Rare case of pseudohypoaldosteronism in a neonate secondary to congenital hydrometrocolpos.

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.

Robot-assisted repair of a urogenital sinus with an anorectal malformation in a patient with McKusick-Kaufman syndrome.

INTRODUCTION: A urogenital sinus (US) and an anorectal malformation (ARM) are a rare constellation of anomalies, and the optimal surgical approach is unclear. Open and laparoscopic approaches have been described for US and ARM, but no data exist to support robotic assistance in children. CASE: A 20-month-old Amish female presented to the study center with fever and abdominal pain. Abdominal ultrasound showed a large fluid-filled vagina, urinalysis was positive, and she was admitted for antibiotic therapy. Magnetic resonance imaging (MRI) confirmed hydrocolpos. An examination under anesthesia including cystoscopy demonstrated a short perineal body, an anteriorly displaced anus by muscle stimulation, and no vaginal opening. An ultrasound-guided, percutaneous vaginostomy tube was placed, and 650 cc of pus was drained. Vaginal and urine cultures grew similar strains of Escherichias coli. After a course of antibiotics, she underwent a robot-assisted mobilization of the intra-abdominal vagina and uterus, posterior sagittal anorectoplasty, vaginal pull-through, and a diverting colostomy. There were no intra-operative complications. Her Foley catheter was removed on post-operative day #3, and she voided spontaneously and was discharged in good condition. She remained in the hospital for ostomy teaching, but pain control and diet were not barriers to discharge after 12 h. CONCLUSION: Robotic mobilization of the intra-abdominal vagina in a pediatric patient with US and ARM is technically feasible and can be accomplished safely. Further comparative studies to other approaches are lacking. In this case, the robot allowed for good visualization, intra-operative collaboration between multiple specialties for complex patients with aberrant anatomy, and easy dissection in a narrow pre-pubertal pelvis and would be an approach that the study group uses in future cases.

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.

BACKGROUND: Paediatric cutaneous granuloma with primary immunodeficiency (PID) is a rare condition. The physiopathology is unclear, and treatment is challenging. We report on 17 paediatric cases and review the literature. OBJECTIVES: To make dermatologists and dermatopathologists aware of the diagnostic value of skin granulomas in paediatric PID. METHODS: We collected data on 17 patients with cutaneous granulomas and PID registered with us and also reviewed 33 cases from the literature. RESULTS: Cutaneous granuloma was the presenting feature of the PID in 15 of the 50 collated cases. The lesions presented as red-brownish nodules and infiltrated ulcerative plaques, predominantly on the face and limbs. Scleroderma-like infiltration on a single limb was observed in 10% of the cases. The associated PID was ataxia-telangiectasia (52%), combined immunodeficiency (24%), cartilage-hair hypoplasia (6%) and other subtypes (18%). The granulomas were mostly sarcoidal, tuberculoid, palisaded or undefined subtypes. In some patients, several different histopathologic granulomatous patterns were found in the same biopsy. Some granulomas were associated with the presence of a vaccine strain of rubella virus. CONCLUSION: Cutaneous granulomas associated with a PID have a variable clinical presentation. A PID can be suspected when crusty, brownish lesions are found on the face or limbs. The concomitant presence of several histological subtypes in a single patient is suggestive of a PID.

Fetal hydrometrocolpos and congenital imperforate hymen: Prenatal and postnatal imaging features.

Congenital imperforate hymen is probably the most common obstructive anomaly of the female reproductive tract. The accumulation of fluid in the genital tract leads to a distended uterus and vagina, causing hydrometrocolpos. Prenatal diagnosis of fetal hydrometrocolpos is uncommon, with only 22 cases reported in the literature and only a few cases of prenatal imaging of this condition available to date. The main ultrasound finding is a fetal pelvic mass posterior to the bladder and anterior to the rectum. We present the case of a 37-week female fetus with a fetal pelvic mass detected in a routine obstetric ultrasound examination, and the correlation between the prenatal and postnatal findings.

Giant fetal hydrometrocolpos associated with cloacal anomaly causing postnatal respiratory distress.

