Jin Sook Lee1, Byung Chan Lim1, Ki Joong Kim1, Yong Seung Hwang1, Jung-Eun Cheon2, In-One Kim2, Moon-Woo Seong3, Sung Sup Park3, Jong-Hee Chae4. 1. Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea, Seoul National University College of Medicine, South Korea. 2. Department of Radiology, Seoul National University College of Medicine, South Korea. 3. Department of Laboratory Medicine, Seoul National University Hospital, South Korea. 4. Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea, Seoul National University College of Medicine, South Korea. Electronic address: chaeped1@snu.ac.kr.
Abstract
OBJECTIVE: Menkes disease (MD) is an X-linked recessive disorder characterized by progressive neuro-degeneration. There are few reports of epilepsy and electroencephalography (EEG) findings and few reports of MD patients in Korea. We explored MD genotypes and phenotypes, including epilepsy, in Korean patients. PATIENTS AND METHODS: All patients diagnosed as MD in our hospital, seven males, were included in this study. Their medical records and EEG findings were reviewed retrospectively. RESULTS: All male patients had developmental delay/regression with hypotonia, and the appearance of their hair and skin was characteristic of MD. A recurrent missense mutation was found in two patients. Two nonsense mutations and one gross deletion were also found. The five male patients with identified molecular defects experienced anticonvulsant-resistant seizures. EEGs in focal seizures usually revealed interictal focal epileptiform discharges over the posterior region without focal slowing. This was followed by modified hypsarrhythmia with less polymorphic background activity in spasms and anteriorly dominant diffuse slowing with generalized and multifocal epileptiform discharges in myoclonic or generalized tonic seizures. Two patients with the same G727R missense mutation both developed seizures that evolved with age but differed in severity. CONCLUSIONS: G727R missense mutation may be relatively common in Korea, as in other countries. There was no clear correlation of genotype with phenotype, even in epilepsy and EEG abnormalities.
OBJECTIVE:Menkes disease (MD) is an X-linked recessive disorder characterized by progressive neuro-degeneration. There are few reports of epilepsy and electroencephalography (EEG) findings and few reports of MD patients in Korea. We explored MD genotypes and phenotypes, including epilepsy, in Korean patients. PATIENTS AND METHODS: All patients diagnosed as MD in our hospital, seven males, were included in this study. Their medical records and EEG findings were reviewed retrospectively. RESULTS: All male patients had developmental delay/regression with hypotonia, and the appearance of their hair and skin was characteristic of MD. A recurrent missense mutation was found in two patients. Two nonsense mutations and one gross deletion were also found. The five male patients with identified molecular defects experienced anticonvulsant-resistant seizures. EEGs in focal seizures usually revealed interictal focal epileptiform discharges over the posterior region without focal slowing. This was followed by modified hypsarrhythmia with less polymorphic background activity in spasms and anteriorly dominant diffuse slowing with generalized and multifocal epileptiform discharges in myoclonic or generalized tonic seizures. Two patients with the same G727R missense mutation both developed seizures that evolved with age but differed in severity. CONCLUSIONS:G727R missense mutation may be relatively common in Korea, as in other countries. There was no clear correlation of genotype with phenotype, even in epilepsy and EEG abnormalities.
Authors: Mi Young Kim; Ji Hyun Kim; Myung Hyun Cho; Young Hun Choi; Seong Heon Kim; Young Jae Im; Kwanjin Park; Hee Gyung Kang; Jong-Hee Chae; Hae Il Cheong Journal: J Korean Med Sci Date: 2018-12-26 Impact factor: 5.354