Óbitos pós-cirúrgicos em neonatos com malformações congênitas do aparelho digestivo ou osteomuscular / Post-surgical deaths in neonates with congenital malformations in the digestive or musculoskeletal systems / Muertes post-quirúrgicas en neonatos con malformaciones congénitas digestivas o musculoesqueléticas

Objetivo: Analisar a ocorrência de óbitos pós-cirúrgicos em recém-nascidos com malformação do aparelho digestivo ou osteomuscular em uma maternidade de referência. Método: Estudo exploratório, retrospectivo, de abordagem quantitativa, realizado em uma maternidade de referência localizada em Teresina ­ PI. Os dados foram coletados do Tabwin e de fichas de investigação de óbito infantil de neonatos nascidos em 2016 e 2017 e analisados no software Statistical Package for the Social Sciences. Resultados: O tipo de malformação mais prevalente do aparelho digestivo e osteomuscular entre os neonatos que foram a óbito após cirurgia foi o ânus imperfurado (41%) e a gastrosquise (64,2%), respectivamente. O choque séptico, seguido da insuficiência renal aguda foram os fatores determinantes dos óbitos analisados. Conclusão: O diagnóstico precoce é o fator primordial para redução da morbimortalidade de neonatos acometidos por malformações congênitas, uma vez que contribui para o direcionamento e planejamento dos cuidados imprescindíveis a esses pacientes

Objective: To analyze the occurrence of post-surgical deaths in newborns with malformation in the digestive or musculoskeletal systems in a reference maternity hospital. Method: This is an exploratory and retrospective study, with a quantitative approach, conducted in a reference maternity located in Teresina ­ PI. Data were collected from Tabwin and infant death investigation forms of neonates born in 2016 and 2017 and analyzed through the Statistical Package for the Social Sciences software. Results: The most prevalent type of malformation of the digestive and musculoskeletal systems among neonates who died after surgery was the imperforate anus (41%) and gastroschisis (64.2%), respectively. Septic shock, followed by acute kidney failure, constituted the determining factors of the analyzed deaths. Conclusion: Early diagnosis is the key factor for reducing morbidity and mortality in neonates affected by congenital malformations, as it contributes to the targeting and planning of care actions essential for these patients

Objetivo: Analizar la ocurrencia de muertes post-quirúrgicas en recién nacidos con malformación digestiva o musculoesquelética en una maternidad de referencia. Método: Estudio exploratorio, retrospectivo, con enfoque cuantitativo, realizado en una maternidad de referencia ubicada en Teresina - PI. Los datos se recopilaron de Tabwin y de registros de investigación de muerte infantil de neonatos en 2016 y 2017 y se analizaron utilizando el programa Statistical Package for the Social Sciences. Resultados: El tipo de malformación digestiva y musculoesquelética más frecuente entre los neonatos que murieron después de la cirugía fue el ano imperforado (41%) y la gastrosquisis (64,2%), respectivamente. El shock séptico, seguido de insuficiencia renal aguda, constituyeron los factores determinantes de las muertes analizadas. Conclusión: El diagnóstico temprano es el factor principal para reducir la morbimortalidad en los neonatos afectados por malformaciones congénitas, ya que contribuye a la dirección y planificación de la atención esencial para estos pacientes

Deficiência de hormônio de crescimento em um paciente com síndrome de VACTERL / Growth hormone deficiency in a patient with VACTERL syndrome

A Síndrome de VACTERL é um conjunto de malformações congênitas, que necessita para o diagnóstico pelo menos três das seguintes alterações: malformações vertebrais, atresia anal, anomalias cardiovasculares, fístula traqueoesofágica, atresia esofágica, malformações renais e displasia dos membros. É relatado caso de paciente com Síndrome de VACTERL e deficiência de hormônio de crescimento. A revisão da literatura aborda uma possível associação entre esses dois diagnósticos clínicos (AU)

The VACTERL syndrome is a set of congenital malformations, which requires at least three of the following changes to be diagnosed: vertebral defects, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal malformations and dysplasia of the limbs. Here we report the case of a patient with VACTERL syndrome and deficiency of growth hormone. A literature review discusses the possible association between these two clinical diagnoses (AU)

Epididymitis in Patients with Anorectal Malformations: A Cause for Urologic Concern

