다발성 뇌 경색이 동반된 색소 실조증 1례
A Case of Incontinentia Pigmenti with Multiple Brain Infarction
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초록
색소 실조증은 드문 성염색체 우성 질환으로 색소 실조증은 태아 상태에서 남자에게는 치명적이기 때문에 이환된 환아는 대부분 여아이다. 색소 실조증은 신경 외배엽성 기원으로 다양한 장기에 영향을 미치며, 피부 이외에도 눈, 머리카락, 치아, 중추 신경계 증상이 동반되기도 한다. 색소 실소증은 성염색체 Xq28에 위치한 NF-kappa B essential modulator (NEMO) 유전자의 돌연변이와 연관이 있다. 다발성 수포성 피부 병변을 주소로 만삭의 여아가 분만직후 전원되어 피부 생검을 통한 조직학적 소견과 NEMO gene에 대한 유전적 검사로 색소 실조증을 확진하였다. 입원 기간동안 시행한 뇌자기공명영상촬영에서 다발성 뇌경색이 확인되었고 외래 추적관찰상 성장 발달지연을 동반하고 있다. 저자들은 유전학적으로 확진된 다발성 뇌경색이 동반된 색소 실조증 1례를 보고하는 바이다.
Abstract
Incontinentia pigmenti (IP) is a rare X-linked dominant disease that is typically lethal to males and usually affect female patients. IP is a neurocutaneous disorder, involving the ectodermal tissues such as the skin, eyes, teeth, hair, and central nervous system. The pathogenesis of IP is linked to the gene mutation in the NF-kappa B essential modulator (NEMO) on chromosome Xq28. We experienced one case of newborn with multiple vesiculobullous skin lesions over the entire body after birth. Skin biopsy and histologic studies revealed suspected IP stage I and the genetic analysis of the NEMO confirmed IP diagnosis. A brain MRI showed multiple cerebral infarctions and the infant has shown delayed development in follow-up clinic.
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