Síndrome de McKittrick-Wheelock: una causa infrecuente de hipokalemia e injuria renal aguda. Caso clínico / McKrittick-Wheelock syndrome: report of one case

McKittrick-Wheelock syndrome is caused by chronic water and electrolyte hypersecretion from an intestinal tumor, usually a villous adenoma, located in the rectum or sigmoid. Patients often have dehydration, hypovolemic shock and kidney failure associated with hypokalemia, hyponatremia, hypochloremia and metabolic acidosis. We report a 62-year-old male, suffering chronic diarrhea for eight years who was admitted after a syncope. He had severe hypokalemia, hyponatremia, metabolic acidosis, hypovolemia and acute renal failure. After his metabolic disorders were corrected, a colonoscopy showed a large rectosigmoid tumor with the characteristics of a villous adenoma. During the follow up after the complete tumor resection, the patient has remained asymptomatic.

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

ABSTRACT Main findings: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinary team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.

Congenital Hydrocolpos Mimicking a Mature Cystic Teratoma in the Pelvis

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.

Casos clínicos: hidrocolpos secundario a reflujo vesicovaginal / Hydrocolpos caused by vesicovaginal reflux

The presence of fluid in the vaginal cavity, hydrocolpos, is uncommon to see during a pelvic ultrasound. The causes can be obstructives or not, like de vesicovaginal reflux (VVR). Objective: Report a case and the differential diagnosis of a hydrocolps in a teenage girl during a pelvic ultrasound. Case: A 13 yo girl, obese, Tanner III of pubertal development in a study for primary amenorrhea. The ultrasound shows a vaginal collection that disappeared after voiding. Non obstructive cause was confirmed with MRI. Conclusions: The pelvic ultrasound evaluation of a hydocolpos must be done with full bladder follow by a postvoid study to rule out a hydrocolpos ocurring without anatomical obstruction, which the VVR it is the most probable cause...(AU)

Introducción: La distensión de la vagina por acumulación de líquido en su interior, hidrocolpos, es un hallazgo infrecuente durante la realización de una ultrasonografía ginecológica pelviana (USG). Puede deberse a causas obstructivas y no obstructivas, dentro de las cuales se encuentra el reflujo vesico vaginal (RVV).Objetivo: Reportar el hallazgo e interpretación de un hidrocolpos en una adolescente durante la realización de USG ginecológica pelviana. Caso Clínico: En el estudio por amenorrea primaria y dolor pelviano de una adolescente obesa de 13 años, estadio Tanner III se pesquisa en el USG pelviano un hidrocolpos. Se repite evaluación post miccional, desapareciendo la colección. Mediante RNM se descarta malformación genital obstructiva. Conclusión: La evaluación ultrasonográfica de un hidrocolpos, debe realizarse con vejiga llena y luego vacía para descartar una causa no obstructiva en cuyo caso la etiología más probable es el RVV...

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.

Hidrocolpos e hidrometrocolpos neoanatal: a propósito de un caso clínico / Neonatal hydrocolpos and hydrometrocolpos: a clinical case

Hydrocolpos and hydrometrocolpos is a condition characterized by a cystic dilatation od the vagina and/or uterus with accumulation of fluid as a result of congenital vaginal obstructions. It can be of secretory or urinary types, the last one when a vagino-vesical communication develops such as a sinus or chloaca. Other causes are vaginal septum, imperforated hymen. Clinical Case: Ten day old newborn, 46 XX with genital virilization (Prader IV) confirmed as due to Congenital Adrenal Hyperplasia, sonogram showed dilated vagina with fluid content due to neonatal hydrocolpos. Conclusion: It is important to maintain a high index of suspicion when a female newborn shows urogenital sinus, chloaca, genital virilization or imperforated hymen, as well as a female newborn with an abdominal mass. Diagnostic test of choice is a sonogram. Evaluation must be completed by a multidisciplinary team, including urology, endocrinology and pediatric gynecology for optimal patient management.

