Sexuality of Female Spina Bifida Patients: Predictors of a Satisfactory Sexual Function / Sexualidade feminina em pacientes com espinha bífida: preditores de uma função sexual satisfatória

Abstract Objective To assess the sexual function of women with spina bifida (SB), and to verify the factors that influence their sexual function. Methods A cross-sectional study in which a validated female-specific questionnaire was applied to 140 SB female patients from four different cities (Porto Alegre, Brazil; and Barcelona, Madrid, and Málaga, Spain) between 2019 and 2020. The questionnaires collected data on the clinical characteristics of SB, and female sexual function was assessed using the 6-item version of the Female Sexual Function Index (FSFI-6) validated to Portuguese and Spanish. Results Half of the patients had had sexual activity at least once in the life, but most (57.1%) did not use any contraception method. Sexual dysfunction was present in most (84.3%) patients, and all sexual function domains were impaired compared those of non-neurogenic women. The presence of urinary and fecal incontinence significantly affected the quality of their sexual activity based on the FSFI-6. Conclusion The specific clinical aspects of the SB patients, such as urinary and fecal incontinence, should be properly addressed by their doctors, since they are associated with reduced sexual activity and lower FSFI-6 scores in the overall or specific domains. There is also a need to improve gynecological care among sexually-active SB patients, since most do not use any contraceptive methods and are at risk of inadvertent pregnancy.

Resumo Objetivo Analisar a função sexual de pacientes do sexo feminino com espinha bífida (EB), e avaliar quais fatores influenciam na função sexual. Métodos Uma pesquisa transversal em que um questionário validado para mulheres foi aplicado em 140 pacientes com EB de quatro cidades diferentes (Porto Alegre, Brasil; e Barcelona, Madri e Málaga, Espanha) entre 2019 e 2020. Os questionários coletaram dados sobre características clínicas da espinha bífida, e a função sexual feminina foi avaliada com a versão de seis itens do Índice de Funcionamento Sexual Feminino (IFSF-6) nas versões validadas para português e espanhol. Resultados Metade das pacientes havia praticado atividade sexual pelo menos uma vez na vida, mas a maioria (57.1%) não utilizava nenhum método contraceptivo. A disfunção sexual estava presente na maioria das pacientes (84.3%), sendo todos os domínios de função sexual prejudicados em comparação com os de mulheres não neurogênicas. A presença de incontinência urinária e fecal afetou significativamente a qualidade da atividade sexual das pacientes. Conclusão Aspectos clínicos específicos da EB, como incontinência urinária e fecal, devem ser adequadamente abordados pelos médicos assistentes, visto que estão associados à redução na atividade sexual e piores resultados no IFSF-6. Também é necessário melhorar o atendimento ginecológico das pacientes sexualmente ativas, uma vez que a maioria não utiliza métodos contraceptivos e corre o risco de gravidez inadvertida.

Translation and validation of the brazilian version of the quality of life assessment in spina bifida questionnaire for children and teenagers / Tradução e validação da versão brasileira do questionário quality of life assessment in spina bifida para crianças e adolescentes

ABSTRACT Objective: To assess the reliability and validity of the Quality of Life Assessment in Spina Bifida (QUALAS), children and teenager's versions (QUALAS C and T, respectively). This is the first self-applicable quality of life assessment tool for patients under 13 years of age, which also addresses the issue of urinary and fecal incontinence. Methods: Two urologists performed the translation of both QUALAS versions. A commission produced a consensus version (Version 2), which was applied as a pilot study to define Version 3. It was then backtranslated into English and compared with the original version for equivalence of concepts. Internal consistency with Cronbach's alpha and the intraclass correlation coefficient (ICC) reproducibility was analyzed after two assessments with an interval from two to four weeks. Convergent and divergent validities between the QUALAS and a generic health-related quality of life questionnaire, the KIDSCREEN-27, were studied through Pearson's correlation. Results: The reliability analysis showed good internal consistency for QUALAS-C (α=0.73) and QUALAS-T (α=0.79) and good reproducibility in both questionnaires (QUALAS-C - ICC=0.86; QUALAS-T - ICC=0.92). For QUALAS-C convergent validity, there was a low correlation between its items (r=0.35). In addition, a low correlation was also found in the divergent validity analysis, when compared to the KIDSCREEN-27 (r≤0.33). Convergent and divergent validities of the QUALAS-T questionnaire had similar results: r=0.46 and r≤0.49, respectively. Conclusions: After the adaptation and validation process, QUALAS-C and QUALAS-T questionnaires showed to be reliable and valid instruments for measuring the health-related quality of life of children and teenagers with spina bifida aged 8 years or older.

