• Clinical and Experimental Pediatrics
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• v.45 no.2
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• pp.278-283
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• 2002

Imperforated hymen, vaginal atresia or high transverse vaginal septum are caused by incomplete vaginal canalization. The infant may be present with distention of the vagina and the uterus with glandular secretions stimulated by maternal estrogens, known as hydrometrocolpos. We report two cases of hydrometrocolpos. In the first case, distal vaginal atresia with cystovaginal fistula was revealed by a contrast fluoroscope through the percutaneous catheterization. In the second case, urogenital sinus was detected by a fistulogram through a single orifice in the genital area. We decompressed the cystic mass by ultrasonogram guided aspiration, promptly at birth, then achieved the transient drainage of cystic fluids by percutaneous catheterization.

• Clinical and Experimental Pediatrics
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• v.54 no.5
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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.