Persistent cloaca is a rare presentation wherein the urethra, vagina, and rectum converge into a common channel with a single perineal opening. Fetal hydrometrocolpos can result if fluid accumulates behind an obstruction of this common channel. A 29-year-old woman (G4P1021) was referred at 36 2/7 weeks of gestation for evaluation of a fetal abdominal cystic mass. Detailed ultrasonography and magnetic resonance imaging showed two symmetric cystic masses, bilateral hydronephrosis, and oligohydramnios. Elective cesarean delivery was performed at 37 0/7 weeks; the baby weighed 4043 g with Apgar scores of 5 and 6 at 1 and 5 min. Intubation was performed for respiratory distress, and the infant was noted to have an imperforate anus; persistent cloaca was diagnosed. Drainage of the hydrometrocolpos improved the infant's breathing remarkably, and extubation was achieved. This child's imaging findings are among the largest ever reported, and resulted in neonatal respiratory distress.

[A rare cause of hyponatraemia: McKittrick-Wheelock syndrome. Case report]. / A hyponatraemia ritka oka: McKittrick­Wheelock-szindróma.

Authors present a case of acute renal failure and hyponatraemia caused by a secretory tubulovillous adenoma of the colon, the rare so called McKittrick-Wheelock syndrome. A 75 year old woman was in need of treatment many times on medical wards because of watery diarrhoea, severe dehydration, hydroelectrolyte disturbance. The authors keep their case to be worthy to present, owing to the syndrome's rarity and difficulties of differential diagnosis. Orv Hetil. 2017; 158(18): 711-714.

A case report of a giant rectal adenoma causing secretory diarrhea and acute renal failure: McKittrick-Wheelock syndrome.

BACKGROUND: The McKittrick-Wheelock syndrome is a rare depletion syndrome caused by a secretory villous adenoma or a carcinoma of the rectosigmoid tract. An aggressive hydroelectrolyte rebalancing is often needed, and curative treatment is obtained only with complete removal of the lesion, by endoscopy or surgery. Low clinical suspicion often delays the diagnosis, resulting in detrimental complications. CASE PRESENTATION: We report the case of a 75-year-old woman, presenting to the emergency department with acute renal failure and electrolyte imbalance, reporting an history of recurrent episodes of dehydration and chronic diarrhea. After being admitted to the nephrology department she underwent diagnostic investigation that revealed the presence of a giant adenoma of the rectum. The patients received supportive therapy and was subsequently treated with surgery, with a favorable outcome. CONCLUSIONS: A prompt diagnosis plays an important role in the treatment of McKittrick-Wheelock syndrome. We describe a case of this condition in detail and review the related literature, underlining the typical diagnostic features and exploring the possible therapeutic options.

A Case of Obstructed Hemivagina with Ectopic Ureter Leading to Severe Hydrocolpos and Contralateral Renal Outflow Tract Obstruction in a Neonate.

BACKGROUND: Renal and Müllerian anomalies are frequently associated. Young age at presentation can present challenges in diagnosis and management. We report a case with an unusual presentation and management of this association in the neonatal period. CASE: A 2-day-old girl had hydronephrosis with a large pelvic fluid collection. Magnetic resonance imaging of the pelvis demonstrated right hydronephrosis and uterine didelphys with an obstructed left hemivagina with hydrocolpos. A tube vaginostomy was used to decompress the vagina. Fluid was consistent with urine from an ectopic ureteral implantation from a dysgenetic left kidney, which was removed. SUMMARY AND CONCLUSION: For obstructed hemivagina in a newborn, expanding fluid collections may be addressed with a drain to avoid mass effect and to aid in the diagnosis. Resection of the vaginal obstruction is performed when the patient is older. A nonfunctional kidney can be removed to eliminate fluid accumulation in the obstructed space.

Herlyn-Werner-Wunderlich syndrome: a very rare urogenital anomaly in a teenage girl.

BACKGROUND: Herlyn-Werner-Wunderlich (HWW) syndrome is an uncommon variant of Müllerian duct anomalies, consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents in a post-pubertal adolescent or adult woman in whom hematometrocolpos produces a pronounced mass effect and pain on the side of the obstructed hemivagina. CASE REPORT: We report the case of a 13-year-old girl who presented to the emergency radiology department with sudden onset of severe pain at the right lower quadrant of the abdomen; imaging confirmed the diagnosis of HWW syndrome. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: When unilateral renal agenesis and uterus didelphys coexist, the first thing that the physician should remember is to confirm or refute the presence of a blind vagina for diagnosis of HWW syndrome.

McKusick Kaufman syndrome, complications arising at puberty.