Introduction Epididymitis in patients with anorectal malformation (ARM) represents a unique problem because unlike the general population, an underlying urinary tract problem is frequently identified. We review our experience with epididymitis in ARM population with an emphasis on examining urologic outcomes. Materials and Methods We performed a retrospective review of male patients with ARM cared for from 1980 to 2010. Clinical and pathologic variables recorded included age at presentation, recurrence, associated urologic anomalies, incidence of ureteral fusion with mesonephric ductal structures, glomerular filtration rate and urodynamic parameters. Results Twenty-six patients were identified with documented episodes of epididymitis. Renal injury was noted in five patients (19%), all of whom were diagnosed with neurogenic bladder (NGB) several years after anorectoplasty. NGB was found in ten patients (38%) in our series. Ectopic insertion of ureter into a mesonephric ductal structure was discovered in five patients (19%). Twelve patients (46%) had recurrent episodes of epididymitis, with seven of these patients (58%) being diagnosed with NGB. Two patients in the pubertal group presented with a history of epididymitis and complained of ejaculatory pain. Conclusion Epididymitis in a patient with ARM warrants a comprehensive urologic investigation, particularly in recurrent episodes. Attempts at surgical intervention (e.g. vasectomy) should be avoided until functional assessment of the urinary tract has occurred. Failure to recognize this association may lead to potentially avoidable complications and morbidity. Long term urological follow up of these patients is warranted to identify at risk patients and minimize renal deterioration .

A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report / Caso raro de hamartoma perineal associado a criptorquidia e ânus imperfurado: relato de caso

A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.

Recém-nascido a termo do sexo masculino encaminhado ao nosso serviço por anomalia anorretal e anomalias perineais externas. O exame físico revelou massa perineal epitelizada, com orifícios cutâneos que apresentavam saída de urina, musculatura perineal hipotrófica, pé torto congênito bilateral, uretra hipospádica, criptorquidia bilateral com testículos não palpáveis e ânus imperfurado. Logo após o nascimento, o paciente foi submetido à colostomia. Aos 3 meses de idade, a criança foi submetida à excisão da massa perineal, orquidopexia bilateral, neouretroplastia a Duplay e anastomose coloanal. A análise anatomopatológica da massa perineal indicou hamartoma.

Wind sock deformity in rectal atresia

Rectal atresia is a rare anorectal deformity. It usually presents with neonatal obstruction and it is often a complete membrane or severe stenosis. Windsock deformity has not been reported in rectal atresia especially, having been missed for 2 years. A 2-year-old girl reported only a severe constipation despite having a 1.5-cm anal canal in rectal examination with scanty discharge. She underwent loop colostomy and loopogram, which showed a wind sock deformity of rectum with mega colon. The patient underwent abdominoperineal pull-through with good result and follow-up. This is the first case of the wind sock deformity in rectal atresia being reported after 2 years of age

Townes-Brocks syndrome with hypothyroidism.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Hypothyroidism is not a recognized feature of TBS. We are reporting a case of TBS with hypothyroidism, a rare association.

Occult neurovesical dysfunction with anorectal malformations.

OBJECTIVE: To evaluate for the occurrence of occult NVD in children with anorectal malformations (ARM) using urodynamic evaluation. METHODS: This prospective study was carried out on children with ARM prior to and following definitive procedure. Urodynamic studies were performed on the Phoenix Griffon machine (Albyn Medical) using Phoenix plus software. RESULT: Nineteen children in the age range of 3 months to 156 months (mean = 19.2) were included in this study. Among these 19 children 13 underwent re-evaluation after definitive surgery for ARM. There were 11(57.9%) males and 8(42.1%) females. Of the 19 children 14 (73.7%) were cases of high anorectal malformation (HARM) and 5 (26.3%) were cases of low anorectal malformation (LARM). Baseline evaluation done in 19 children revealed seven urodynamic patterns: Normal capacity, compliant without uninhibited contractions (UIC) (21.1%); Normal capacity, compliant with UIC (5.3%); Normal capacity, poorly compliant without UIC (5.3%); Normal capacity, poorly compliant with UIC (10.5%); small capacity, compliant with UIC (5.3%); Small capacity, poorly compliant with UIC (26.3%) and large capacity, complaint with UIC (26.3%). Thirteen patients were evaluated post operatively also and in only 23% (3 of 13) no change in urodynamic pattern were observed. In the remaining 76.9% (10 of 13) some changes in urodynamics pattern were observed. The deleterious changes observed were appearance of UIC in 30.8% (4 of 13), decrease in the bladder capacity in 23% (3 of 13) and decrease in bladder compliance in 15.4% (2 of 13). CONCLUSION: Only 9 of of the 19 patients had normal urodynamics pre-operatively and post-operatively 3 more patients worsened. Incidence of occult NVD is high in patients with ARM even in the absence of clinical and radiological evidence of vertebral or lower urinary tract abnormalities. Though there seems to be a high incidence of changes in the neurovesical functions of these patients following definitive corrective surgery for ARM only time will show whether this has any deleterious effect on the upper tracts.

