European Journal of Therapeutics
Case Report
Two Cases of Menkes Disease Diagnosed with Hair Findings and Novel Mutation

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

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Division of Pediatric Neurology, Kahramanmaraş Sütçü İmam University School of Medicine, Kahramanmaraş, Turkey

Eur J Ther 2019; 25: 315-317
DOI: 10.5152/EurJTher.2018.808
Read: 203 Downloads: 44 Published: 10 December 2019

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.

How to cite: Işıkay S, Kırık S. Two Cases of Menkes Disease Diagnosed with Hair Findings and Novel Mutation. Eur J Ther 2019; 25(4): 315-7.

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ISSN2564-7784 EISSN 2564-7040
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