El Hidrocolpos e Hidrometrocolpos es una condición caracterizada por dilatación quística de la vagina y/o del útero, con acumulación de líquido como resultado de obstrucciones vaginales congénitas. Puede ser de tipo secretorio o urinario, este último ocurre cuando existe comunicación vagino-vesical, como en el seno urogenital o anomalía tipo cloaca. Otras causas son septo vaginal, himen imperforado, malformación tipo cloaca y senourogenital. Caso: Recién nacida de 10 días, 46 XX, con virilización de genitales grado IV de Prader, cuyo estudio confirmó una Hiperplasia Suprarrenal Congénita y cuya ecografía demostró una vagina dilatada con contenido liquido correspondiendo a un hidrocolpos neonatal.

Clinical experience with persistent cloaca / 대한외과학회지

PURPOSE: Persistent cloaca is one of the most severe types of anorectal malformation. Appropriate initial drainage is difficult due to their various malformations and hydrocolpos or dilated urinary bladder. Corrective surgery also differs among individual patients. We describe our experiences with the surgical management of children with persistent cloaca. METHODS: We retrospectively reviewed 16 children diagnosed with persistent cloaca at Asan Medical Center. RESULTS: Sixteen patients were managed in their neonatal period. Twelve patients had enlarged bladder or vagina at birth. Three patients, who did not undergo cystostomy or vaginostomy at first operation, had earlier complications after surgery or required drainage tube insertion. One patient who did not undergo hydrocolpos drainage died of sepsis and complications. Nine patients underwent corrective surgery; posterior sagittal anorectovaginourethroplasty using the Pena method. Three patients required additional operations due to complications after surgery. CONCLUSION: Patients found to have anatomical malformations before colostomy, as well as hydrocolpos and bladder enlargement, require a vaginostomy with or without a cystostomy to reduce complications. Follow-up is required in patients with hydrocolpos and bladder enlargement to determine whether vaginal drainage improves dilated bladder. Continuous long-term follow-up examination is required to determine the long-term results of corrective surgery.

A case of McKusick-Kaufman syndrome / 소아과

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.

Volumoso hidrocolpo em neonato: relato de caso / Newborn hydrocolpos secondary to congenital imperforate hymen: a case report

Os autores relatam um caso de hímen imperfurado congênito determinando volumoso hidrocolpo em recém-nascido. Esta anomalia é uma condição rara, pois a maioria dos casos de hímen imperfurado é diagnosticada na fase pré-púbere com o atraso da menarca. O objetivo deste relato é demonstrar os achados ultrassonográficos do hidrocolpo no recém-nato e realizar uma breve revisão de literatura sobre o assunto. É de fundamental importância nestes pacientes o rastreamento de outras malformações congênitas que podem estar associadas ao quadro.

The authors report a case of newborn hydrocolpos secondary to congenital imperforate hymen. This anomaly is a rare condition, since most cases of imperforate hymen are diagnosed in the prepubertal period with the delay of menarche. The objective of this report is to demonstrate ultrasound findings of newborn hydrocolpos and make a review of literature about it. It is vital to search other congenital malformations that may be associated.

Hidrometrocolpos: presentación de un caso / Hydrometrocolpos: presentation of a Case

El hidrometrocolpos es una obstrucción a nivel del tracto genital femenino, que aparece en la etapa neonatal como una masa en hemiabdomen inferior, por encima de la sínfisis del pubis. Presentamos recién nacida pretérmino, con edad gestacional de 33,4 semanas por método de Capurro, producto de parto eutócico, apgar 2/5, peso 1954 gr, que presenta masa abdominal constatada durante la reanimación cardiopulmonar realizada inmediatamente después del nacimiento. Al examen físico posterior se observa la presencia de gran aumento de volumen en región perineal que afecta los genitales externos, borramiento del pliegue interglúteo, e himen imperforado. Durante el estudio se constata riñón poliquístico del lado derecho e hidronefrosis severa del lado izquierdo, así como gran masa intrabdominal de contenido líquido. Se plantea el diagnóstico de hidrometrocolpos y se procede a la realización de intervención quirúrgica que consistió en perforación del himen, obteniéndose la salida de aproximadamente 200ml de líquido procedente de la vagina. Después de lo cual se produce la regresión de las estructuras anatómicas paulatinamente.

