Diferencias en la duración del reflejo rectoanal inhibitorio en pacientes con constipación funcional refractaria y mielomeningocele / Differences in rectoanal inhibitory reflex duration between patients with refractory functional constipation and myelomeningocele

Introducción. Habitualmente, durante la manometría anorrectal, en lo correspondiente al reflejo rectoanal inhibitorio (RRAI) solo se pesquisa su presencia o ausencia. Estudios han reportado que su análisis detallado puede brindar datos de interés. Nuestra hipótesis es que la medición del RRAI puede dar información para reconocer causas orgánicas (médula anclada, lipoma, etc.) en pacientes en los que previamente se consideró como de causa funcional. Objetivos. Comparar la duración del reflejo rectoanal inhibitorio en la manometría anorrectal de pacientes con constipación funcional refractaria (CFR) y mielomeningocele (MMC). Población y métodos. Estudio observacional, transversal, analítico (2004-2019). Pacientes constipados crónicos con incontinencia fecal funcional y orgánica (mielomeningocele). Se les realizó manometría anorrectal con sistema de perfusión de agua y se midió la duración del RRAI con diferentes volúmenes (20, 40 y 60 cc). Grupo 1 (G1): 81 CFR. Grupo 2 (G2): 54 MMC. Se excluyeron pacientes con retraso madurativo, esfínter anal complaciente, agenesia sacra y aquellos no colaboradores. Resultados. Se incluyeron 135 sujetos (62 varones). La mediana de edad fue G1:9,57 años; G2: 9,63 años. Duración promedio G1 vs. G2 con 20 cc: 8,89 vs. 15,21 segundos; con 40 cc: 11.41 vs. 21,12 segundos; con 60 cc: 14,15 vs. 26,02 segundos. La diferencia de duración del RRAI entre ambos grupos con diferentes volúmenes fue estadísticamente significativa (p = 0,0001). Conclusión. La duración del RRAI aumenta a mayor volumen de insuflación del balón en ambas poblaciones. Pacientes con MMC tuvieron mayor duración del RRAI que aquellos con CFR. En los pacientes con RRAI prolongado, debe descartarse lesión medular.

Introduction. Usually, during anorectal manometry, only the presence or absence of rectoanal inhibitory reflex (RAIR) is investigated. Studies have reported that a detailed analysis may provide data of interest. Our hypothesis is that RAIR measurement may provide information to detect organic causes (tethered cord, lipoma, etc.) in patients in whom a functional cause had been previously considered. Objectives. To compare RAIR duration in anorectal manometry between patients with refractory functional constipation (RFC) and myelomeningocele (MMC). Population and methods. Observational, analytical, cross-sectional study (2004­2019). Patients with chronic constipation and functional and organic fecal incontinence (myelomeningocele). The anorectal manometry was performed with a water-perfused system, and the duration of RAIR was measured with different volumes (20, 40, and 60 cc). Group 1 (G1): 81 RFC. Group 2 (G2): 54 MMC. Patients with developmental delay, compliant anal sphincter, sacral agenesis and non-cooperative patients were excluded. Results. A total of 135 individuals were included (62 were male). Their median age was 9.57 years in G1 and 9.63 years in G2. Average duration in G1 versus G2 with 20 cc: 8.89 versus 15.21 seconds; 40 cc: 11.41 versus 21.12 seconds; 60 cc: 14.15 versus 26.02 seconds. The difference in RAIR duration with the varying volumes was statistically significant (p = 0.0001). Conclusion. RAIR duration was longer with increasing balloon inflation volumes in both populations. RAIR duration was longer in patients with MMC than in those with RFC. Spinal injury should be ruled out in patients with prolonged RAIR.

