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BMJ Case Reports Jun 2020Pseudohypoaldosteronism (PHA) due to obstructive uropathy, urinary tract infections and congenital urogenital malformations has been reported in the literature; however,...
Pseudohypoaldosteronism (PHA) due to obstructive uropathy, urinary tract infections and congenital urogenital malformations has been reported in the literature; however, there are no reports of PHA associated with hydrometrocolpos due to a common urogenital tract. Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. We report on a neonatal case of PHA caused by recurrent hydrometrocolpos presenting with vomiting and poor weight gain. There was significant hyponatraemia, hyperkalaemia, and anaemia requiring medical stabilisation prior to surgery. The mechanism by which PHA occurs in obstruction involves renal tubular dysfunction due to pressure from hydronephrosis and the release of intrarenal cytokines. In addition, there is an immature or resistant renal tubular responsiveness to aldosterone during infancy. Clinicians should be aware of this uncommon but serious presentation.
Topics: Anemia; Female; Humans; Hydrocolpos; Hyperkalemia; Hyponatremia; Infant, Newborn; Magnetic Resonance Imaging; Pseudohypoaldosteronism; Radiography, Abdominal; Urogenital Abnormalities; Uterus; Vagina
PubMed: 32595115
DOI: 10.1136/bcr-2020-234813 -
Archives of Disease in Childhood Mar 1942
PubMed: 21032218
DOI: 10.1136/adc.17.89.56 -
Ultrasound in Obstetrics & Gynecology :... Apr 2011Anterior sacral meningocele is an extremely rare condition and there has been only one previous report of a prenatal diagnosis. We report the case of a 36-year-old...
Anterior sacral meningocele is an extremely rare condition and there has been only one previous report of a prenatal diagnosis. We report the case of a 36-year-old primigravida who was referred following detection of a huge fetal pelvic cyst on routine ultrasound examination at 19 + 4 weeks' gestation. Neither fetal ultrasound nor magnetic resonance imaging (MRI) at 20 + 5 weeks' gestation could detect communication between the cyst and the spinal cord. Because extension of the pear-shaped cyst through the pelvic diaphragm down to the perineum was reminiscent of dilated vagina and uterine cervix, a tentative diagnosis of hydrometrocolpos secondary to imperforate hymen was considered. On follow-up MRI at 33 + 5 weeks' gestation, a narrow stalk connecting the pelvic cyst and the spinal canal through the anterior sacral foramen was clearly delineated, allowing us to reach the prenatal diagnosis of anterior sacral meningocele.
Topics: Abnormalities, Multiple; Adult; Diagnosis, Differential; Female; Heart Defects, Congenital; Humans; Hydrocolpos; Infant, Newborn; Magnetic Resonance Imaging; Meningocele; Polydactyly; Pregnancy; Prenatal Diagnosis; Sacrococcygeal Region; Ultrasonography, Prenatal; Uterine Diseases
PubMed: 20882559
DOI: 10.1002/uog.8852 -
Pediatric Surgery International Aug 2012With the advance of prenatal imaging, more often pediatric surgeons are called for prenatal counseling in suspected cases of cloaca or cloacal exstrophy. This presents...
INTRODUCTION
With the advance of prenatal imaging, more often pediatric surgeons are called for prenatal counseling in suspected cases of cloaca or cloacal exstrophy. This presents new challenges for pediatric surgeons since no specific guidelines have been established so far. The purpose of this review is to analyze our experience in prenatally diagnosed cloaca or cloacal exstrophy and to provide some guidelines for prenatal counseling of these complex congenital anomalies.
METHODS
A retrospective review of the medical charts of patients with prenatally diagnosed cloaca and cloacal exstrophy who received postnatal care in our institution between July 2005 and March 2012 was performed. Representative images of prenatal studies were selected from 13 cases to illustrate different scenarios and the recommendations given. In addition, a review of the literature was performed to support our advice to parents.
