Its clinical signs and symptoms appear due to a defect in cupper metabolism. The clinical manifestation is marked by pili torti and trichorexis 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. In this paper 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.

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