RESUMO Objetivo: Avaliar a confiabilidade e a validade do questionário QUALAS (Quality of Life Assessment in Spina Bifida) nas versões para crianças e adolescentes (QUALAS-C e QUALAS-T, respectivamente). Este é o primeiro instrumento autoaplicável de avaliação da qualidade de vida para pacientes menores de 13 anos e que também aborda a questão das incontinências urinária e fecal. Métodos: Dois urologistas realizaram a tradução das duas versões do QUALAS. Uma comissão produziu uma versão de consenso (Versão 2), a qual foi aplicada no estudo piloto para definir a Versão 3. Esta foi retrotraduzida para o inglês e comparada à versão original para equivalência de conceitos. Para verificar a confiabilidade, analisou-se a consistência interna com o alfa de Cronbach e a reprodutibilidade com o coeficiente de correlação intraclasse (CCI) após duas aplicações do questionário em intervalo de duas a quatro semanas. As validades convergente e divergente foram estudadas por meio da correlação de Pearson entre o QUALAS e um questionário genérico de qualidade de vida relacionada à saúde, o KIDSCREEN-27. Resultados: A análise de confiabilidade revelou que ambos os questionários apresentaram boa consistência interna (QUALAS-C - α=0,73; QUALAS-T - α=0,79) e boa reprodutibilidade (QUALAS-C - CCI=0,86; QUALAS-T - CCI=0,92). Na análise da validade convergente do QUALAS-C, observou-se baixa correlação entre os itens (r=0,35). Além disso, a análise da validade divergente também demonstrou baixa correlação quando comparada ao KIDSCREEN-27 (r≤0,33). As validades convergente e divergente do questionário QUALAS-T tiveram resultados semelhantes: r=0,46 e r≤0,49, respectivamente. Conclusões: Após o processo de adaptação e validação, pode-se afirmar que os questionários QUALAS-C e QUALAS-T são instrumentos confiáveis e válidos para a mensuração da qualidade de vida relacionada à saúde de crianças e adolescentes com espinha bífida a partir dos 8 anos de idade.

¿Existe tendencia estacional en las anomalías del tubo neural en Guatemala? / Exist a stational trends in neural tube defects in Guatemala?

Antecedentes: Las anomalías del tubo neural son frecuentes en Guatemala. Una mayor frecuencia se observa en el antiplano guatemalteco, con mayor concentración de población indígena y con mayor depauperación económica. Observaciones de especialistas indican que en el primer semestre del año son mucho más frecuentes que en el segundo. Estas observaciones señalan que algo existe en el ambiente, probablemente en el ambiente alimentario, relacionado con el consumo de maíz, base dietética del guatemalteco. En el grano de este cereal, existe, fumomisinas (micotoxinas producidas por hongos) en gran cantidad, que tienen un efecto inhibidor de la captación celular de ácido fólico, micronutriente íntimamente relacionado con el cierre temprano del tubo neural. Objetivo: Demostrar si es cierto que existe mayor frecuencia de anomalías del tubo neural en Guatemala en el primer semestre del año que en el segundo, principalmente en los denominados meses de verano. Sugerir hipótesis futuras que expliquen este comportamiento epidemiológico. Metodología: Estudio descriptivo-analítico retrospectivo en la Unidad de Espina Bífida del Hospital General San Juan de Dios y en las 8 áreas geoeconómicas de Guatemala, analizando una sola variable: La fecha de nacimiento de niños y niñas que presentaron anomalías del tubo neural de diferente tipo. Resultados: Se demuestra que en efecto las anomalías del tubo neural son más frecuentes en el primer semestre del año que en el segundo. Principalmente en los meses de marzo-abril. Y que ocurren con menos frecuencia en el segundo semestre. Estos datos se podrían vincular con el consumo dietético de maíz, grano que también tiene diferencias estacionales en cuanto a su producción, almacenamiento, preparación y consumo (AU)

