Perfil de crianças com mielomeningocele em hospital de referência - Rio de Janeiro / Profile of children with Myelomeningocele in a Reference Hospital - Rio de Janeiro - Brazil

Introdução: A mielomeningocele (MMC) é uma das formas de disrafismo que resulta do defeito de fechamento da porção posterior dotubo neural, durante a quarta semana de gestação. Objetivos: Traçar o perfil epidemiológico dos recém-nascidos portadores de (MMC) no IFF/FIOCRUZ, encaminhados ao setor de Fisioterapia Motora. Material e Métodos: Estudo transversal, descritivo, institucional, noqual foram analisados prontuários de pacientes portadores de (MMC), entre janeiro de 2007 e junho de 2008. Resultados e Discussão: Houve predomínio do sexo masculino. Em 14 criancas detectou-se a presença de hidrocefalia. Quatro crianças apresentaram outras malformaçõesdo sistema nervoso, como disgenesias do corpo caloso. A maioria dos pacientes apresentou alterações ortopédicas, sendo a mais freqüente o pétorto congênito. Os maiores problemas estão relacionados com a possibilidade de levantar, deambular e controlar voluntariamente os sistemasvesical e intestinal. Conclusão: O tratamento de crianças com mielomeningocele requer intervenção clínica e cirúrgica precoces, além detratamento reabilitativo.

Introduction: Myelomeningocele (MMC) is one of the forms of dysraphism that results from a defect in the closure of the posterior portion/section of the neural tube, during the fourth week of gestation. MMC affects the nervous, musculoskeletal and urogenital systems. Objectives: To map the epidemiological profile of the newborn with MMC in the IFF/FIOCRUZ, sent to the Physical Therapy service. Material and Methods: A transversal, descriptive and institutional study, in which the medical records of patients with MMC from January 2007 to June 2008 have been analyzed. Results and Discussion: There was predominance of the male sex. In 14 children the presence of hydrocephalus was detected. Four children presented other malformations of the nervous system, such as corpus callosum dysgenesis. The majority of the patients showed orthopedic changes, the most frequent of which were congenital foot deformities. The greatest problems were related to the possibility of standing, walking and voluntarily controlling the bladder and bowel systems. Conclusion: The treatment of children with MMC requires early clinical and surgical intervention, as well as rehabilitation treatment.

Pattern of childhood neuronal migrational disorders in Oman

To record the pattern of different neuronal migrational disorders [NMD] and their associated neurological conditions. The data were collected at the Child Neurology Services of Sultan Qaboos University Hospital, Oman, from January 1993 to September 2006 from all children with psychomotor delay and epilepsy, who underwent brain imaging [mostly MRI]. The MR imaging was used for the diagnosis of a neuronal migration anomaly. There were 86 cases of NMD. Corpus callosum agenesis and lissencephaly/pachygyria formed the major group. There were 48 cases of corpus callosum agenesis, and 16 cases of lissencephaly/pachygyria. Other disorders were 10 cases of heterotopias, 5 schizencephaly, 3 holoprosencephaly, 2 polymicrogyria, and one each of hemimegalencephaly, and hydranencephaly. Developmental delay was the most common associated finding noted in 80 [93%] cases. Sixty-seven [77.9%] cases had motor deficit. Forty out of 86 [46.5%] cases had epilepsy. Partial/partial complex seizures were the most common at 13 out of 40 [32.5%]. Syndromic seizures were seen in 11 out of 40 [27.5%] cases. The seizures were controlled in only 3/40 [7.5%] cases. The NMD constitute a significant number of child neurology patients with psychomotor delay and intractable epilepsy. Exogenic and genetic factors affecting the early embryonic and fetal development from sixth to twenty-sixth weeks of gestation result in NMD. Recent genetic studies are defining the underlying mechanism and these studies will help in early diagnosis and possible prevention of NMD

Rhombencephalosynapsis: association with single umbilical artery.

A 6-year-old girl who presented with developmental delay and non-progressive ataxia is described. MRI of brain showed agenesis of cerebellar vermis with fusion of cerebellar hemispheres and dentate nuclei. MRI findings were characteristic of rhombencephalosynapsis. Partial agenesis of corpus callosum and absent septum pellucidum were also seen. The child had also been noted to have a single umbilical artery at birth: a hitherto undescribed association.

Síndrome de Aicardi: relato de caso e achados radiológicos / Aicardi syndrome: a case report and radiologic findings

Neste trabalho relatam-se os achados da síndrome de Aicardi, um distúrbio de etiologia desconhecida composta por espasmos múltiplos, lacunas coriorretinianas e agenesia do corpo caloso. Os autores apresentam um caso desta síndrome, com clínica e achados de ressonância magnética característicos. A doença, apesar de considerada rara, apresenta achados de imagem característicos. Nos últimos anos, a importância da ressonância magnética tem aumentado expressivamente,uma vez que demonstra outros achados além da agenesia do corpo caloso, tornando o papel do radiologista muito importante na suspeição diagnóstica desta enfermidade.

The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a caseof Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstratingother findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease.