Evaluación del proceso de atención urológica de pacientes pediátricos con mielomeningocele / Evaluation of the urological care process of pediatric patients with myelomeningocele

Introducción: El mielomeningocele (MMC) es una de las malformaciones congénitas más severas compatible con la vida. El 90% de los pacientes presenta vejiga neurogénica que debe ser evaluada y tratada precozmente. Objetivos: Describir la evaluación y tratamiento nefrourológico recibido por pacientes con MMC hasta el momento de la primera consulta en el Hospital Garrahan (periodo pre-ingreso). Describir la evaluación realizada y el tratamiento urológico implementado a partir del ingreso al hospital Garrahan (periodo post-ingreso). Evaluar la prevalencia de Enfermedad Renal Crónica (ERC). Población y Métodos: Se realizó un estudio con diseño clínico analítico, retrospectivo, longitudinal sobre pacientes con MMC de 1 mes a 18 años derivados al Hospital Garrahan para atención ambulatoria en los años 2011 y 2012. Resultados: Se incluyeron115 pacientes. Al momento de la derivación al hospital ("pre-ingreso") 7% de los pacientes habían logrado completar evaluación nefrourológica, (ecografía vesicorenal, urodinamia, Cistouretrografía, Centellograma renal y Creatininemia). Tratamiento: 33% vaciaban vejiga por CIL o vesicostomía y 21% recibían Oxibutinina. A partir del ingreso al seguimiento en el Garrahan 83% lograron completar la evaluación, y en función del resultado de la misma se indicó CIL en 87% y Oxibutinina en el 66% de los pacientes. La prevalencia de ERC al ingreso fue de 43%; la mayoría en estadio I. Conclusiones: La mayoría de los pacientes con MMC fueron derivados al hospital de tercer nivel con evaluaciones urológicas incompletas y sin el tratamiento adecuado de la vejiga neurogénica. El inicio del seguimiento interdisciplinario en un hospital de alta complejidad facilitó la realización de las evaluaciones necesarias y la implementación del tratamiento adecuado (AU)

Introduction: Myelomeningocele (MMC) is one of the most severe congenital malformations compatible with life. Of all the patients, 90% presents with a neurogenic bladder requiring early evaluation and treatment. Objectives: To describe the uronephrological evaluation and treatment received by patients with MMC up to the first consultation at Garrahan Hospital (pre-follow-up period). To describe the urological evaluation and treatment implemented from referral to Garrahan Hospital (follow-up period). To evaluate the prevalence of chronic kidney disease (CKD). Population and Methods: A retrospective, longitudinal study with a clinical, analytical design was conducted in patients with MMC between 1 months and 18 years of age referred to Garrahan Hospital for outpatient care in 2011 and 2012. Results: 115 patients were included. At the time of referral to the hospital ("pre-follow-up") 7% of the patients had undergone complete uronephrological evaluation (kidney-bladder ultrasonography, urodynamic studies, cystourethrography, renal scintigraphy, and creatininemia levels). Treatment: 33% emptied their bladder by CIC or vesicostomy and 21% received oxybutynin. From follow-up initiation at Garrahan Hospital, 83% underwent complete evaluation, and based on the results CIC was indicated in 87% and oxybutynin in 66% of the patients. On admission, prevalence of CKD was 43%; with stage I in the majority of the patients. Conclusions: The majority of the patients with MMC were referred to a third-level hospital with incomplete urological studies and without adequate treatment of the neurogenic bladder. Initiation of interdisciplinary follow-up at a tertiary hospital allowed for the necessary studies and implementation of adequate treatment (AU)

Mielomeningocele: actualización para la práctica clínica / Myelomeningocele: update for clinical practice

El mielomeningocele es una de las malformaciones congénitas más frecuentes en Honduras, que se caracteriza por un cierre anormal de la lámina posterior de los cuerpos vertebrales, con la exposición de las estructuras nerviosas. El propósito de esta revisión fue recopilar información que apoye la práctica clínica oportuna en pacientes con mielomeningocele, especialmente en la literatura médica hondureña, reforzada con literatura de otras revistas médicas nacionales e internacionales, en la base de datos PubMed y LILACS, para el periodo 1985- 2018. En conclusión, dar un manejo oportuno proporciona un mejor pronóstico y calidad de vida a los pacientes con defectos del tubo neural...(AU)