Defecto del tubo neural / Neural Tube Defect

Los defectos del tubo neural constituyen las malformaciones congénitas más frecuentes en muchos países. Dentro de los defectos del tubo neural, se encuentra la espina bífida, la cual constituye un defecto que afecta la piel, los tejidos blandos y arcos vertebrales subyacentes, con exposición del canal; lo cual resulta de un fallo del cierre del extremo caudal del tubo neural. Existe la llamada espina bífida abierta, dentro de las que se encuentran el mielomeningocele y el meningocele (85 por ciento del total de las espinas bífidas). El objetivo del trabajo es resaltar la importancia del diagnóstico precoz de malformaciones congénitas y/o defectos estructurales del feto, por ultrasonografía, en la atención primaria de salud. Se presentan las imágenes ecográficas de un caso de afectación fetal por espina bífida abierta a las 22 semanas, sin otros hallazgos ultrasonográficos. Previo asesoramiento genético, la pareja decidió la terminación del embarazo. El caso fue confirmado por anatomía patológica como un feto con espina bífida abierta con mielomeningocele en la región lumbar(AU)

Neural tube defects are very frequent in many countries. The term spina bifida is still commonly used as a synonym for spinal dysraphism, although it properly refers to defective fusion of posterior spinal bony elements. Both myelomeningoceles and myeloceles originate from defective closure of the primary neural tube, which are present in most spina bifida cases (85 percent. The objective of this article is to emphasize the importance of early diagnosis of congenital malformations by ultrasonography in primary health care. We present a case of prenatal ultrasonographic diagnosis of open spina bifida at 22 weeks of gestation, with no other ultrasonographic findings. Prior genetic counseling, the couple decided the termination of pregnancy. The case was confirmed by pathology as an open spina bifida with lumbar myelomeningocele(AU)

Oral health status of a sample of Venezuelan patients with spina bifida: a cross-sectional study / Estado de salud bucal de una muestra de pacientes venezolanos con espina bífida: estudio transversal

Abstract: spina bifida (SB) is a congenital malformation of the spinal cord associated with several vertebral abnormalities caused by incomplete neural tube closure. The aim of this study is to report on the oral health status of a sample of Venezuelan patients with SB. Materials and Methods: An observational cross-sectional study was performed in 30 patients with SB to determine their oral health status and other variables of interest. Results: A 46.7 percent of the patients had a history of caries: 22 percent in the 1-4 year group, 71.4 percent in the 5-7 year group, and 100 percent in the 8-16 year group. The dmft and DMFT indices were 1.55 and 3.50, respectively. A 46.7 percent of the patients had gingivitis, 30 percent had dental calculus, with an OHI-S of 2. The 83 percent had Angle Class II and 17 percent, Angle Class I. A 40 percent had parafunctional habits such as digital suction, use of pacifiers and onicophagia. The 70 percent had deep palate. Conclusion: Patients with SB have specific oral characteristics and risk factors that must be taken into account in dental treatments to provide adequate care and improve their quality of life.