RESULTS
Eleven patients were female and two patients were male. The postnatal diagnoses were cloacal exstrophy (6), cloaca (5), posterior cloaca variant (1), and covered cloacal exstrophy (1). The selected abnormal prenatal imaging findings in these 13 patients included hydronephrosis (12), neural tube defect (8), omphalocele (7), lack of meconium at expected rectal location (7), vertebral anomaly (7), non-visualize bladder (5), distended bladder (5), hydrocolpos (4), dilated or echogenic bowel (3), umbilical cord cyst (3), separated pubic bones (2), and the "elephant trunk" sign (2). The prenatal diagnosis was correct in 10 cases, partially correct in two cases, and it was missed in one case. All parents received prenatal counseling depending on the specific diagnosis.
CONCLUSION
The continuous technologic innovations in prenatal imaging make it possible to prenatally diagnose more complex anomalies including cloaca and cloacal exstrophy with increased levels of confidence and enhance the benefit of prenatal counseling. Together, these allow the parents to be better prepared for the condition and the care team to provide the best possible initial management in order to improve the outcomes of these challenging patients.
Topics: Abnormalities, Multiple; Bladder Exstrophy; Cloaca; Counseling; Female; Humans; Hydrocolpos; Hydronephrosis; Magnetic Resonance Imaging; Male; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal; Ureteral Diseases; Urogenital Abnormalities
PubMed: 22878705
DOI: 10.1007/s00383-012-3133-3 -
BMJ Case Reports Mar 2011A 24-year-old primigravid women with no remarkable history and antenatal follow-up was referred to our clinic with the diagnosis of fetal megacystis. Ultrasound...
A 24-year-old primigravid women with no remarkable history and antenatal follow-up was referred to our clinic with the diagnosis of fetal megacystis. Ultrasound examination revealed an oval shaped hypoechoic cystic mass measuring 80×55×50 mm occupying the fetal pelvis in a female fetus. The fluid inside the cyst was heterogeneous giving a two level appearance. A normal looking urinary bladder was visualised separately which was located in normal position. Further sonographic evaluation revealed postaxial polydactyly in both hands. The fetal echocardiography and amniotic fluid index was normal. An obstetrical MRI was done for the suspicion of a hydrometrocolpos and confirmed the diagnosis. The infant was delivered by vaginal route at term. Physical examination of neonate confirmed postaxial polydactyly in hands. After birth a cystoscopy performed by the paediatric surgeons revealed a urogenital sinus and vaginal atresia. A catheter was placed in the uterine cavity to drain it. Nine months later the baby went on a 'vaginal pull through' operation to reconstruct the vagina and the urethra. The baby is now 3 years old and doing well.
Topics: Abnormalities, Multiple; Adult; Bardet-Biedl Syndrome; Diagnosis, Differential; Female; Heart Defects, Congenital; Humans; Hydrocolpos; Infant, Newborn; Magnetic Resonance Imaging; Polydactyly; Pregnancy; Ultrasonography, Prenatal; Uterine Diseases
PubMed: 22699466
DOI: 10.1136/bcr.02.2011.3808 -
African Journal of Paediatric Surgery :... 2016Hydrometrocolpos (HMC) is a clinical condition in which there is a cystic distension of the vagina (hydrocolpos), uterus and sometimes, fallopian tubes (hydrosalpinx)...
BACKGROUND
Hydrometrocolpos (HMC) is a clinical condition in which there is a cystic distension of the vagina (hydrocolpos), uterus and sometimes, fallopian tubes (hydrosalpinx) with fluid. This study described our experience with cases of HMC seen in our practice, and highlighted the flare in our practice.
PATIENTS AND METHODS
A retrospective study of cases of HMC managed at the University of Port Harcourt Teaching Hospital between September 2010 and August 2012.
