ISSN 2149-2247 | E-ISSN 2149-2549
Case Report
De Novo Mutation in ATP7A Gene with Severe Menkes Disease
1 Department of Pediatric Nutrition and Metabolism, Health Sciences University, Kayseri Training and Research Hospital, Kayseri, Turkey  
2 Department of Pediatric Neurology, Health Sciences University, Kayseri Training and Research Hospital, Kayseri, Turkey  
3 Department of Genetic Clinic, Health Sciences University, Kayseri Training and Research Hospital, Kayseri, Turkey  
4 Department of Pediatric Genetic Clinic, Health Sciences University, Kayseri Training and Research Hospital, Kayseri, Turkey  
5 Department of Pediatric Infectious Disease, Health Sciences University, Kayseri Training and Research Hospital, Kayseri, Turkey  
Erciyes Med J 2018; 40: 99-102
DOI: 10.5152/etd.2018.0103
Key Words: ATP7A, De Novo Mutation, Menkes Disease
Abstract

Menkes disease (MD) is an X-linked neurodegenerative disorder, which occurs in early infancy, and is caused by the impairment of P-type ATPase.

An 8-month-old boy presented with seizure and difficulty of feeding. His hair was blond, thin, and weak. He had poor head control and could not sit. The microscopic appearance of the patient’s hair was pili torti. Brain magnetic resonance imaging revealed diffuse cerebral and cerebellar atrophy, and vascular tortuosity was observed in both middle cerebral and vertebrobasilar arteries in magnetic resonance angiography. Molecular genetic analysis was performed for suspected MD and a hemizygous mutation (p. G1118S [c.3352G>A]) was detected in ATP7A gene.

Although it is not specific for the disorder, microscopy of the hair allows early diagnosis when the differential diagnosis is broad or other tests are not conclusive. Since it is a fatal neurodegenerative disorder, genetic counseling must be provided to the family.

 

Cite this article as: Soylu Üstkoyuncu P, Güven AS, Kiraz A, Yılmaz A, Bozdemir ŞE, Gökay S. De Novo Mutation in ATP7A Gene with Severe Menkes Disease. Erciyes Med J 2018; 40(2): 99-102

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