Resumen: la espina bífida (EB) es una malformación congénita de la médula espinal con alteraciones vertebrales simultáneas, debido al cierre incompleto del tubo neural. El objetivo de este trabajo es reportar el estado de salud bucal de una muestra de pacientes venezolanos con EB. Materiales y métodos: se realizó un estudio observacional de corte transversal donde se evaluaron 30 pacientes con EB para determinar su estado de salud bucal y otras variables de interés. Resultados: Un 46,7 por ciento de los pacientes presentó historia de caries, con un 22,2 por ciento en el grupo de 1-4 años, 71,4 por ciento en el grupo 5-7 años y del 100 por ciento en los pacientes de 8 a 16 años. El índice ceod fue de 1.55 y el COPD de 3.50. Un 46,7 por ciento presentó gingivitis, el 30 por ciento presentó cálculo dental, siendo el IHOS de 2. El 83 por ciento presentó clase II de Angle y el 17 por ciento clase I de Angle. El 40 por ciento tenía hábitos parafuncionales, siendo éstos, la succión digital, uso de pacificadores y la onicofagia. El 70 por ciento de los pacientes presentó paladar profundo. Conclusiones: Los pacientes con EB presentan características bucales particulares y factores de riesgo que deben ser considerados durante la consulta odontológica para brindarle una atención de adecuada y mejorar su calidad de vida.

Anestesia neuroaxial en trabajo de parto y cesárea en pacientes con antecedentes de mielomeningocele operado / Neuraxial anesthesia in labor and cesarean delivery in patients with a history of myelomeningocele operated

Los desórdenes del desarrollo del tubo neural son el segundo mayor grupo de malformaciones congénitas conocidas y con una incidencia de 1/1000 nacidos vivos. El meningomielocele es una de las malformaciones más frecuentes. Se define como una falla en el cierre del tubo neural con herniación de meninges y elementos neurales. El embarazo en estas pacientes es complicado por las deformidades físicas y complicaciones neurológicas secundarias, pudiendo dificultar la técnica anestésica neuroaxial en el trabajo de parto y operación cesárea. Existen escasos reportes de pacientes con meningomielocele en trabajo de parto y analgesia neuroaxial. Presentamos una revisión de esta patología y las técnicas anestésicas utilizadas en el trabajo de parto y operación cesárea de pacientes con antecedente de meningomielocele, basados en un caso clínico del cual participamos.

Neural tube defects are the second most common type of congenital birth defects with an incidence of 1/1000 newborns. Meningomyelocele is one of the most common clinical presentations. It is defined as a failed closure of the neural arch with herniation of the meninges and neural elements. Pregnancy among these patients can be complicated with physical deformity and coexisting neurological defects, which may challenge neuroaxial anesthetic technique in obstetric labor and cesarean delivery. There are few reports involving patients with meningomyelocele in obstetric labor and neuroaxial anesthesia. We discuss some key points of this disease and the anesthetic technique of choice in obstetric labor and cesarean delivery in patients with history of meningomyelocele, based on a case in which we participated.

Efficacy, Tolerability, and Safety of Oxybutynin Chloride in Pediatric Neurogenic Bladder With Spinal Dysraphism: A Retrospective, Multicenter, Observational Study

PURPOSE: Anticholinergics are a key element in treating neurogenic detrusor overactivity, but only limited data are available in the pediatric population, thus limiting the application to children even for oxybutynin chloride (OC), a prototype drug. This retrospective study was designed to provide data regarding the efficacy, tolerability, and safety of OC in the pediatric population (0-15 years old) with spinal dysraphism (SD). MATERIALS AND METHODS: Records relevant to OC use for neurogenic bladder were gathered and scrutinized from four specialized clinics for pediatric urology. The primary efficacy outcomes were maximal cystometric capacity (MCC) and end filling pressure (EFP). Data on tolerability, compliance, and adverse events (AEs) were also analyzed. RESULTS: Of the 121 patient records analyzed, 41 patients (34%) received OC at less than 5 years of age. The range of prescribed doses varied from 3 to 24 mg/d. The median treatment duration was 19 months (range, 0.3-111 months). Significant improvement of both primary efficacy outcomes was noted following OC treatment. MCC increased about 8% even after adjustment for age-related increases in MCC. Likewise, mean EFP was reduced from 33 to 21 cm H2O. More than 80% of patients showed compliance above 70%, and approximately 50% of patients used OC for more than 1 year. No serious AEs were reported; constipation and facial flushing consisted of the major AEs. CONCLUSIONS: OC is safe and efficacious in treating pediatric neurogenic bladder associated with SD. The drug is also tolerable and the safety profile suggests that adjustment of dosage for age may not be strictly observed.

