영아형 알렉산더 병 1례 = A Case of Infantile Alexander Disease

국문 초록 (Abstract)

저자들은 경련을 일으킨 후 시행한 뇌 자기공명영상에서 광범위한 뇌백질의 변화가 발견된 알렉산더 병 환자를 관찰하여 문헌 고찰과 함께 보고하는 바이다. 이 환자는 로젠탄 섬유의 형성에 관여하는 GFAP 유전자에 돌연변이가 있었고 이것은 알렉산더 병의 진단에 이용되었다. 첫 내원 당시 발달은 정상이었으나 3개월 후 시행한 발달 검사에서 퇴행하는 양상을 보였다. 환아는 항경련제로 경련을 조절하면서 신경운동치료 중으로 경과관찰이 필요하다.

다국어 초록 (Multilingual Abstract)

Alexander disease(AD) is a rare fatal demyelinating disorder, caused by the mutation of glial fibrillary acidic protein(GFAP) gene. It is characterized by progressive demyelination of central nervous system, and the accumulation of Rosenthal fibers within astrocytes. It is divided into three group: infantile, juvenile, and adult. The infantile type is most common, has onset during the first 2 years of life. It shows macrocephaly and psychomotor delay, spastic paraparesis, seizure, and feeding problems, and usually dies within the first decade. The severity of the pathological changes depend on the age of onset. Radiological study revealed white matter loss, usually with frontal predominance. It is diagnosed by DNA analysis. We present case of a 10-month-old male patient with AD. He had focal seizures, demyelination in the frontal lobe in MRI, and the presence of a K86E mutaion in the GFAP gene, involving the replacement of adenosine with guanine.

참고문헌 (Reference)

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