Cirugía precoz en la prevención de la sepsis del recién nacido con mielomeningocele / Precocious surgery in preventing the sepsis of newborn with meningomyelocele

El mielomeningocele es una malformación congénita por defecto del cierre del tubo neural, se produce en las primeras semanas de crecimiento intrauterino. Consiste en una masa quística que incluye tejido nervioso y meninges, acompañadas de una fusión incompleta de los arcos vertebrales. Produce severos daños neurales y puede asociarse a otras malformaciones. Su reparación, en las primeras horas de vida, es necesaria para evitar complicaciones que pueden comprometer la vida del niño o causar mayor discapacidad. Se reportó un caso de un recién nacido con diagnóstico de mielomeningocele fisurado, a nivel lumbar. Se intervino quirúrgicamente en las primeras 6 h de vida; se disecó el saco dural y se separaron las raíces, logrando el cierre completo de la duramadre. Se reparó la piel con afrontamiento de los bordes y adecuada cicatrización de la herida. Fue aplicada antibioticoterapia profiláctica con cefalosporina de tercera generación. El infante egresó a los 10 días de operado sin complicaciones neuroquirúgicas asociadas (AU).

Meningomyelocele is a congenital malformation by defect of neural tube closing, produced in the first weeks of intrauterine grow. It is a cystic mass that includes nervous tissues and meninges, together with an incomplete fusion of the vertebral arches. It produces severe neural damages and could be associated to other malformations. It is necessary to repair it during the first hours after birth to avoid complications that could compromise the child’s life or cause more disability. The case of a new-born child diagnosed with fissured meningomyelocele at the lumbar level is presented. He was operated in the first six hours after birth; the dural sac was dissected and the roots separated, reaching the complete dura mater closure. The skin was repaired with edges affronting and adequate wound healing. Prophylactic antibiotic therapy with third generation cephalosporin was applied. The child was discharged 10 days alter the surgery without associated neurosurgical complications (AU).

Benefits from using an ankle-foot orthosis in children with myelomeningocele / Benefícios do uso da órtese tornozelo-pé nas crianças com mielomeningocele

Myelomeningocele (MMC) or spina bifida is a defect of the neural tube in which the spinal cord, its envelopes (meninges), and vertebral arches develop abnormally in the beginning of gestation, and owing to this failure of closure there appear a series of congenital defects and associated comorbidies, impairing in several aspects the functioning of the life of children with MMC. The congenital clubfoot has been found the most common orthopaedic anomaly in patients with MMC. The ankle-foot orthosis (AFO) is an orthopaedic device commonly used by these children to minimize the sequelae caused by this anomaly. OBJECTIVE: Identify the functional benefits brought about by the use of the AFO to children with MMC, as reported by their guardians. METHOD: Descriptive, transversal study. Convenience sample consisting of 25 guardians of children with MMC who were using/had used an AFO. RESULTS: Eighty percent of the guardians have reported at least one benefit brought about by the use of the AFO, among them: improvement in foot position (68%), foot growth (40%), improvement in foot balance (32%), and balance sitting position (15%). CONCLUSION: The use of the AFO by children with MMC can provide several benefits reported by their guardians.