Marcadores cutáneos de disrafia espinal oculta: reporte de 5 casos / Skin markers of occult spinal dysraphism: report of 5 cases

Las disrafias espinales ocultas son patologías caracterizadas por la fusión incompleta del tubo neural, en las que la lesión se encuentra cubierta por piel y no hay exposición del tejido nervioso. El diagnóstico precoz es de gran importancia, ya que la corrección quirúrgica oportuna puede prevenir daño neurológico irreversible. Existen alteraciones cutáneas que se asocian a la presencia de disrafias espinales ocultas. Debido a que en muchos casos estos marcadores cutáneos son la única manifestación inicial de estas alteraciones, es fundamental que el pediatra esté familiarizado con ellos, para poder realizar un estudio diagnóstico y terapéutico adecuado. Dentro de los marcadores cutáneos descritos en la literatura, una combinación de dos o más alteraciones cutáneas congénitas de la línea media constituye probablemente el predictor más importante de disrafia espinal oculta. Lesiones como el lipoma de la línea media y la cola de fauno son los marcadores aislados de mayor riesgo. Actualmente las disrafias espinales ocultas cuentan con cobertura GES, por lo que todo paciente en el que se sospeche el diagnóstico, debe ser derivado a neurocirujano, quien deberá evaluarlo en un plazo máximo de tres meses.

Occult spinal dysraphism are diseases characterized by the incomplete fusion of the neural tube, where the lesion is covered by skin and there is no exposure of nerve tissue. Early diagnosis is very important, because prompt surgical correction can prevent irreversible neurological damage. There are usually skin changes associated with the presence of occult spinal dysraphism. Because in many cases these skin lesions are the only initial manifestation of the disease, it’s essential for the pediatrician to know them well, for achieving a timely and appropriate diagnosis. Among the skin markers described in the literature, a combination of two or more skin lesions of the midline is probably the best predictor of occult spinal dysraphism. Lesions such as lipoma of the midline and faun tail have the highest risk for these disorders. Occult spinal dysraphism have GES financing, so every patient in whom the diagnosis is suspected should be referred to a neurosurgeon, who will perform an evaluation within three months.

Diagnosis of, surgical technique for and treatment results from medullary lipomas associated with spinal dysraphism: experience with 38 patients / Diagnóstico, técnica cirúrgica e resultados nos lipomas medulares associados ao disrafismo vertebral: experiência com 38 pacientes

OBJECTIVE: To observe whether microsurgical removal of medullary lipomas and untethering of the medulla is a safe and efficient procedure. METHOD: A retrospective study was carried out on 38 patients with medullary lipomas associated with spinal dysraphism who underwent operations between January 1986 and January 2008, at the Neurosurgery Department of the Federal Hospital for State Public Servants, in Rio de Janeiro. RESULTS: No deaths occurred in this series, and there was no worsening of motor or bladder function among the patients. Seven individuals presented improvements in their motor deficit. Nine patients presented improvements in bladder function. Three individuals with trophic lesions achieved wound healing. CONCLUSION: Microsurgical removal of medullary lipomas associated with spinal dysraphism proved to be a safe procedure without deaths and with a low morbidity rate, and several patients achieved improvements in their neurological symptoms.

