Childhood Ataxia with Diffuse Central Nervous System Hypomyelination(CACH) 증후군 1례 = A Case of Childhood Ataxia with Diffuse Central Nervous system Hypomyelination(CACH) Syndrome

국문 초록 (Abstract)

16개월된 여아로 정상적인 발달을 보이다가 내원 수일 전 돌발진을 앓고 난 후 시작된 기도진전, 운동 조절 실조 및 운동 실조 등 운동 퇴행 증상이 발생하였다가 증상이 호전 된 이후 수두, 폐렴을 앓고 난 뒤에 다시 운동 퇴행 증상과 회복을 보인 CACH 증후군 환아 1례를 문헌 고찰과 함께 보고한다.

다국어 초록 (Multilingual Abstract)

Childhood ataxia with diffuse central nervous system hypomyelination(CACH) syndrome is a recently described leukodystrophy of unknown etiology. The patients show normal development until the age from 1.5 to 5 years, and sudden deterioration of all motor abilities with irritability is presented after a viral infection or minor head trauma. Brain magnetic resonance imaging(MRI) shows generalized hypointensity of the white matter in T1-weighted image, which turns hyperintense in T2-weighted image, and Proton Magnetic Resonance Spectroscopic Imaging(H-MRSI) shows reduced signal of Nacetylaspartate, choline, and creatine only in white matter. Dementia is not present and peripheral nerves are normal. We report a case of CACH syndrome who was born with no perinatal problem, and showed normal development until the age of 16 months. She suddenly lost all motor abilities after exanthem subitum who recovered fully over two months. At the age of 18 months she experienced similar attack after chicken pox, and developed seizures at age of 18 months.