RESULTS
There were seven cases; their ages ranged from 2 to 27 days (median 13 days). All the patients had abdominal distension but abdominal mass was obvious only in four. Other features varied depending on the presence of sepsis or other associated anomalies. The diagnosis of HMC was missed in all cases by the referring clinicians. One patient was referred with the diagnosis of tracheoesophageal fistula and esophageal atresia, 2 with bladder outlet obstruction, 1 with intestinal obstruction, 2 with anorectal malformation, and 1 with neonatal sepsis. Ultrasound identified bulky uterus in two cases and upper urinary tract dilatation in 3 patients. Six patients had laparotomy, 1 had hymenotomy only. Postoperative complications were basically wound sepsis and rectovaginal fistula resulted.
CONCLUSION
Diagnosis of HMC should be considered as a differential in newborn girls presenting with lower abdominal mass. Attention to clinical detail is necessary to avoid a misdiagnosis.
Topics: Disease Management; Female; Humans; Hydrocolpos; Incidence; Infant, Newborn; Nigeria; Radiography, Abdominal; Retrospective Studies; Ultrasonography; Vagina
PubMed: 28051043
DOI: 10.4103/0189-6725.194666 -
PLoS Genetics Jul 2017Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as...
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects. Congenital heart defects are rare in BBS, and McKusick-Kaufman syndrome patients do not develop retinitis pigmentosa. Therefore, the McKusick-Kaufman syndrome allele may highlight cellular functions of BBS6 distinct from the presently understood functions in the cilia. In support, we find that the McKusick-Kaufman syndrome disease-associated allele, BBS6H84Y; A242S, maintains cilia function. We demonstrate that BBS6 is actively transported between the cytoplasm and nucleus, and that BBS6H84Y; A242S, is defective in this transport. We developed a transgenic zebrafish with inducible bbs6 to identify novel binding partners of BBS6, and we find interaction with the SWI/SNF chromatin remodeling protein Smarcc1a (SMARCC1 in humans). We demonstrate that through this interaction, BBS6 modulates the sub-cellular localization of SMARCC1 and find, by transcriptional profiling, similar transcriptional changes following smarcc1a and bbs6 manipulation. Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the congenital heart defects in McKusick-Kaufman syndrome patients.
Topics: Abnormalities, Multiple; Active Transport, Cell Nucleus; Animals; Animals, Genetically Modified; Bardet-Biedl Syndrome; Chromatin; Chromatin Assembly and Disassembly; Cilia; Cytoplasm; Disease Models, Animal; Group II Chaperonins; Heart Defects, Congenital; Humans; Hydrocolpos; Mice; Mutation; Polydactyly; Protein Transport; Transcription Factors; Uterine Diseases; Zebrafish
PubMed: 28753627
DOI: 10.1371/journal.pgen.1006936 -
Taiwanese Journal of Obstetrics &... Jun 2014McKusick-Kaufman syndrome (MKS) is a rare autosomal recessive syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). It is very difficult to...
OBJECTIVE
McKusick-Kaufman syndrome (MKS) is a rare autosomal recessive syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). It is very difficult to diagnose MKS prenatally because of overlapping manifestations and associated anomalies with other syndromes. Herein, we present a case of MKS with prenatal ultrasound illustrating a fetal abdominal cystic mass.
CASE REPORT
A 33-year-old woman, gravida 3 para 2, was referred to our obstetrics clinic at 34 weeks' gestation for fetal abdominal cyst detected by prenatal ultrasound. Our ultrasound illustrated a fetal abdominal cystic mass with two communicating components (suspected HMC) and polydactyly involving both hands and feet. At birth, the gross appearance revealed abdominal distention, vulva edema, and PAP. MKS was highly suspected. Abdominal computed tomography (CT) at 3 days of life showed HMC with a transverse vaginal septum. At 3 months of age, she received colpotomy and vaginal reconstruction to relieve the abdominal distension by HMC. Then she accepted corrections of PAP of both hands and feet at 8 months and 10 months. At 5 years of age, her body and mental development did not show any retardation. Pediatric ophthalmologic examination revealed no specific findings. Given the above evidences, the diagnosis of MKS was finally made at 5 years of age.