BACKGROUND: McKusick Kaufman Syndrome (MKS), a rare genetic condition, presents in the neonatal period with a classic triad of postaxial polydactyly, congenital heart disease, and hydrometrocolpos. The diagnosis is typically clinical, based on the presence of polydactyly and hydrometrocolpos. CASE: We report the case of a 13-year-old female, who was diagnosed with MKS in infancy and underwent vaginal reconstructive surgery for a urogenital sinus. She was lost to follow-up thereafter. She presented to our institution at age 13 with pyometra, pyosalpinx, and tubo-ovarian abscess due to a stenotic cervix obstructing menstrual outflow. SUMMARY AND CONCLUSION: Gynecologic follow-up is imperative in patients with history of vaginal reconstruction to monitor for hematometra from outflow obstruction to prevent life threatening secondary bacterial infections.

Enfrentamiento clínico del hidrocolpos a diferentes edades pediátricas / Clinical management of hydrocolpos at different pediatric ages

INTRODUCCIÓN Y OBJETIVOS: El hidro y/o hematocolpos es una condición patológica rara, de incidencia 1/16.000 niñas, que consiste en la dilatación de vagina y/o útero por material líquido o hemático. Sus diferentes formas de presentación y especialmente al grupo etario que afecta, puede ser un diagnostico no siempre fácil como también un manejo inadecuado puede determinar diferentes complicaciones de diversa gravedad. El objetivo de este trabajo es analizar los casos tratados en el servicio de urología pediátrica de acuerdo al grupo etario que correspondió su debut clínico. Material y métodos: Estudio retrospectivo de pacientes con diagnóstico de hidro o hematocolpos entre los años 2007 y 2011. Se analizan datos demográficos, patologías asociadas, tratamiento y complicaciones. Resultados: Se analizaron 8 niñas, todas con ambigüedad genital al nacer, 7 con hiperplasia suprarrenal congénita. En 6 pacientes se realiza examen endoscópico bajo anestesia general que confirma la presencia de un seno urogenital (SUG) a una edad promedio de 36 meses (r 3m-12a). La edad promedio de presentación del hidrocolpos fue de 6 años (r 1m - 14 a) con un peak entre los 0-2 años y a los 11-14 años, diagnóstico confirmado mediante ecografía. Otras patologías asociadas fueron: cardiopatía congénita (1) e ITU recurrente (5). Una paciente presentó una sobreinfección del hidrocolpos con shock séptico asociado. En dos pacientes (11 y 14 años) se ha realizado el descenso en bloque, 3 pacientes se drena el hidrocolpos por vía endoscópica (cistoscopía). Conclusiones: El hidrocolpos es una patología rara, pero que se debe tener presente especialmente en diagnostico prenatal y/o recién nacidos que se estudian por masa pelviana y/o abdominal, en pacientes con SUG; ya que su detección precoz y tratamiento pueden evitar consecuencias graves como shock séptico de origen uroginecológico.

INTRODUCTION AND OBJECTIVES: hydro and / or hematocolpos are a rare pathological condition, incidence 1/16.000 girls, which involves dilation of vagina and / or uterus with hematic fluid or material. Due to its different forms of presentation and especially the affected age group, diagnosis may not always be easy as improper Management can determine different complications of varying severity. The aim of this paper is to analyze the cases treated in our pediatric urology service according to age group of clinical debut. Material and methods: Retrospective study of patients diagnosed with hydro or hematocolpos between 2007 and 2011. Demographics, co morbidities, treatment and complications were analyzed. Results: 8 girls, all with ambiguous genitalia at birth, 7 with congenital adrenal hyperplasia were analyzed. In 6 patients endoscopic examination performed under general anesthesia confirmed the presence of a urogenital sinus (SUG) at an average age of 36 months (r 3m-12a). The average age of hydrocolpos presentation was 6 years (r 1m - 14) with a peak between 0-2 years and 11-14 years, confirmed by ultrasound diagnosis. Other associated diseases were: congenital heart disease (1) and recurrent UTI (5). One patient had a superinfection of hydrocolpos associated with septic shock. In two patients (11 and 14y.o.) an “en bloc” descent was performed, in 3 patients the hydrocolpos was drained endoscopically (cystoscopy). Conclusiones: hydrocolpos is a rare condition, but it must be especially considered in prenatal diagnosis and / or infants studied by pelvic and / or abdominal mass, in patients with SUG, as early detection and treatment can prevent serious consequences as septic shock of urogynecological origin.

