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Ann Child Neurol > Volume 25(4); 2017 > Article
Journal of the Korean Child Neurology Society 2017;25(4):261-265.
DOI: https://doi.org/10.26815/jkcns.2017.25.4.261    Published online December 30, 2017.
A Case of Menkes Disease First Manifested as Severe Vesicoureteral Reflux Caused by a Novel Mutation in ATP7A Gene.
Sun A Kang, Seung Woo Jeong, Eun Hye Lee
Department of Pediatrics, College of Medicine, Kyung Hee University, Seoul, Korea. leeeh80@khmc.or.kr
Menkes disease is a rare, neurodegenerative, copper metabolism disorder characterized by mutations in ATP7A gene. Clinical symptoms include epilepsy, growth delay, reduced muscle strength, skin hyperextension, hair deformation and urologic abnormalities. However, since these clinical symptoms occur 2–3 months after birth, early diagnosis of Menkes disease is very difficult for clinicians. We report here the case of a patient who initially presented urinary tract infection followed by neurologic symptoms of Menkes disease; he was accurately diagnosed via ATP7A genetic analysis and found to harbor a novel mutation. Although neurological symptoms are the primary diagnostic feature of Menkes disease, clinicians should take into account urinary abnormalities as well, which may be an important clue to the early diagnosis of these patients.
Key Words: Menkes disease, Vesicourethral reflux, ATP7A, mutation


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