Resonancia magnética fetal en el estudio prequirúrgico de disrafia espinal / Foetal magnetic resonance imaging in the pre-surgical assessment of spinal dysraphism

Abstract. Spinal dysraphism is an important indication for foetal magnetic resonance imaging (MRI), considering the evaluation of potential candidates for intrauterine surgery. Foetal MRI has proved to be superior to 2D and 3D ultrasound for the posterior fossa, brain stem, corpus callosum, and cortical development abnormalities. The description and level of spinal injury, hydrocephalus, magnitude of cerebellum herniation, and associated injuries, are valuable information, which is useful for the preoperative assessment, as well as for the comparison with postnatal studies.

Resumen. Las disrafias espinales son una indicación importante de resonancia magnética fetal (RMF), considerando la evaluación de posibles candidatos para cirugía intrauterina. La RMF ha demostrado ser superior a la ultrasonografía 3D y 2D para la evaluación de la fosa posterior, el tronco cerebral, el cuerpo calloso, y las anormalidades del desarrollo de la corteza cerebral. La descripción y el nivel del daño espinal, el grado de hidrocefalia, la magnitud de la herniación del cerebelo, y la presencia de lesiones asociadas son variables importantes, útiles para la planificación preoperatoria y la comparación con estudios posnatales.

Malformación del cordón espinal hendido con expresión clínica en el período neonatal / Split spinal cord malformation seen at the neonatal stage

La malformación del cordón espinal hendido es una forma rara de disrafia espinal oculta, se reporta que representa el 3 % de los disrafismos ocultos. El mayor porcentaje de ellos es de localización lumbar. En la literatura cubana solo tenemos referencia de 2 pacientes publicados, una adulta y otro caso pediátrico. Se reporta un recién nacido remitido a nuestro centro por presentar meningocele occipital. Se detecta la presencia de una fosita en región sacro-coccígea, hipotonía muscular en miembro inferior derecho, pie varo con poca movilización del miembro, e incontinencia de esfínter vesical y anal. Los estudios de imagen demuestran la presencia de 2 hemimédulas a nivel lumbar, por lo que se confirma que el recién nacido presenta un síndrome de malformación del cordón espinal hendido, una entidad poco común. Presenta, además, la particularidad de haber sido diagnosticada en el período neonatal por exhibir desde su nacimiento manifestaciones clínicas, como consecuencia de esta entidad, aspecto también relevante, pues, habitualmente, la afección expresa la sintomatología más tarde en la vida, o se mantiene asintomática.

Split spinal cord malformation is a rare form of occult spinal dysraphia and is reported in 3 % of occult dysraphisms which are mainly located in the lumbar region. The Cuban literature made reference to two patients with this condition, an adult and a child. This is the case of a male newborn referred to our center because he presented with occipital meningocele. The examination revealed a small fossa in the sacrococcygeal region, muscular hypotonic in his right lower limb, varus foot and little movement as well as anal and vessical sphincter incontinence. Imaging studies show the presence of two hemicords at the lumbar region, so it is confirmed that this newborn infant had split spinal cord malformation syndrome, which is an uncommon entity. It is interesting to note that this malformation was diagnosed at the neonatal phase because of its clinical manifestations, a relevant aspect since this illness generally shows its symptoms in later life or remains asymptomatic.

Espina bífida, prevención, diagnóstico y manejo prenatal / Spina bifida, prevention, prenatal diagnosis and management

Esta revisión de la literatura intenta actualizar conceptos en relación al diagnóstico, prevención y manejo prenatal de la espina bífida. La espina bífida corresponde a la malformación más común secundaria a defectos de cierre del tubo neural. Los recién nacidos con esta condición requieren cirugía en los primeros días de vida y presentas diversos grados de secuelas. En EE.UU afecta a 3,4 por 10.000 nacidos vivos. En Chile, después dela fortificación de la harina con ácido fólico la incidencia de espina bífida es de 3,9 por 10.000 nacidos, 40 por ciento menos que en la etapa pre- fortificación. El diagnóstico puede sospecharse precozmente con ecografía entre 11 y 14 semanas con la evaluación de translucencia intracraneana y confirmarse en el segundo trimestre con este mismo método, buscando signos clásicos. Son útiles estudios complementarios con ecografía 3D y RNM para definir de mejor manera el pronóstico y enfrentamiento. Al tratamiento tradicional quirúrgico postnatal se agrega en los últimos años, en casos seleccionados, la alternativa de cirugía antenatal, con resultados positivos que superarían al tratamiento postnatal. En Chile existe experiencia ya con 26 casos de cirugía fetal de espina bífida. No existe consenso total respecto a la vía de parto más adecuada, aunque la tendencia es hacia la resolución por cesárea.