VACTERL association with Prune-Belly syndrome.

We report a term, small for gestational age neonate having full spectrum of VACTERL association. In addition, the neonate also had triad of signs and symptoms associated with prune belly syndrome. The concurrence of these two syndromes could lie in their common etiology of defect in mesodermal differentiation. Such a combination is extremely rare and is generally incompatible with life.

A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition

"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental and growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. Here we report a case of del(13)(q22) with multiple major congenital anomalies for the first time in Korea. The patient was born at 36+4 weeks of pregnancy by caesarian section. Birth weight was 1490g. On examination the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). Neurocranial ultrasonography showed atrophy of the corpus callosum and multiple calcifications. He died at 14 days. Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studies was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from peripheral blood lymphocytes.

Repercusiones urológicas de la malformación anorrectal alta / Urological repercussions of high anorectal anomaly

Se revisaron los casos de 64 pacientes con diagnóstico de malformación anorrectal alta con el fin de identifiar la incidencia y los tipos de malformaciones urológicas que acompañan, así como su diagnóstico y tratamiento, ademas de las repercusiones en el curso clínico de los mismos. Se encontró que 42 por ciento presentaban una o más de estas malformaciones, y que destacaban el reflujo vesicoureteral (55 por ciento), la vejiga neurogénica (25.9 por ciento) y la agenesia renal (18.5 por ciento). El diagnóstico oportuno fue realizado en menos de mitad en 60 por ciento de los casos. Fueron cinco en promedio las operaciones por paciente para su reconstrución. Cinco pacientes desarrollaron insuficiencia renal crónica. Se concluye que las malformaciones urológicas acompañantes representan una causa significativa de morbimortalidad. Se recomiendan la realización de ultrasonido renal y uretrocistograma en forma oportuna y la atención de estos pacientes en un centro especializado.

Las malformaciones urogenitales asociadas a imperforación anal / Urogenital abnormalities associated with anal imperforation

Se analizan 81 casos de imperforación anal (IA) atendidos en el período 1971 a 1988. 45 casos corresponden a varones y 36 a mujeres. Los tipos de IA se distribuyeron: Altas 38,3%, Intermedias 6,2% y Bajas 55,5%. La fístula rectourinaria se asocia a IA Alta en un 82,6% y a IA Intermedia en un 40%, no observándose ningún caso en IA Baja. Las malformaciones urinarias tuvieron una incidencia global del 36,6% y el 81% correspondió a IA Altas. La hidroureteronefrosis, el megaureter y el reflujo vesicoureteral fueron las patologías más frecuentemente encontradas. La hipospadia fue la patología genital más constante. La infección urinaria se observó en el 26% de los casos y fue más frecuente en IA Altas con fístula rectourinaria más una malformación urinaria asociada

Frecuencia y factores de riesgo de las malformaciones congénitas en la maternidad "German Urquidi" 1982-1983 / Frequency and risk factors for congenital malformations at the Obstetric Hospital German Urquidi

Se realiza un estudio epidemiológico prospectivo de malformaciones congénitas en la MGU de Cochabamba, sobre un total de 7409 nacidos vivos y muertos ocurridos en 24 meses desde el 1o de enero de 1982 hasta el 31 de diciembre de 1983, observandose una frecuencia de 62 por diez mil nacimientos, siendo las más frecuentes las malformaciones del Sistema Nervioso Central 11 (14.8 por ciento) seguidas de labio leporino 7 (9.4 por ciento), ano imperforado 6(8.0 por ciento) y pie contrahecho 5(6.7 por ciento): con estas cuatro malformaciones se realiza un enfoque de cohorte para cuatro factores de riesgo, encontrandose una mayor frecuencia de malformaciones en los recien nacidos de bajo peso (- 2500 gr.). Finalmente se hace incapie en la importancia de contar con un sistema de registro de malformaciones congenitas, que tenga una cobertura amplia de ser posible nacional e internacional para asi llegar a detectar picos epidemiologicos en la frecuencia de las malformaciones, resultando entonces facil una investigacion etiologica posterior.