The hydrometrocolpos is an obstruction at the level of female genital tract that appears during the neonatal stage as a mass in the lower hemi abdomen, over the synphisis of the pubis. It is presented a 33, 4-weeks-gestational-newborn girl, by means of Bud method, due to a euthocic birth, apgar 5/2, and weight 1954gr, who has an abdominal mass noted during the Cardiopulmonar reanimation made immediately after her birth. In the later physical exam it is observed the presence of a great increasement of volume in the perineal area that affects the external genitals, erasing of the intergluteal fold, imperforated hymen. During this study it is also noted polycystic kidney disease in the right side and a sever hydronephrohydrosis in the left side, as well as a great intra-abdominal mass with a liquid content. The diagnosis of hydrometrocolpus is posed and then a surgery is made to pierce the hymen, obtaining the outlet of 200ml of liquid approximately, coming from the vagina. After this, the regression of the anatomical structures is gradually produced.

Hydrometrocolpos due to persistent urogenital sinus mimicking neonatal ascites

A urogenital sinus is a common channel into which both the urethra and genital tracts open. Occasionally there might be transverse obstructing membrane leading to hydrometrocolpos from either uterine secretions or urine. Although the presentation is varied, a neonatal presentation of a large hydrometrocolpos mimicking gross ascites is rare. A 3-day-old female infant was referred to us from periphery as a case of gross ascites of unknown cause. Patient was having rapid and shallow breathing and had gross ascites. The patient was evaluated and was diagnosed to have large hydrometrocolpos. To avoid unnecessary delay in diagnosis and proper treatment the possibility of hydrometrocolpos secondary to urogenital sinus presenting as generalized abdominal distension should be kept in mind. A focused genital examination can help achieve the diagnosis

Gene Expression Modulation in Rat Skeletal Muscle by Denervation-induced Atrophy / 대한정형외과연구학회지

PURPOSE: To understand the modulation of genes by atrophy, differential expression of genes in normal and denervated skeletal muscle was investigated by DNA chip technology. MATERIALS AND METHODS: Sciatic nerve and femoral nerve were resected in right leg of rat to make the muscle atrophy model. Muscle tissues from the gastrocnemius of normal and denervated legs were homogenized and RNA were extracted. Dyes were labelled during reverse transcription and hybridization was done into the DNA chip which is consisted of about 5,000 probes. RESULTS: By statistical analysis, 39 genes were selected as differentially expressed genes by atrophy. 15 known genes up-regulated by atrophy were genes related to immune response, extracellular matrix, andsignal transduction in plasma membrane. 7 known genes down-regulated by atrophy were genes related to cell growth and proliferation, intracellular signal transduction, and energy metabolism. Some unknown gene functions were analysed by bioinformatics analysis and they were highly homologous genes with McKusick-Kaufman syndrome protein, ADP-ribosylation factor-like 4, and component X of pyruvate dehydrogenase complex. CONCLUSION: These results suggest that reduction of energy metabolism, activation of cholesterol exclusion, and changes on signal transduction pathway are involved in the process of atrophy by denervation in skeletal muscle of rat.

Thin Glomerular Basement Membrane Disease with Herlyn-Werner-Wunderlich Syndrome: Uterus Didelphys, Blind Hemivagina and Ipsilateral Renal Agenesis

Herlyn-Werner-Wunderlich syndrome(HWWs) is a rare variant of Mullerian ductal anomalies characterized by the presence of a hemivaginal septum, a didelphic uterus, and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain, and palpable mass due to hemihematocolpos. If a cystic mass is detected behind the urinary bladder in children, in association with the absence of a kidney, the diagnosis of uterus didelphys with imperforate vagina and hydrocolpos should be considered. When renal agenesis is found in asymptomatic children, the small size and the tubular shape of the uterus makes it almost impossible to evaluate uterine anomalies, so follow-up should be performed until the end of puberty. Appropriate preoperative diagnosis and treatment will prevent unnecessary procedures and offer relief of symptoms. We report one case of didelphic uterus with blind hemivagina and ipsilateral renal agenesis with biopsy-proven thin glomerular basement membrane disease which is not related to the above syndrome.

