J Korean Child Neurol Soc.
2018 Jun;26(2):109-112. 10.26815/jkcns.2018.26.2.109.
Clinical Findings of Menkes Disease and the Treatment of Epilepsy
- Affiliations
-
- 1Department of Pediatrics, Konkuk University Medical Center, Seoul, Korea.
- 2Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea. 20050069@kuh.ac.kr
- KMID: 2435246
- DOI: http://doi.org/10.26815/jkcns.2018.26.2.109
Abstract
- Menkes disease (also known as kinky hair disease) is an X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by kinky hair, hypotonia, and generalized myoclonic seizures. Here, we report a case of Menkes disease in which the patient presented with progressive hypotonia and intractable seizures. A 4-month-old male infant visited our pediatric clinic for focal seizures with blinking eyes. He was generally hypotonic and suffered from malnutrition. The focal seizures became more frequent, and the patient became intractable to anti-seizure medications. An electroencephalogram (EEG) indicated diffuse cerebral dysfunction with focal seizure, and a brain magnetic resonance imaging (MRI) showed tortuous and ectatic intracranial arteries, as well as several ischemic lesions. A genetic analysis was performed, and a c.2473_2474del (p.Leu825fsX1) of the ATP7A gene was detected.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Case of Menkes Disease First Manifested as Severe Vesicoureteral Reflux Caused by a Novel Mutation in ATP7A Gene
- 3-year Follow-up of a Menkes Disease Patient
- Vesicostomy for Upper Urinary Tract Preservation in Menkes Disease
- An Anesthetic Experience in a Patient with Menkes Disease: A case report
- A case of Menkes disease with unusual hepatomegaly