OBJETIVO: Observar se a remoção microcirúrgica dos lipomas medulares e a liberação da medula da tração exercida pelo lipoma é um procedimento seguro e eficaz. MÉTODO: Realizamos estudo retrospectivo de 38 pacientes com lipomas medulares associados ao disrafismo espinhal operados entre janeiro de 1986 a dezembro de 2009 no Serviço de Neurocirurgia do Hospital Federal dos Servidores do Estado do Rio de Janeiro. RESULTADOS: Nessa série não ocorreu nenhum óbito, ou piora da função motora ou vesical em nenhum paciente. Observamos melhora do défice motor em 7 pacientes. Nove pacientes apresentaram melhora da função vesical. Três indivíduos com lesões tróficas apresentaram cicatrização das suas feridas. CONCLUSÃO: A remoção microcirúrgica dos lipomas medulares associados ao disrafismo espinhal se mostrou segura, sem nenhum óbito, com baixa morbidade e com melhora dos sintomas neurológicos em vários pacientes.

Sacral Intraspinal Bronchogenic Cyst: A Case Report

Intraspinal bronchogenic cysts are rare congenital cystic lesions. In all the reported cases, the cysts have been located in the cervical, upper thoracic or thoracolumbar segments. We report the case of an intraspinal bronchogenic cyst in the sacral location. We present the case of a 5-month-old female with a skin dimple in the midline over the sacral vertebra. Magnetic resonance image of the lumbar and sacral vertebra revealed a dermal sinus tract and an epidural cystic mass at the S2 level. The patient underwent the removal of the dermal sinus tract and the cyst. The cystic mass was shown to be connected to the subarachnoid space through a slender pedicle from the dura. The cyst was diagnosed to be a bronchogenic cyst based on the results of the histopathological examination. We conclude that intraspinal bronchogenic cysts may appear in the sacral location.

Detección y tratamiento del mielomeningocele por un equipo interdisciplinario / Detection and treatment of myelomeningocele by interdisciplinary team

El objetivo de este trabajo es presentar la experiencia y los resultados obtenidos por un equipo multidisciplinario en la detección y tratamiento del mielomeningocele, en un período comprendido entre 1995-1998 y comparar los resultados con los datos de un período igual entre 1991-1994. En estos ocho años se produjeron en el Hospital Sardá 54.650 nacimientos; se detectaron 69 mielomeningoceles, con una prevalencia de 1,26 por mil. En el primer período se realizó diagnóstico prenatal en el 41 por ciento de los casos, en el segundo período, el diagnóstico fue realizado en el 83 por ciento de los pacientes. Con la creación del equipo interdisciplinario se unificaron criterios para el diagnóstico, seguimiento, finalización del embarazo y derivación del recién nacido para su tratamiento quirúrgico ulterior. La cesárea abdominal programada permitiría un menor daño sobre la placa neural y evitaría infección. El retraso quirúrgico en el cierre del disrafismo no modificó la evaluación neurológica inicial ni creó factores de riesgo adicionales.

Spinal dysraphism.

Spinal dysraphism (SD) is characterized by maldevelopment of neural tube, notochord, mesoderm and cutaneous ectoderm. Incidence of SD is 2-4/1000 live births. One hundred and nineteen patients operated from January 1991-June 1996 at Department of Neurosurgery, All India Institute of Medical Sciences, were studied. Only 21 patients (17.6%) presented when they were less than one year old and 17 patients came in adult age group (> 16 years). Lumbar and lumbosacral region was the commonly involved site in 81 patients (74.7%). Weakness of lower limbs (74%), difficulty in walking (54%), muscle atrophy (41.2%) were the commonest indicators of motor system involvement. Loss of sensation, trophic ulcer, backache were seen in 45, 14, 10 patients respectively. Cutaneous lipoma (26%), hypertrichiosis (20%), dermal sinus (13.4%), midline dimples (7%) were the important cutaneous markers. Foot and limb deformity was seen in 25% cases. Tethering of cord, syringomyelia & split cord malformation were the most common radiological findings. Only 10% of our patients had hydrocephalus that required shunt. Out on 119 cases operated, 43 improved, Twenty had sensory improvement and 18 showed motor improvement. Fifteen patients regained continence. Twelve patients were lost to follow-up. Sixty-seven patients had no change in neurological status, post-operatively. Six cases deteriorated in terms of motor or sensory deficit and one patient lost continence. CSF leak (8%) and wound infection (6%) were the common complications. Six patients required second surgery as T.P. Shunt (4), rotation flap (1), reexploration and duraplasty (1).