CONCLUSION
Rare syndromes like MKS may need early comprehensive evaluations and consultations. Although prenatal diagnosis might be impossible for MKS, prenatal awareness by fetal ultrasound is very helpful to assist early management and maternal transfer. The final diagnosis and appropriate management of MKS requires the collaboration of obstetricians, geneticists, pediatricians, and ophthalmologists as soon as abnormal signs are detected in utero.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Female; Heart Defects, Congenital; Humans; Hydrocolpos; Infant; Infant, Newborn; Polydactyly; Pregnancy; Ultrasonography, Prenatal; Uterine Diseases
PubMed: 25017277
DOI: 10.1016/j.tjog.2012.07.042 -
Journal of the Royal Society of Medicine Jul 1983The presenting features and associated abnormalities of imperforate hymen and vaginal atresia were studied in 24 girls under the age of 16 years. Hydrocolpos or...
The presenting features and associated abnormalities of imperforate hymen and vaginal atresia were studied in 24 girls under the age of 16 years. Hydrocolpos or hydrometrocolpos occurred in 8 infants, 13 older girls developed haematocolpos, but 3 of the girls had no distension of the genital tract. Seven of the older girls were diagnosed as having appendicitis. Anorectal anomalies were present in 9 of the children. Intravenous pyelography was performed on 16 girls and was normal in only one. Urinary tract investigations are indicated in all girls with vaginal outlet obstruction, and the vaginal orifice should be inspected in all girls with anorectal abnormalities.
Topics: Adolescent; Anal Canal; Child; Female; Hematocolpos; Humans; Hymen; Infant, Newborn; Puberty; Rectum; Retrospective Studies; Urinary Tract; Vagina; Vaginal Diseases
PubMed: 6876046
DOI: 10.1177/014107688307600707 -
International Journal of Urology :... Jun 2001A cloacal anomaly results from incomplete urorectal division and is frequently associated with genitourinary abnormalities. Experience of the urological reconstruction...
BACKGROUND
A cloacal anomaly results from incomplete urorectal division and is frequently associated with genitourinary abnormalities. Experience of the urological reconstruction of this entity is reported.
METHODS
Nine girls with cloacal malformation have been treated at the Osaka Medical Center in the past 9 years. Seven patients were detected by prenatal ultrasonography as having: megacystis (two patients); hydronephrosis (two patients); or hydrometrocolpos (three patients). Two patients underwent prenatal shunt placement between the enlarged bladder and the amniotic space.
RESULTS
For neonatal urinary diversion, four patients received cystostomy. Six of seven patients with associated hydrocolpos required intermittent catheterization to decompress an enlarged vagina. Vesicoureteral reflux was detected in 12 ureters of seven patients. Antireflux surgery was indicated in four patients before definitive repair. Definitive reconstruction was performed on eight patients. The posterior sagittal approach was used in all patients. Vaginal reconstruction was done utilizing a perineal skin flap (one patient), a tubularized vaginal flap (three patients), distal rectum (three patients) and total urogenital mobilization (one patient). Postoperatively, urethrovaginal fistula was created in one patient and complete occlusion was seen in one patient.
CONCLUSION
The anatomical variety of this entity determines the management options from in utero. It involves not only the creation of three perineal orifices, but also a continent, catheterizable urethra under the stabilization of renal function. Accomplishment of the definitive repair requires the combined expertise of experienced pediatric surgeons and pediatric urologists.
Topics: Clitoris; Cloaca; Colostomy; Cystostomy; Female; Humans; Infant, Newborn; Plastic Surgery Procedures; Rectovaginal Fistula; Urinary Bladder; Urination; Vagina
PubMed: 11389743
DOI: 10.1046/j.1442-2042.2001.00300.x