• Clinical and Experimental Pediatrics
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• 제45권2호
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• pp.278-283
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• 2002

저자들은 출생시 복강내 큰낭종성 종괴에 의한 복부팽만을 주소로 입원한 환아들에서 초음파검사, 복부 컴퓨터단층촬영, 형광경 등을 이용한 조영술로 질자궁수종과 신수종을 비롯한 동반된 여러 합병증을 진단하였으며 경피적 도관을 질자궁수종내에 삽입, 유치함으로써 지속적인 배액을 유지하여 감압 치료를 하면서 외래에서 추적 관찰 중으로 8개월 현재 8.15 kg으로 양호한 건강상태를 보이고 있으며 질 재건술을 시행할 예정이다.

• Clinical and Experimental Pediatrics
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• 제54권5호
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• pp.219-223
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• 2011

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.