A mielomeningocele (MMC) ou espinha bífida é um defeito do tubo neura no qual a medula espinal, seus envoltórios (meninges) e os arcos vertebrais desenvolvem-se anormalmente no início da gestação e, como consequências, temos uma série de defeitos congênitos e comorbidades associadas prejudicando a funcionalidade em diversos aspectos da vida das crianças com MMC. O pé torto congênito foi apontado como a anomalia ortopédica mais comum nos pacientes com MMC e a órtese tornozelo-pé (OTP) é um aparelho ortopédico que pode ser usado nessas crianças para amenizar as sequelas geradas por essa anomalia. OBJETIVO: Identificar os benefícios funcionais trazidos pelo uso da OTP em crianças com MMC relata-dos pelos seus responsáveis. MÉTODO: Estudo descritivo, transversal. Amostra de conveniência composta por responsáveis de 25 crianças com MMC que usavam/usaram a OTP que responderam a uma entrevista estruturada que contemplava as variáveis estudadas. RESULTADOS: Oitenta por cento dos responsáveis relataram pelo menos um benefício causado pelo uso da OTP, dentre eles: melhorou a postura do pé (68%), o pé cresceu (40%), melhorou o equilíbrio em pé (32%), melhorou o equilíbrio sentado (15%). CONCLUSÃO: O uso da OTP em crianças com MMC pode proporcionar benefícios identificados pelos responsáveis.

A moralidade do aborto de fetos com mielomeningocele / The morality of abortion of fetuses with Myelomeningocele

O progresso da ciência médica vem permitindo diagnósticos pré-natais cada vez mais precoces e mais acurados. Assim é cada vez maior o numero de mulheres que tomam conhecimento do fato de que suas gravidezes não estão ocorrendo como planejado. O diagnóstico pré-natal de fetos malformados, e aqui no nosso caso, com mielomeningocele tem gerado inúmeras discussões. É moralmente aceito interromper a gestação de fetos com mielomeningocele? A criança com mielomeningocele é considerada uma criança complexa crônica por sofrer de uma condição com acometimento de muitos órgãos e funções, como o sistema nervoso, o aparelho urinário, a capacidade de deambular, o que a torna extremamente dependente do cuidado de outras pessoas. Nem todas as mulheres estão preparadas ou querem conviver com as dificuldades de ter um filho deficiente. É moralmente aceitável oferecermos a possibilidade de aborto diante desse quadro? Esta dissertação se propõe a discutir a moralidade do aborto de fetos com mielomeningocele, analisando à luz da bioética seus argumentos contra e a favor.

The progress of medical science has allowed pre-natal diagnosis even earlier and more accurate. Lately, more women are aware of the fact that their pregnancy have not been planned as they imagined. The diagnosis of malformed fetuses, as here as our subject with myelomeningocele, have emerged several discussions. Is it morally accepted termination of pregnancy of fetuses with mielomeningocele? One child with myelomeningocele is considered as achronic complex due to involvement of different organs and functions such as the nervous central system, urinary tract and the ability to walk, leading these children to be always dependent on the care of others. It has been known that many women are not prepared and do not want to live under this situation. Therefore, is it morally acceptable to offer the possibility of performing an abortion on this context? This thesis has the main purpose to discuss the morality of abortion of fetuses with myelomeningocele, analysing, under the light of bioethics, arguments for and against.

Tratamento cirúrgico de meningomielocele no período neonatal / Urgical trearment of meningomyelocele defects in neonatal period

As meningomieloceles são defeitos congênitos de fechamento do canal medular, com gravidade variável. Os defeitos são encontrados principalmente na região lombossacra e há hidrocefalia em 80-90% dos casos. O objetivo deste trabalho foi estudar uma série de pacientes operados por meningomielocele no período neonatal, no período de janeiro de 2001 a janeiro de 2003. Foram incluídos 22 pacientes no estudo, sendo 12 (54,5%) masculinos e 19 (86%) de etnia caucasiana. A maioria dos pacientes eram a termo (37,5±1,3 semanas) e com peso adequado para idade gestacional (2960,5±609,6 gramas). Foi realizada cesárea em 16 casos (72,7%). O fechamento foi executado da seguinte forma: primário em 5 casos (23%); "skin-over-skin" em 6 casos (27%); bipediculado fasciocutâneo bilateral em 5 casos (23%); bipediculado fasciocutâneo unilateral em 1 caso (5%); fasciocutâneo com pedículo superior em 2 casos (9%); bilobado fasciocutâneo em 1 caso (5%); fasciocutâneo em S em 2 casos (9%). Houve DVP em 18 casos (81,8%). As complicações ocorridas foram: deiscência de sutura (23%); necrose parcial (18%) e fístulas (14%). A técnica "skin-over-skin" e os retalhos fasciocutâneos são alternativas efetivas para o fechamento de meningomieloceles no período neonatal.

