ABSTRACT
Neonatal hydrocolpos is a rare condition that involves fluid accumulation in the vagina. On diagnostic imaging, the dilated vagina, along with the compressed uterus, can simulate a mature cystic teratoma with a mural nodule. Herein, we report the case of a newborn girl with congenital hydrocolpos that was caused by an imperforate hymen; the hydrocolpos mimicking a mature cystic teratoma on abdominal ultrasonography and magnetic resonance imaging. Any newborn girl with a pelvic cystic mass should be suspected as having a congenital vaginal obstruction manifesting as hydrocolpos or hydrometrocolpos. Thorough examination of the external genitalia, as well as imaging of the uterus and vagina, enables correct diagnosis and optimal treatment.
Subject(s)
Female , Humans , Infant , Infant, Newborn , Diagnosis , Diagnostic Imaging , Genitalia , Hydrocolpos , Hymen , Magnetic Resonance Imaging , Pelvis , Teratoma , Ultrasonography , Uterus , VaginaABSTRACT
McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12 between D20S162 and D20S894 markers. Mutations in the same gene causes Bardet-Biedl-6 syndrome (BBS-6, OMIM #209900) inherited in an autosomal recessive pattern. BBS-6 comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and genital anomalies. HMC, CHD, and PAP defects can also occur in BBS-6, and there is a significant clinical overlap between MKS and BBS-6 in childhood. We describe a new borderline case of MKS and BBS syndrome and suggest insights for understanding correlation between MKKS gene mutations and clinical phenotype. Here, we report the results of molecular analysis of MKKS in a female proband born in an Italian nonconsanguineous healthy family that presents HMC and PAP. The mutational screening revealed the presence of two different heterozygous missense variants (p.242A>S in exon 3, p.339 I>V in exon 4) in the MKKS gene, and a nucleotide variation in 5’UTR region in exon 2 (-417 A>C).
ABSTRACT
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.
Subject(s)
Child , Female , Humans , Infant, Newborn , Abnormalities, Multiple , Anal Canal , Bardet-Biedl Syndrome , Cystoscopy , Foot , Hand , Heart Defects, Congenital , Hydrocolpos , Hydronephrosis , Intensive Care, Neonatal , Kidney , Learning Disabilities , Magnetic Resonance Imaging , Metacarpal Bones , Metatarsal Bones , Obesity , Palate, Soft , Polydactyly , Renal Insufficiency , Retinal Diseases , Uterine DiseasesABSTRACT
Imperforate hymen is a common congenital malformation, but usually remains asymptomatic and not detected until menarche. Neonatal hydrometrocolpos caused by imperforate hymen is reported to be very rare. We report a case of hydrometrocolpos in newborn presenting with pelvic mass and bulging membrane in vaginal introitus causing both hydronephrosis which is treated surgically with good result.
Subject(s)
Female , Humans , Infant, Newborn , Hydronephrosis , Hymen , Membranes , MenarcheABSTRACT
Neonatal hydrometrocolpos is the cystic dilatation of the vagina and uterus, which is caused by the combination of vaginal obstruction such as imperforate hymen, transverse vaginal septum, or vaginal atresia, and glandular secretion by maternal estrogenic stimulation. Although hydrometrocolpos is a rare congenital abnormality unlike pubertal hematocolpos, it is one of the relatively common abdominal masses in neonates. In typical cases the diagnosis may be determined easily by the combination of a pelvic mass, upper urinary tract dilatation and a bulging membrane in the vaginal introitus. The presense of a lower abdominal mass in a female infant should always arouse suspicion of hydrometrocolpos and lead to careful examination of the vagina. We report a case of neonatal hydrometrocolpos due to imperforate hymen which was initially presented as a large abdominal mass and a bulging membrane in the vaginal introitus. For 72 hrs, the abdominal mass increased rapidly, accompanied by urinary tract obstruction. It was relieved by a simple incision of the imperforate hymen and drainage of 300 cc of whitish mucoid vaginal fluid, and by Foley catheter drainage of 750 cc urine. No other anomaly was observed.
Subject(s)
Female , Humans , Infant , Infant, Newborn , Catheters , Congenital Abnormalities , Diagnosis , Dilatation , Drainage , Estrogens , Hematocolpos , Hymen , Membranes , Urinary Tract , Uterus , VaginaABSTRACT
Cloacal anomalies are very rare congenital malformations with the incidence of 1/50,000-250,000 births. Hydrocolpos involves the dilatation of the vagina due to obstruction of the genital tract, leading to accumulation of secretions. Because of wide spectrum of abnormal anatomy involving urogenital and gastrointestinal systems, prenatal diagnosis is difficult. As ultrasound becomes more and more reliable, prenatal diagnosis is possible as early as in the second trimester. The presence of prenatally detected hydro (metro) colpos warrants a systematic evaluation of fetal and neonatal anatomy to rule out a large variety of possibly associated malformations or syndromes. We present a case of urogenital sinus maldevelopment which was initially presented as a fetal ascites.
Subject(s)
Female , Humans , Pregnancy , Ascites , Dilatation , Hydrocolpos , Incidence , Parturition , Pregnancy Trimester, Second , Prenatal Diagnosis , Ultrasonography , VaginaABSTRACT
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.
Subject(s)
Female , Humans , Infant , Infant, Newborn , Catheterization , Catheters , Drainage , Estrogens , Fistula , Hymen , Parturition , Ultrasonography , Uterus , VaginaABSTRACT
No abstract available.