Intervenção neurofuncional pediátrica em agenesia do corpo caloso: relato de caso / Pediatric neurofunctional intervention in agenesis of the corpus callosum: a case report

Objetivo: Descrever um relato clínico pré e pós-intervenção neurofuncional num caso de agenesia de corpo caloso. Descrição do caso: Após o nascimento prematuro foi detectada agenesia do corpo caloso e hipoplasia dos ventrículos laterais e vérmis cerebelar. Aos dois anos iniciou a intervenção proposta neste estudo. Uma avaliação neurofuncional, além da Medida da Função Motora Grossa e o Sistema de Classificação da Função Motora Grossa, foi utilizada para obter o desempenho funcional da criança. Na avaliação inicial havia ausência de reações de equilíbrio e de transferências posturais, e déficits no controle manual e de tronco. A intervenção foi realizada com enfoque na função, priorizando o controle postural e a orientação da familia para continuidade do tratamento em ambiente domiciliar. Após a intervenção houve melhora das reações corporais, controle postural e aquisição de movimentos de mãos e membros. A intervenção também mostrou melhora no desempenho funcional. Comentários: O controle postural e as transferências de posições foram beneficiadas por intervenção neurofuncional nesse paciente com agenesia de corpo caloso. O enfoque baseado na função com atividades que envolvem fortalecimento muscular e treinamento das reações de equilíbrio influenciaram a aquisição do comportamento motor mais seletivo...

Objective: To describe a clinical report pre- and post-neurofunctional intervention in a case of agenesis of the corpus callosum. Case description: Preterm infant with corpus callosum agenesis and hypoplasia of the cerebellum vermis and lateral ventricles, who, at the age of two years, started the proposed intervention. Functional performance tests were used such as the neurofunctional evaluation, the Gross Motor Function Measure and the Gross Motor Function Classification System. In the initial evaluation, absence of equilibrium reactions, postural transfers, deficits in manual and trunk control were observed. The intervention was conducted with a focus on function, prioritizing postural control and guidance of the family to continue care in the home environment. After the intervention, there was an improvement of body reactions, postural control and movement acquisition of hands and limbs. The intervention also showed improvement in functional performance. Comments: Postural control and transfers of positions were benefited by the neurofunction intervention in this case of agenesis of the corpus callosum. The approach based on function with activities that involve muscle strengthening and balance reactions training, influenced the acquisition of a more selective motor behavior...

Seizure characteristics in Aicardi syndrome

We are describing a one year old Bahraini girl with Aicardi syndrome; she has agenesis of the corpus callosum, inter hemispheric cyst, neuronal migration disorder, ocular abnormalities and infantile spasm. She presented initially with focal seizure which later evolved into infantile spasm, her seizures were intractable to different anticonvulsant medications except for Vigabatrin which reduced her seizure episodes dramatically

Images in clinical medicine congenital neural malformations related to their embryological background

Congenital neural malformations are complex anomalies, which stem from an abnormality in the embryological development of the nervous system. The development of the nervous system begins by the formation of the neural tube and its subsequent closure. The failure of closure results in neural tube defects [NTD]. Defect in the formation of prosencephalon or rhornbencephalon will result in holoprosencephaly or Dandy walker complex respectively. The formation of neuroblasts and their migration to cerebral cortex may be altered by many neuronal migration disorders, Lissencephaly, schizencephaly, and heterotopic gray matter are the most prominent. The objective of the study is relating congenital neural malformations to their corresponding embryological background, and so helping in better understanding the time and the way of the occurrence of such anomalies

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

Case report: agenesis of corpus callousum

Corpus callosum is the biggest comisure of interventricula. The main etiology of agenesis of corpus callousum is the failure of programmed cellular death. This disease comprises a heterogenic group of disorders which has a wide range of presentations from medical and neurological symptoms to asymptomatic patients with normal intelligence. Diagnosis of this disease can be made by use of CT and MRI. The disease can be transmitted via autosomal dominant or X-linked genes and can be associated with chromosomal disorders such as trisomy of 8 and 18 and different metabolic disorders. There is no standard therapy for this disorder. Prognoses of the patients are variable and usually the disorder does not lead to death. The patient was admitted, for the first time, to the hospital when he was 3 day old because his mother had a sonography at the 28th week of pregnancy which was compatible with a cyst in the brain of her fetus. After delivery the parents of the patient referred to the pediatric clinic for further evaluation of their neonate. After examination of the patient and paraclinical studies, the patient was diagnosed as a case of agenesis of corpus callousum. Neurological examination of the patients was within normal limits. The growth indices of the patient were normal and there was no evidence of any neurological, metabolic or chromosomal disorders on clinical and paraclinical grounds. Agenesis of corpus callosum is a rare disorder which can be associated with hypotonia, seizure, hydrocephalus, acidosis, hypoglycemia, hepatomegaly, increased serum ammonia, chromosomal disorders and ophthalmologic diseases such as cataract, optic nerve atrophy and But no evidence of any above- mentioned disorders was found in our patient on clinical and paraclineal grounds, which indicates a wide range of clinical signs and symptoms in this disorder

A Case of Acrocallosal Syndrome with Developmental Delay: A case report

Agenesis of the corpus callosum is a frequent anomaly that presents with a spectrum of clinical features and exhibits variable findings in neurological studies. Callosal agenesis may be an isolated anomaly or may be syndromic as part of more extensive malformations, metabolic and genetic disorders. We experienced a case of agenesis of corpus callosum with developmental delay, diagnosed to acrocallosalsyndrome. Acrocallosal syndrome is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation. We here reported a case of acrocallosal syndrome with the review of literatures.