This literature review attempts to update concepts regarding the diagnosis, prevention and management of prenatal spina bifida. Spina bifida is a congenital malformation resulting from defects in neural tube closure. Infants with this condition require surgery in the first days of their life and show varying degrees of sequelae. In the US affects 3.4 per 10,000 live births. In Chile, after fortification of flour with folic acid incidence of spina bifida is 3.9 per 10,000 births, 40 percent less than in the pre- stage fortification. The diagnosis maybe suspected early by an ultrasound between 11 and 14 weeks with the evaluation of intracranial translucency and confirmed in the second quarter with the same method, looking for classic signs. They are useful complementary studies with 3D ultrasound and MRI to better define prognosis and confrontation. The traditional postnatal surgical treatment is added in recent years, in selected cases, the alternative of antenatal surgery with positive results that exceed the postnatal treatment. In Chile there and experience with 26 cases of fetal surgery for spina bifida. There is no complete consensus regarding the most appropriate route of delivery, although the trend is toward resolution by cesarean section.

Antenatal ultrasound finding of a cystic back mass in a fetus with terminal myelocystocele

An ultrasound of a twenty-three weeks fetus showed a cystic mass having a "cyst within a cyst" arising from the distal spine. The posterior fossa was normal with no hydrocephalus. Postnatal MRI confirmed the presence of terminal myelocystocele [TMC]. TMC should be considered in a fetus with a cystic mass over the lower spine especially when a "cyst within a cyst" appearance is present. We present the antenatal ultrasound and postnatal MRI appearance of TMC. As the definitive diagnosis of TMC may be difficult to make on antenatal ultrasound other cystic masses, such as, meningocele, myelomeningocele and cystic sacrococcygeal teratoma should be considered

Back to the debate: sternalis muscle / Volver al debate: músculo esternal

The sternalis muscle (SM) is an anatomical variant found in the anterior thoracic wall. While the attachment sites of SM are generally agreed upon, the innervation and function of this muscle are not well established. Cadaveric and surgical explorations to date report that SM is innervated by either the pectoral nerves or the anterior branches of the intercostal nerves, or a combination of both. Knowledge of SM is relevant to health care providers specialising in imaging and/or surgery of the anterior thoracic wall. This paper aims to raise awareness in the medical community of the clinical relevance of SM through two case reports and a brief literature review.

El músculo esternal (ME) es una variante anatómica en la pared torácica anterior. Mientras que los sitios de fijación del ME estan acordados, la inervación y la función de este músculo no están bien establecida. Exploraciones cadavéricas y quirúrgicas han informado que el ME está inervado por los nervios pectorales o ramos anteriores de los nervios intercostales, o una combinación de ambos. El conocimiento del SE es relevante para los proveedores de atención de salud especializada de imágenes y/o cirugía de la pared torácica anterior. Este documento tiene como objetivo crear conciencia en la comunidad médica de la relevancia clínica de ME a través de dos reportes de caso y una breve revisión bibliográfica.

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.

Lipoma espinhal associado a seio dérmico congênito: relato de caso / Spinal lipoma associated with congenital dermal sinus: a case report

Os lipomas espinhais são raros, respondendo por 1 por cento de todos os tumores espinhais, estando associados ao disrafismo espinhal oculto em mais de 99 por cento dos casos. Estão divididos em três tipos principais: lipomielomeningocele, lipoma intradural e fibrolipoma do filo terminal. Este relato descreve um caso de lipoma lombossacral congênito associado a estigma cutâneo do tipo seio dérmico lombar congênito.

Spinal lipomas are rare, accounting for 1 percent of all spinal tumors and being associated with occult spinal dysraphism in more than 99 percent of cases. Such lesions are divided into three main types, namely, lipomyelomeningoceles, intradural lipomas, and filum terminale fibrolipomas. The present report describes a case of congenital lumbosacral lipoma associated with cutaneous stigmata of the lumbar dermal sinus type.

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.

Espina bífida / Spinal dysraphism

Trastorno también llamado mielodisplasia, donde existe un desarrollo anormal de los huesos de la columna, de la médula espinal, del tejido nervioso circundante y de las meninges; y que ocurre aproximadamente entre los días 26 a 28 de la gestación. Se describen su etiología, clasificación, aspectos del diagnóstico prenatal, pronóstico y tratamiento, y prevención.

Estudo retrospectivo de casos de disrafismo espinhal no Hospital de Clínicas da Universidade Federal de Uberlândia (HCUFU), no período 1992-2002 / Retrospective study of spine dysraphism at the clinical hospital of the Federal University of Uberlândia, from 1992 to 2002