Hidrocolpo por ectopia ureteral em hemivagina associado a displasia renal: relato de caso e revisão da literatura / Congenital hydrocolpos due to ectopic ureter in hemivagina associated with renal dysplasia: a case report and review of the literature

Os autores apresentam um caso de displasia renal associada a ectopia ureteral vaginal homolateral, com uretero-hidronefrose contralateral devida a compressão por hidrocolpo causado pela ectopia e por um septo vaginal oblíquo. Os exames de imagem utilizados foram urografia excretora, cistografia, ultra-sonografia, tomografia computadorizada e cintilografia renal com Tc-99m-DMSA. Foi realizada revisão da literatura sobre casos de hidrocolpo associado a malformações urinárias.

The authors report a case of congenital hydrocolpos due to vaginal malformation (vaginal septae) associated with ectopic ureter and renal displasia. Several imaging diagnostic procedures (ultrasonography, nuclear medicine, intravenous urography and computed tomography) were performed. A review of the literature on hydrocolpos and its association with urinary malformations is also presented

A Case of Persistent Cloaca Diagnosed by Prenatal Sonography / 대한산부인과학회잡지

Persistent cloaca is a very rare congenital anomaly with a single common perineal opening for the genital urinary and gastrointestinal tract, which is caused by abnormal formation of the urorectal septum. It has an incidence of 1 in 50,000 to 1 in 125,000 births and is much more common in females and in twin pregnancies. Pathologic findings of persistent cloaca include dilated bowel, hydrocolpos, urethral obstruction, hydronephrosis and oligohydramnios caused by obstruction of the bladder, vagina and intestine. Failure of the paired m llerian ducts to fuse also usually results in duplication of the uterus and vagina. Currently, the diagnosis depends on the prenatal sonography but the diagnosis may be very difficult due to the complex nature of the anomaly and variable appearances. We present a case of persistent cloaca with one opening confirmed by autopsy after therapeutic termination which was initially diagnosed by prenatal sonography.

A Case of Persistent Cloaca with Hydrocolpos / 대한산부인과학회잡지

Persistent cloaca is a very rare congenital anomaly with a single common perineal opening for the genital, urinary and gastrointestinal tracts, which arises from defects in the embryonal process of descent of urorectal septum or fusion to cloacal membrane. Anomalies associated with persistent cloaca are found in the upper urinary tract, gastrointestinal tract, cardiovascular system, central nervous system and respiratory system, which are not easily detected through ultrasound during pregnancy. It has been reported that if those anomalies are diagnosed early, they can be corrected surgically. We present a case of persistent cloaca with hydrocolpos confirmed by autopsy after emergency cesarean section which was initially presented as a huge abdominal cystic mass and bilateral hydronephrosis by ultrasound at 34 weeks of gestation.

Prenatal Sonographic Finding of A Case of Hydrometrocolpos / 대한산부인과학회잡지

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.

A Case of Neonatal Hydrocolpos due to Vaginal Atresia

A 37-week gestation female neonatal infant presented with lower abdominal distension. Ultrasonography showed a hydrocolpos, measuring 8.3 cm x 6.9 cm x 6.1 cm in size and on perineal examination, vaginal atresia was noticed. On a follow-up ultrasonography performed 41 days after aspiration, the hydrocolpos was enlarged to 10 cm x 8 cm x 7 cm in size, and compressed adjacent small bowel significantly with concomitant bilateral hydronephrosis. Temporary tubed vaginostomy was carried out with the provision of excellent drainage and easy access for contrast studies to outline the pathologic anatomy. We are planning to perform vaginal reconstructive surgery on her age around 2 years, when her vaginal structure might grow sufficiently for reconstructive surgery.