Purpose: To study the incidence surgical treatment oflargeth or acolumbar meningomyeloceles duringathree- year period in a Brazilian referral center. Patients and methods: We prospectively evaluated all patients submitted to surgical management of meningomyelocele by both the plastic surgery and neurosurgery teams of Hospital de Clínicas de Porto Alegre between September 2001 and August 2003. Results: Twenty four patients were included in this study, being 13 (54.2%) males and 21 (87.5%) of Caucasian ethnicity. Most patients were born at term (37,5±1,3 weeks) and with weight adjusted for gestacional age (2960,5±609,6 gram). The closing was executed of the following form: direct skin approximation in 5 cases (23%); "skin-over-skin" in 6 cases (27%); bilateral bipedicled fasciocutaneous flaps in 5 cases (23%);unilateral bipedicled fasciocutaneous flap sin 1 case (5%); superior pedicled asciocutaneous in 2 cases (9%); bilobed fasciocutaneous flap in 1 case (5%); bilateral fasciocutaneous flaps (S flap) in 2 cases (9%). V-P shunt was placed in 18 cases (81.8%). Suture dehiscence (23%); partial necrosis (18%) and fistulas (14%) were the main complications. Conclusion: Skin-over-skin and fasciocutaneous flaps are good alternative for reconstruction of meningomielocele sin the neonatalperiod.

Perfil dos pacientes com mielomeningocele da Associação de Assistência à Criança Deficiente (AACD) em São Paulo - SP, Brasil / Profile of the patients with myelomeningocele from the Associação de Assistência à Criança Deficiente (AACD) in São Paulo - SP, Brazil

Dentre os defeitos de fechamento do tubo neural a Mielomeningocele (MMC) é a mais freqüente (85%). A etiologia é desconhecida, mas com características genéticas e ambientais. O diagnóstico pode ser feito no período pré-natal através de ultra-sonografia morfológica. Recomenda-se o fechamento da bolsa nas primeiras horas de vida e derivação ventrículo peritoneal (DVP) precoce. Objetivo: Traçar o perfil dos pacientes atendidos na Clínica de MMC da AACD - SP e pontuar as condições em que estes chegam à instituição objetivando verificar se ocorre o diagnóstico precoce e aprimorar as condutas do tratamento. Método: Revisão em prontuários de pacientes atendidos em avaliação inicial na Clínica de MMC da AACD - SP durante o ano de 2000, com idade inferior a um ano. As informações foram obtidas dos prontuários através de um protocolo de pesquisa. Entre as informações colhidas tem-se: dados pessoais, nível neurológico na primeira consulta, diagnóstico pré-natal, idade de fechamento da bolsa, presença ou não de DVP. Resultados: No total passaram 230 pacientes em avaliação inicial no ano de 2000. Destes, 64 (27%) apresentavam menos de 1 ano de idade na primeira consulta. A média de idade na avaliação inicial para estes pacientes foi de 5 meses. Destes, 44% eram do sexo feminino e 56% do sexo masculino. Em 37% dos pacientes o diagnóstico não foi feito no período pré-natal. Ao analisarmos a idade de fechamento da bolsatemos que em 51% dos pacientes isto ocorreu nas primeiras 24 horas de vida. Somente 17% dos pacientes não tinham sido submetidos à DVP até o momento da avaliação inicial. Ao analisarmos o nível neurológico na avaliação inicial observamos que 35% são do nível Torácico, 29% do nível Lombar Alto, 24% do nível Lombar Baixo, 11% do nível Assimétrico e nenhum paciente de nível sacral. Conclusão: Por ser a AACD - SP centro de referência no tratamento de MMC pode ser explicado o fato de recebermos maior número de crianças com níveis funcionais mais altos. É importante tentar estimular tanto a prevenção como o diagnóstico e tratamento precoce desta patologia visando diminuir o impacto que esta causa na sociedade. Foi achado esperado o não diagnóstico ou o diagnóstico tardio de MMC em nosso estudo, pois em nosso país ainda não é realizado de forma rotineira nos postos de saúde o ultra-som morfológico durante o acompanhamento pré-natal da gestante. A sobrevida dos pacientes com MMC tem aumentado devido ao fechamento precoce da bolsa e controle da hidrocefalia com DVP, associado posteriormente ao controle da bexiga neurogênica.