Neurogenic bladder: urodynamic and surgical aspects.

Children with spina bifida often have vesico-urethral dysfunction manifesting either as upper urinary tract deterioration or voiding dysfunction, chiefly incontinence. Surgery of the back and presence of or increase in hydrocephalus may contribute to neuro-urologic worsening; secondary cord tethering and syrinx or hydromyelia may be additional factors coming into play later in life. Urodynamic assessment using simple modalities like uroflowmetry, external sphincter EMG, residual urine volume and cystometry provide data useful to classify patients according to detrusor and sphincter activity. Besides diagnosis, urodynamic studies are useful in guiding therapy of children with vesico-urethral dysfunction, and for their follow-up to detect sub-clinical deterioration. They also help to prognosticate risk of upper tract deterioration and the possible success of measures to contain incontinence. Urodynamic data in thirty one patients with spinal dysraphism who presented to us with urologic symptoms were analysed. Twenty-three children had hyper-reflexic bladders while in the other 8 the bladder was areflexic. 13 children showed upper tract dilatation. The leak point volume was significantly lower in this group of patients compared to those who did not show upper tract dilatation. Our results are comparable to earlier similar studies.

Spina bifida clinic--organisational aspects.

Spina bifida is a complicated problem which affects many systems and demands multidisciplinary attention. The psychosocial aspects of a condition like spina bifida also need to be carefully handled. The ultimate goal is prevention, requiring co-ordinated efforts to establish antenatal diagnosis and screening tests for this anomaly. In our country, the task of solving the difficulties faced by these children at home and in school also falls on our shoulders. All the above responsibilities can only be undertaken if a group of doctors, nurses, social workers, administrators and philanthropists are dedicated to the care and well being of these children. A special clinic helps to create and maintain such a group in order to provide for all, the varied medicosocial needs of a spina bifida patient under one roof.

Hipertricosis localizada: síndrome de la cola del fauno: caso clínico y estudio de signos cutáneos de disrafismo espinal / Localized hypertrichosis: posterior column syndrome: clinical case and study of cutaneous signs of spinal dysraphism

El término disrafia espinal se refiere a un grupo de malformaciones congénitas de la columna vertebral, asociadas a falta de fusión de las estructuras embrionarias de la línea media. Existen distintos grados de intensidad de su expresión clínica, pudiendo ser evidente al nacimiento o presentarse en la forma oculta. Un gran porcentaje de pacientes tienen manifestaciones cutáneas ubicadas en la línea media, orientadoras de una patología neurológica subyacente. Se describe el caso de una paciente de sexo femenino que consultó a los 2 años de edad por una lesión ubicada en zona presacra, consistente en mácula color salmón e hipertricosis localizada desde el nacimiento. Su estudio demostró disrafia espinal y lipoma, cuya excisión quirúrgica fue oportuna, permitiendo excelente evolución y pronóstico

Luxación de cadera en pacientes con espina bífida / Hip dislocation in patients with spina bifida

Spina bifida is commonly associated with hydrocephalus and feet malformations, however its association with congenital dislocation of the hip is not well document. We retrospectively analyzed the medical records of 120 children aged 6 months to 15 years old admited to a rehabilitation center with the diagnosis of spina bifida. Fifty six children (55.4 percent) had dislocation of the hip (36 of 53 women and 20 of 48 men). These figures are higher than those reported for newborns by the Latin-American Collaborative Stud of Congenital Malformations. We conclude that congenital dislocation of the hip is frequent in children with spina bifida

Alteraciones oculares y espina bífida / Ocular disorder and spina bifida

Fueron revisadas 201 historias clínicas con diagnóstico de espina bífida de las cuales, 25 ameritaron evaluación aftalmológica. De ellas, 19 presentaron transtornos en la motilidad ocular como complicación de la hidrocefalia (endotropias 52%, exotropias 8%, nistagmus 8%) presentó algún grado de atrofia óptica