Prenatal diagnosis of anterior sacral meningocele.

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.

Gynecologic concerns in patients with anorectal malformations.

Children with anorectal malformations (ARMs) constitute a significant group within a pediatric surgery practice. In females, the most common ARM is an imperforate anus with a rectovestibular fistula, followed by an imperforate anus with a rectoperineal fistula and then cloacal anomalies. Some malformations, such as an imperforate anus with a rectovestibular fistula, may seem straightforward, treated with a posterior sagittal anorectoplasty; however, it is vital to recognize the association with gynecologic anomalies. Girls with the most complex anorectal defect, cloacal malformation, have significant associated urological and gynecologic anomalies, which should be recognized and treated. An opportunity to diagnose and treat such anomalies may be missed in the newborn period or at the definitive surgery, unless the pediatric surgeon is aware of this association. With the knowledge of the associated anomalies and long-term sequelae, surgeons can provide better care for girls and important counseling for parents. Important gynecologic issues to consider may be divided into several categories, such as infancy, puberty, sexual intimacy, and obstetrical concerns. Knowledge of reproductive-related issues in females with ARMs allows the pediatric surgeon and their gynecology colleagues to provide optimal surgical management throughout infancy, childhood, and into young adulthood. Appropriate counseling for patients and families about potential reproductive concerns that may develop many years after the definitive surgical repair allows preparation and planning to preserve future fertility.

Imperforate hymen and urinary retention in a newborn girl.

Urinary retention is relatively rare in infants,especially in girls. Imperforate hymen is the most frequent congenital malformation of the female genital tract and is usually asymptomatic until puberty. Mucocolpos with an abdominal mass in neonatal age is extremely rare. We report a case of a 20-day-old newborn girl with acute urinary retention due to isolated imperforate hymen and mucocolpos.

Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome.

We present a preterm-born girl with polydactyly of both hands and massive hydrometrocolpos, the latter due to vaginal atresia. This association led initially to the diagnosis of McKusick-Kaufman syndrome (MKKS). However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic tumour, presumably a hamartoma, favoured the diagnosis of Pallister-Hall syndrome (PHS), which was then genetically confirmed by detection of a GLI3 mutation (Q717X). This is the second genetically confirmed case revealing the previously described association of PHS with hydrometrocolpos due to vaginal atresia as a clinical overlap with MKKS.

Prenatal ultrasonographic features of persistent urogenital sinus with hydrometrocolpos and ascites.

OBJECTIVE: Hydrometrocolpos is a rare congenital disorder very rarely reported on prenatal sonography. In this study we report a persistent urogenital sinus with hydrometrocolpos and ascites at 24 weeks of gestation. CASE: Detailed ultrasonographic examination revealed female fetus with pelvic mass measured as 60 x 70 x 80 mm, anterior to sacral bone and inferior to bladder, and ascites, ureterocele, hydroureter, hydronephrosis but normal amniotic fluid. Further examination showed that cervical canal and uterine cavity was in continuation with the pelvic mass and dilatation of uterine tubes implicated hydrometrocolpos. Physical examination of the neonate revealed a single anterior opening at perineum and a patent anus but no visible urethral orifice. A voiding cystourethrogram demonstrated a urethrovaginal fistula. The neonate underwent ureteroneoostomy and was discharged on day 10 for follow-up and final repair. CONCLUSION: Prenatal ultrasonographic diagnosis of hydrometrocolpos in our case prevented unnecessary interventions and allowed early neonatal treatment.

Squamous cell peritonitis associated with hydrometrocolpos in a multimalformed newborn.

We present the case of a 1 day-old newborn with extensive squamous cell peritonitis resulting from vaginal atresia with hydrometrocolpos and squamous cell reflux through the genital system, a combination rarely recognized in the literature. Delivery was preceded by ultrasound diagnosis of oligohydramnios and "large bladder," the latter representing the dilated proximal vagina. Additional findings included paraesophageal hiatus hernia containing squames, urethral atresia, absence of vulva, lung hypoplasia, mild hypoplasia of the corpus callosum, and short umbilical cord with single umbilical artery (SUA). The possible relationship of the SUA with the constellation of infradiaphragmatic malformations is discussed.