Myelomeningocele (MMC) is the most frequent of the Neural Tube Defects, with 85% of the cases. The etiology is unknown,but it has genetic and environmental characteristics. The diagnosis can be achieved in the prenatal period through the morphologicalultrasonography. The closing of the defect within the first hours after birth is recommended as well as the early control of hydrocephalus. Objective: To describe the profile of the patients treated at the Myelomeningocele Clinic of the Assistance Association to the Defective Child - AACD - SP and assess their clinical condition upon admission at the Institution, aiming at verifying whether the early diagnosis has been attained and improving treatment procedures. Methods: To review the files of patients seen at the initial assessment of the MMC Clinic of AACD - SP during the year of 2000, aged younger than one year. The information was obtained from patients? files through a research protocol and consisted of personal data, neurological level at the first assessment, prenatal diagnosis, age at the closing of the defect and presence or absence of ventriculoperitoneal shunt (VPS). Results: A total of 230 patients were assessed in the year 2000. Of these, 64 (27%) were younger than 1 year at the initial assessment. Mean age at the initial evaluation was 5 months and 44% of the patients were females, whereas 56% were males. Diagnosis at the prenatal period had not been achieved in 37% of the patients. The closing of the defect was performed within the 24 hours after birth in 51% of the patients. Only 17% of the patients had not undergone VPS at the time of the initial assessment. The neurological assessment at the nitial valuation disclosed 35% thoracic, 29% high lumbar, 24% low lumbar, 11% asymmetric and no patient at the sacral level. Conclusion: The AACD - SP is a Reference Center in the treatment of MMC and this might account for the fact that the center receives a large number of children with higher functional levels. It is important to try to stimula not only the prevention, but also the diagnosis and early treatment of this pathology, aiming at decreasing its impact on society. The lack of or late diagnosis of MMC was an expected finding in the present study, as the morphological ultrasound is not routinely performed in Basic Health Units in our country during the prenatal follow-up. The survival of patients with MMC has increased due to the early closing of the defect and hydrocephalus control through VPS, associated with posterior control of the neurogenic bladder.

La rodilla en el mielomeningocele / The knee in the mielomeningocele

Después de una actualización sobre el mielomeningocele, se expone en este trabajo la afectación de la rodilla en el mismo y nuestra postura quirúrgica ante ambas deformidades en flexión y en extensión.

Avaliação de fatores prognósticos da deambulação em crianças com mielomeningocele / Prognostic factors influencing ambulation in children with myelomeningocele

Objetivo: caracterizar o grau de acometimento neurológico, estabelecendo uma correlação entre o nível funcional da lesão e a aquisição da marcha, além de identificar os fatores que interferem nessa capacidade. Método: foram avaliadas prospectivamente vinye e oito crianças portadoras de mielomeningocele operadas com idade igual ou superior a três anos. Foram determinados o nível funcional da lesão, a aquisição ou não da marcha e os fatores associados por meio das medidas do grau de força muscular nos membros inferiores, presença de deformidades articulares, ocorrência de contratura da musculatura flexora e trato iliotibial, eficácia da reação de equilíbrio e presença de hidrocefalia tratada. Resultados: todos os fatores avaliados, exceto a hidrcefalia, foram relacionados de forma significativa à aquisição da marcha. Conclusão: a aquisição da marcha em crianças portadoras de mielomeningocele sofre influência de vários fatores, além do nível de acometimento neurológico, o que deve ser considerado no prognóstico e na programação terapêutica.

Outcome of patients with meningomyelocele

Meningomyelocele is the most common congenital anomaly of the central nerves system [CNS].It is not only a spinal cord anomaly; associate hindbrain abnormalities, hydrocephalus, bladder, and bowel disturbance, and orthopedic deformities make a team effort necessary. We reviewed our patients with meningomyelocele and evaluated their early and long-term outcomes. We included 45 patients with meningomyelocele operated on between 1990 and 2004 in this study. The medical records were reviewed from the aspects of neurological and physical findings, surgery performed, and complications. Parental age and education were analyzed when available. The chiary-square test was used for the statiscal analyses. There werel9 boys [42.2%] and 26 girls [57.8%]. The lumbar region was the site of the meningomyelocele in 27 patients [62%].Patients with cervical and sacral meningomyelocele had a higher rate of normal motor function than those with meningomyelocele at other levels [p=0.0001].We also noted that the higher the location of meningomyelocele, the greater the control of both sphincters [p=0.0013]. The management of children with meningomyelocele needs a team approach. The majority of patients can have a normal IQ and a socially acceptable degree of continence and be able to walk. The patients should be treated with aggressive therapies whenever possible

Lateral sacral meningomyelocele as a gluteal swelling--an unusual presentation.

Paravertebral meningoceles are rare examples of craniospinal dysraphism. A young boy presented with a cystic swelling over left gluteal region with lumbosacral scoliosis. On exploration, he was found to have a laterally placed sacral meningomyelocele. The presence of an unusually located meningocele should be suspected when a paravertebral mass is associated with neurological deficit or deformity of the spine.

Myelomeningocele: a Brazilian University Hospital experience

Avaliamos 31 crianças com mielomeningocele nascidas entre julho de 1990 e julho de 2000. A mediana de acompanhamento foi 24 meses (6-68m). Duas mães possuíam conhecido fator de risco (diabetes mellitus). Doze obtiveram correto diagnóstico pré-natal da patologia. Todas as crianças nasceram a termo; 23 via cesariana; 13 apresentaram ruptura de membrana. A mediana de correção cirúrgica foi 4 dias (1-44d). Lesões lombosacras foram as mais freqüentes (46%). Trinta pacientes apresentaram hidrocefalia, sendo a derivação ventrículo peritoneal (DVP) necessária em 27. Meningite foi 4 vezes mais frequente em pacientes com DVP. Sete pacientes eram epilépticos (19,4%). O teste de Denver II mostrou atraso motor significante. Bexiga neurogênica foi diagnosticada em 12 pacientes. Pé torto congênito foi a malformação ortopédica mais comum (53%). Seis pacientes morreram. Até o momento, 17 pacientes são acompanhados. Uma abordagem multidisciplinar provavelmente colabora para melhor qualidade de vida.

Prenatal intervention for urinary obstruction and myelomeningocele

Widespread use of ultrasonography has resulted in an increase in the recognition of fetal hydronephrosis. The enthusiasm that accompanied early interventions has been tempered by the experience and results obtained over the past 2 decades. The goal has remained the same: to identify patients with serious prenatal obstruction and to identify those which may benefit from intervention. Myelomeningocele remains a devastating congenital anomaly. Fetal and experimental studies suggested that patients with myelomeningocele could benefit from prenatal intervention. Advances in technology and perinatal management have made intervention for more complex malformations such as myelomeningocele possible. This article will review current knowledge and will detail rational management for the management of prenatal hydronephrosis. The current state of antenatal myelomeningocele repair and the urologic implications will be described as well.

Terminal myelocystocele.

Terminal myelocystocele is an unusual form of occult spinal dysraphism. It consists of a cystic dilatation of a low-lying terminal cord herniated posteriorly through a skin covered lumbosacral spina bifida. This condition is often associated with OEIS complex i.e. opmphalocele, exstrophy of the bladder, imperforate anus and spinal abnormality. We studied 4 cases of terminal myelocystocele. They revealed no preoperative neurological deficit. None of these had associated OEIS complex. One of the cyst was unique due to presence of copious amount of pus in its cavity. All four cases underwent successful repair and surgery remained uneventful in all of them. No child showed neurological deterioration during the follow-up.

Prenatal diagnosis and fetal therapy--what lies in future?

Prenatal diagnosis has traditionally occurred between the 15th and 20th weeks of gestation. However, the capabilities of screening and diagnostic tools have advanced substantially over the past 10 years. Recent advances in the science of prenatal diagnosis allow for the evaluation of an affected embryo or an abnormal cell line prior to gestation within the womb via preimplantation diagnosis. The technique can be used for any genetic condition which can be detected with a chromosome-specific probe. At the current time, noninvasive second trimester maternal serum screening with either 2 or 3 serum analytes is associated with a 60-70% detection rate of Down syndrome. Although these particular serum markers are not useful during the first trimester, the fetoplacental secretory products-free beta-hCG and pregnancy-associated plasma protein-A (PAPP-A) appear to be meaningful clinically when measured between 8 and 13 weeks of gestation, yielding similar first trimester detection rates as the current second trimester screening programme. The addition of nuchal translucency measurements as an independent predictor of fetal aneuploidy may further increase the detection rate of Down syndrome to 80%. Open fetal surgery is now possible under highly selective circumstances in which the fetal condition is considered life-threatening and the prognosis is extremely poor. Surgical intervention may be appropriate for congenital cystic adenomatoid malformation, bronchopulmonary sequestration, congenital diaphragmatic hernia, and possibly for myelomeningocele.

Encefalomeningoceles: incidencia, características y evolución / Encephaloceles: incidence and evolution

Se estudiaron 82 casos de 95 registrados con diagnóstico de encéfalomeningocele en el Hospital Infantil Dr. Robert Reid Cabral, en el período comprendido entre abril 1984 y abril 1997. Se analizó la procedencia, edad materna, localización y tipo de la lesión, malformaciones asociadas y resultado del manejo quirúrgico. 43 pacientes eran hembras y 39 varones, su edad estaba comprendida entre 0 a 8 años. 73// de los niños procedía de la Región Sur del país. 17.6// de las madres era menor de 20 años. 80// de los pacientes eran normocéfalo. En solo 7 casos se encontró anomalías intracraneales asociadas. En la mayoría de los pacientes (60.9//), el tratamiento quirúrgico consistió en extirpación/corrección de la lesión. La mortalidad operatoria fue 4//

Terminal myelocystocele: a case report

Terminal myelocystocele is a rare form of occult spinal dysraphism in which the hydromyelic caudal spinal cord and the subarachnoid space are hemiated through a posterior spina bifida. A 1.5 month old boy presented with a large lumbosacral mass and urinary incontinence. The magnetic resonance imaging, operative findings and pathological findings revealed a low lying conus with a dilated central canal dorsally attached to the subcutaneous tissue. Ventral subarachnoid space was enlarged and herniated through the laminar defect of the sacrum. The lesion was typical of a terminal myelocystocele. The clinical features are different from those of myelomeningocele in many aspects. Though the incidence is low, terminal myelocystocele should be included in the differential diagnosis of congenital lesions presenting as a lumbosacral mass.