Neuronal migration disorder; a case report of subcortical band heterotopia associated with corpus callosum agenesis

Subcortical band heterotopia [SBH] or 'double cortex' is a congenital brain abnormality that results from aberrant migration of neurons during development of the cortex. MRI shows a continuous band of heterotopic gray matter located between the cortex and ventricular walls, separated from them by a thin layer of white matter. The condition is quite rare, found predominantly in females, and is occasionally familial with an X-linked dominant inheritance. Corpus callosum agenesis is another brain abnormality, more common than SBH, diagnosed during neurological examinations for developmental delay. We report a 6-month-old boy with SBH and corpus callosum agenesis associated with uncommon clinical and radiological findings such as polymicrogyria and periventricular cystic area

Total agenesis of the corpus callosum in a patient with childhood-onset schizophrenia

The hypothesis that schizophrenia involves aberrant inter-hemispheric communication has a long pedigree, however its precise role remains unclear. We therefore report the case of a total agenesis of the corpus callosum in a 21-year-old man with childhood-onset schizophrenia. The presence of schizophrenia with very early onset on absence of corpus callosum offers an opportunity to examine neurodevelopmental model and theories regarding to interhemispheric communication in the pathogenesis of psychosis.

A hipótese que a esquizofrenia envolve comunicação inter-hemisférica aberrante possui longa tradição, entretanto seu papel permanece incerto. Nós relatamos um caso de agenesia total do corpo caloso em um homem de 21 anos portador de esquizofrenia de início na infância. A associação de esquizofrenia de início precoce na ausência de corpo caloso oferece uma oportunidade para exame do modelo neurodesenvolvimental e de teorias que envolvem a comunicação interemisférica na patogênese da psicose.

Ventriculomegalia: diagnóstico antenatal en un Centro de Salud Familiar / Ventriculomegaly: antenatal diagnosis in a Family Health Center

Se presenta un caso de ventriculomegalia diagnosticado en un establecimiento de atención primaria, su derivación, su posterior asociación con una agenesia del cuerpo calloso y seguimiento postnatal inicial.

Atypical Aicardi's syndrome on two sisters not twins

Aicardi's syndrome is a rare genetic disorder characterized by heterogeneity of clinical findings and prognosis. The characteristic features include infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This syndrome is seen almost exclusively in female and is often sporadic. However, some familial cases were reported in the literature. The prognosis is unpredictable. It is grave in most of cases with severe psychomotor retardation. The authors report two sisters not twins, from a consanguineous familily with atypical Aicardi syndrome diagnosed at 2 months of age. Clinical feautures were infantile spasms, partial agenesis of the corpus callosum and atypical ophthalmologic abnormalities. Evolution was marked by severe psychomotor retardation, scoliosis and severe recurrent pneumonia entailing the death of one of the patients at 3 years of age

Callosal agenesis and Open lip Schizencephaly.

We report a case of a new born who presented with neonatal seizures; and who had coexistence of a Corpus Callosum Agenesis with a bilateral Open lip Schizencephaly and a Dandy Walker malformation. The investigations for an underlying etiology, however was futile.

Unbalanced X; autosome translocation.

Unbalanced X; autosome translocation can result in multiple congenital abnormalities/mental retardation syndrome due to chromosomal imbalance. Here is described a patient with developmental delay, microcephaly, agenesis of corpus callosum, spasticity, seizures and dysmorphism as a result of meiotic malsegregation of balanced X; autosome translocation in mother. Present case signifies the importance of chromosomal analysis in a patient with developmental delay/ mental retardation and discuss lyonization in cases with X; autosome translocation.

Aicardi syndrome: a report of five Indian cases.

Five Indian cases of Aicardi syndrome, aged 1-13 years and all with the classic triad of infantile spasm, corpus callosal agenesis and chorioretinal lacunae, were presented. The purpose of this report was to demonstrate the clinical, electroencephalographic (EEG) and radiological spectrum and the treatment outcome of this disorder among the Indians. None of the patient had any family history of similar illness. All had profound psychomotor impairment with no meaningful speech development. There were microphthalmia in 2, optic disc coloboma in 1, interhemispheric cyst in 1, periventricular heterotopia in 2 and thoracolumbar kyphoscoliosis in 2 cases. They all had early onset epilepsy and there were multiple types of seizures. Two cases (40%) had the characteristic dissociated burst-suppression pattern in EEG. Two cases whose antiepileptic medications included vigabatrin had complete control of seizure.

Acrocallosal syndrome.

Presented here is a case of a 8 year old boy with typical clinical manifestations of Acrocallosal syndrome. The characteristic features of this syndrome are craniofacial abnormalities, distinctive digital malformation, mental retardation. The clinical and major nosologic aspects of this condition are discussed.

