맥락총 비대에 의한 수두증을 동반한 9p Tetrasomy 1례

A Case of 9p Tetrasomy Associated with Hydrocephalus due to Hypertrophy of Choroid Plexus.

저자들은 안면 이형성증을 주소로 내원한 환아에서 실시한 염색체 검사상 9p tetrasomy로 지단 받은 후 두위가 체중 및 신장에 비해 상대적으로 증가되어 있어 실시한 뇌 자기공명영상에서 맥락총의 비대가 수두증이 보였던 경우를 경험하였다.

9p Tetrasomy is rare chromosomal aberration that was described in approximately 30 previous patients in the world and this is the first described in Korea, Here we report a 3 month-old boy who was referred for genetic evaluation because of facial dysmorphism, such as wide fontanells, hypertelorism, bulbous nose, low set eaes, cleft lip and palate. He had also psychomotor retardation and hypotonia. He was diagnosed as tetrasomy 9p syndrome by clinical feature and chromosomal study. Thereafter, increased growing of head size compared with body weight and height was observed and brain MRI shows hydrocephaly associated with remarkable hypertrophy of choroid plexus and mild Dandy Walker syndrome.