Objetivou-se avaliar as características clínicas, formas de tratamento e evolução dos pacientesportadores de disrafismo espinhal, atendidos no Hospital de Clínicas da Universidade Federal de Uberlândia (HC-UFU) em um intervalo de onze anos (janeiro de 1992 a dezembro de 2002). Realizou-se um estudo descritivo, identificando os casos analisados conforme sua apresentação clinica (espinha bífida oculta, meningocele e mielomeningocele). As seguintes variáveis foram analisadas: gênero, raça, idade materna, peso de nascimento, época do diagnostico, presença de malformações associadas, tratamento cirúrgico, ocorrência e causa do óbito. Dentre os pacientes analisados, 50,9% eram do sexo feminino e 73,1% da etnia branca. Em relação a idade materna, a maioria (68,5%) encontrava-se entre 20 e 29anos. A media dos pesos dos pacientes ao nascimento foi de 2.938 gramas. Em 81,5% dos casos, o diagnostico dodisrafismo foi feito ao nascimento. Considerando a apresentação clinica, observou-se a ocorrência de mielomeningocele em 94,4% dos casos, de espinha bífida oculta em 3,8% e de meningocele em 2,8%. A localização do disrafismo preponderante foi a lombossacral, correspondendo a 84% dos casos. Dentre as lesões associadas, observou-se maior freqüência de hidrocefalia, Síndrome de Arnold Chiari tipo II e estrabismo. A cirurgia foi realizada em 94,4% dos pacientes. Houve óbito em 9,26% dos casos. O índice de diagnostico intra-utero dos disrafismos espinhais foi baixo,refletindo, possivelmente, a deficiente disponibilidade de equipamentos apropriados e/ou inexperiência dos profissionais nos serviços públicos. Os demais achados foram semelhantes aos da literatura.

The objective was to evaluate the clinical aspects, treatment and evolution of the carriers of spinedysraphism. The charts of the carriers of spine dysraphism (occult spina bifida, meningocele and myelomeningocele),admitted in the hospital at the period were analysed and the following were studied: gender, race, age of the mother,weight at birth, age of diagnosis, associated malformations, surgical treatment, death. 50,9% of the patients were female and 73,1% white; 68,5% of the mother were between 20 and 29 years old. The average weight of the neonates were 2938 g. At 81,5% the diagnosis of dysraphism were made at birth. Myelomeningolcle were present in 94,4% of the patients, occult spina bifida in 3,8% and meningocele in 2,8%. At lombosacral area were found 84% of the malfomation. Amongthe associated lesions were found the Hydrocefalia-, Arnold Chiari II and strabism. Surgical treatment were realized in 94,4% of the children and occurred 9,26% of death. The rate of intra-uterine diagnosis were very low expressing, probably, the deficiency of equipment and specialized assistance at the public health system.

Paciente con espina bífida en seguimiento: caso clínico / Follow up in bifid spine: clinic case

Malformación causada por predisposición genética o factores ambientales, que se produce cuando el extremo caudal del tubo neural (neuroporo posterior) no se cierra y queda expuesta la placa neural. Se presenta el caso de un recién nacido de sexo femenino, al que se cerró el tubo neural en las primeras horas de vida, y presenta una evaluación favorable.

Jaw cyst-Basal cell nevus-Bifid rib syndrome: a case report.

Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system. The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset. These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them. Recurrence in these lesions is the most characteristic feature that has to be taken in consideration while explaining the prognosis to the patient. A case report of a child affected with Gorlin-Goltz syndrome diagnosed, treated and followed at this hospital is presented here.

Congenital spinal anomalies and occult dysraphism

Congenital spinal deformities, particularly congenital scoliosis were reported in the literature to be associated with high incidence of neural axis abnormalities. These abnormalities included tethered cord, syringomyelia, Arnold-Chiari malformation, spinal cord tumours and diastematomyelia. The incidence of occult intraspinal anomalies in patients with congenital scoliosis is still controversial and ranges from about 18% to as high as 58% in different series. As such patients are frequently candidates for corrective surgery, they are theoretically at high risk of neurological deterioration. We reviewed a short series of 30 consecutive patients with congenital spinal deformities, mainly scoliosis, based on clinical presentation, type of spinal deformity and other associated congenital deformities with magnetic resonance imaging [MRI] findings. Based on MRI findings, the incidence of associated spinal cord abnormalities in the current study was much less than that reported in the literature. Magnetic resonance imaging is still the recommended routine investigation and supports in choosing the appropriate surgical procedure

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.

Current status of fetal surgery.

The allure of fetal surgery is the possibility of interrupting in utero progression of an otherwise treatable condition. In spite of advances in prenatal diagnosis and refinements in surgical techniques, this field has not yet got off the ground because the risks to the mother and fetus, during and after the procedure far outweigh the benefits, and the infrastructure required to support such activity is prohibitively expensive. The various surgical conditions in which fetal surgery has been attempted and the present status of this specialty are discussed.

Faun tail naevus: a cutaneous marker of spinal dysraphism.

We describe three cases (one male and two females) of faun tail nevi, which is one of the most important cutaneous marker of spinal dysraphism. One of the patients presented with acro-osteolysis leading to auto amputation of the toes of the left foot, which required operative intervention. This lays stress on the early recognition of lumbar paraspinal skin lesions and early treatment to avoid irreversible sequelae.