Sirenomelia with agenesis of corpus callosum

Sirenomelia is a very rare anomaly presented with fusion of the lower limbs. Genitourinary, neural tube, and vertebral anomalies are found in most cases. We report a case of sirenomelia with agenesis of corpus callosum, which has not been reported previously

Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia

Considerando a raridade da displasia frontonasal (DF) e os poucos estudos sobre esta condição clínica usando ressonância magnética (RM), descrevemos os resultados da análise angular do corpo caloso em 18 indivíduos com DF (7 homens, 11 mulheres), usando um método de fácil reprodução. O Grupo I foi formado por 12 indivíduos com DF isolada e o Grupo II, por 6 portadores de DF sindrômica de etiologia desconhecida. Não houve diferença entre os grupos, e os dados são apresentados em conjunto. Comparando com o grupo controle, houve aumento significativo do ângulo alfa e redução dos ângulos beta e gama (p<0,05) Os ângulos alfa e gama expressam a relação entre a porção anterior do corpo caloso e do piso do 4º ventrículo. Esses achados radiológicos poderiam ocorrer secundariamente à falência do desenvolvimento da cápsula nasal. Assim, as anomalias angulares no corpo caloso poderiam ser um achado usual, e não fortuito, na DF.

An Atypical Case of Aicardi Syndrome with Favorable Outcome

Aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye movement and seizures of the complex partial type and myoclonic type. MRI pictures of the patient revealed the presence of genu associated with agenesis of the rest of corpus callosum. A funduscopic examination revealed bilateral small, solitary, pale areas with sharp borders, some of which had minimal surrounding pigmentation (chorioretinal lacunae), especially clustered around the disc, and they were more prominent on the left side. We report here on the unusual findings of a complex partial seizure, myoclonic seizure and the atypical EEG finding in addition to the well-known characteristic clinical and imaging findings of a patient with Aicardi syndrome.

Alterações anátomo-funcionais do sistema nervoso central no transtorno autístico: um estudo com RNM e SPECT / Anatomical and functional abnormalities of central nervous system in autistic disorder: a MRI and SPECT study

Apresentamos um estudo das alterações anátomo-funcionais do sistema nervoso central (SNC) de pacientes com transtorno autístico (TA), através da ressonância nuclear magnética (RNM) e da tomografia computadorizada por emissão de fóton único (SPECT). Foram estudados 24 pacientes, sendo 15 (62,5 por cento) do sexo masculino e 9 (17,5 por cento) do feminino, com idade média de 9 anos. Todos os pacientes foram submetidos à RNM e apenas em 19 foi realizado o SPECT. Dos pacientes que realizaram RNM, 75 por cento apresentaram alterações anatômicas e dos que realizaram o SPECT todos apresentaram alterações funcionais. As alterações anatômicas estavam preferencialmente localizadas no corpo caloso (25 por cento), septo pelúcido (15,63 por cento), ventrículos cerebrais (12,55 por cento), cerebelo (9,38 por cento), lobo temporal (6,25 por cento), lobo occipital (6,25 por cento) e hipocampo (6,25 por cento). As alterações funcionais predominaram no lobo frontal (53,13 por cento), lobo temporal (28,13 por cento) , lobo parietal (15,63 por cento) e nos núcleos da base (3,13 por cento). A presença de alterações anátomo-funcionais do SNC não são prioritárias para o diagnóstico, o qual deve ter sempre uma validação clínica

Disgenesia do corpo caloso e más-formações associadas: achados de tomografia computadorizada e ressonância magnética / Dysgenesis of the corpus callosum and associated malformations: computed tomography and magnetic resonance imaging findings

O termo disgenesia do corpo caloso refere-se a uma má-formação deste com origem na embriogênese do telencéfalo. O relato analisa os achados de tomografia computadorizada e ressonância magnética em 11 pacientes com disgenesia calosa e em um caso de corpo caloso normal com lipoma associado. Esta pode ser distinguida em três grupos: agenesia total (três casos), agenesia parcial (seis casos) e hipoplasia (dois casos). Anomalias associadas foram observadas em nove casos, incluindo má-formação de Chiari tipo II (um caso), esquizencefalia (um caso), cisto inter-hemisférico (dois casos), heterotopia nodular (um caso), cisto de Dandy-Walker (um caso) e lipoma do corpo caloso (quatro casos). Este artigo demonstra um espectro destes distúrbios, auxiliando na sua interpretação diagnóstica.

Callosal dysgenesis is a malformation of the corpus callosum with origins in the embryogenesis of the telencephalon. We reviewed the computed tomography and magnetic resonance imaging findings of 11 patients with callosal dysgenesis and one patient with normal corpus callosum associated with a lipoma. The patients were divided into three distinct groups: total agenesis (three patients), partial agenesis (six patients) and hypoplasia (two patients). Associated abnormalities were observed in nine patients, including Chiari II malformation (one patient), schizencephaly (one patient), interhemispheric cyst (two patients), Dandy-Walker cyst (one patient), nodular heterotopy (one patient) and lipoma of the corpus callosum (four patients). This paper presents a review that may contribute to the diagnosis of these disorders

Schinzel acrocallosal syndrome.

Acrocallosal syndrome (ACLS), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and absence of corpus callosum, is a rare genetic disorder that is apparent at birth. Although autosomal recessive inheritence has been suggested, ACLS often appears to occur sporadically. Typical characteristics of ACLS are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. It has not been reported from India so far. This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome.