ABSTRACT
Schizencephaly is an extremely rare developmental birth defect or malformation characterized by abnormal clefts in the cerebral hemispheres of the brain, extending from the cortex to the ventricles, which may be unilateral or bilateral. This case report describes the general characteristics of a psychological home care program, reporting the main theoretical and technical elements in a 12-years-old case of type II Schizencephaly. The aims of the psychological home treatment were acceptance of the new treatment reality, a reduction in aggression and anxiety, and psychological support for the patient and family. In the psychological home care, patient's awareness of illness was developed, along with family orientation, psychoeducation, relaxation techniques, and cognitive distraction. It can be observed that a significant improvement in the affective and emotional state was achieved within the patient's clinical framework.
A esquizencefalia é um defeito ou malformação congênita do desenvolvimento extremamente raro, caracterizado por fendas anormais nos hemisférios cerebrais, estendendo-se do córtex aos ventrículos, que podem ser unilaterais ou bilaterais. Este relato de caso descreve as características gerais de um programa de atenção psicológica domiciliar, relatando os principais elementos teóricos e técnicos de um paciente de 12 anos de idade com esquizencefalia tipo II. Os objetivos do tratamento psicológico domiciliar eram a aceitação da nova realidade do tratamento, a redução da agressividade e da ansiedade e o apoio psicológico ao paciente e à família. No atendimento psicológico domiciliar, a consciência do paciente sobre a doença foi desenvolvida, juntamente com a orientação familiar, psicoeducação, técnicas de relaxamento e distração cognitiva. Pode-se observar que houve melhora significativa do estado afetivo e emocional no quadro clínico do paciente.
Subject(s)
Humans , Female , Child , Psychotherapy/methods , Schizencephaly/diagnosis , Schizencephaly/therapy , Home Care Services , Patient Care Team , Professional-Family Relations , Relaxation Therapy , Treatment OutcomeABSTRACT
RESUMEN La esquizencefalia es una malformación poco común del sistema nervioso central, caracterizada por la presencia de hendiduras encefálicas que se extienden desde la superficie pial hasta los ventrículos laterales. Habitualmente se asocia a otras comorbilidades, como parálisis cerebral infantil y crisis convulsivas, que afectan de manera significativa la calidad de vida, el desenvolvimiento social y la adaptación ambiental de los pacientes. Es una entidad cuyo tratamiento es sintomático, por lo cual el abordaje se enfoca en el control de las convulsiones y en la rehabilitación, la cual minimiza el retraso neuro-psicológico que pueden presentar estos pacientes. Se reporta el caso de un paciente pediátrico con esquizencefalia de labio abierto (el subtipo clínico que cursa con peor pronóstico) con una evolución clínica favorable, libre de crisis convulsivas y sin necesidad de farmacoterapia. Actualmente, después de haber realizado un proceso de rehabilitación adaptada y temprana, presenta un déficit neurológico mínimo, con un desarrollo motor y psicológico completo, y un desenvolvimiento social satisfactorio.
SUMMARY Schizencephaly is an uncommon malformation of the central nervous system, characterized by the presence of encephalic clefts that extend from the pial surface to the lateral ventricles. It is usually associated with other comorbidities, such as infantile cerebral palsy and seizures, which significantly affect the quality of life, social development and environmental adaptation of patients. It is an entity whose treatment is symptomatic, for which the approach focuses on the control of seizures and rehabilitation, which minimizes the neuro psychological delay that these patients may present. We report the case of a pediatric patient with open lip schizencephaly (the clinical subtype with the worst prognosis) with a favorable clinical course, free of seizures and without the need for pharmacotherapy. Currently, after having carried out an adapted and early rehabilitation process, it presents a minimal neurological deficit, with a complete motor and psychological development, and a satisfactory social development.
Subject(s)
Cerebral Palsy , Schizencephaly , Neurological RehabilitationABSTRACT
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. RESULTS: Fifteen male and 12 female patients with a mean age of 29.3±17.6 months were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with Möbius syndrome. CONCLUSION: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.
Subject(s)
Child , Female , Humans , Male , Brain , Comparative Genomic Hybridization , Cytogenetics , Developmental Disabilities , Diagnostic Tests, Routine , Epilepsy , Hydranencephaly , Karyotyping , Muscle Hypotonia , Rett Syndrome , SchizencephalyABSTRACT
El dolor es un problema frecuente y significativo en niños portadores de encefalopatía crónica con trastorno cognitivo. Esta población es muy vulnerable a la falta de reconocimiento y tratamiento del dolor. Habitualmente pueden presentar múltiples fuentes y mecanismos de dolor, nociceptivo como resultado de lesión tisular e inflamación y neuropático por lesión, disfunción o alteración del sistema nervioso. Pueden asociar problemas como: espasticidad, disautonomías, distonías, considerados fuentes adicionales de incomodidad, que deben ser tenidos en cuenta para guiar el tratamiento. El uso de escalas validadas puede contribuir a una mejor objetivación de la intensidad. Un protocolo basado en guías internacionales que integre medidas farmacológicas, apoyado por terapias no farmacológicas conforma una estrategia integral para el alivio de dolor en esta población.
Pain is a common and significant problem in children with chronic encephalopathy with cognitive impairment. This population is very vulnerable to the lack of recognition and undertreatment of pain. Usually they may have multiple sources and mechanisms of pain, nociseptive as a result of tissue damage and inflammation and neuropathic injury, dysfunction or disorder of the nervous system. They may have associated problems such as spasticity, dysautonomia, dystonias, considered additional sources of discomfort, which must be included to guide treatment. The use of validated scales can contribute to a better evaluation of intensity. A protocol based on international guidelines that integrates pharmacological measures, supported by non-pharmacological therapies presents an integral strategy for the relief of pain in this population.
Subject(s)
Humans , Male , Adolescent , Brain Diseases/complications , Brain Diseases/etiology , Cognition Disorders/etiology , Acute Pain , Acute Pain/etiology , Schizencephaly/complications , Nonverbal CommunicationABSTRACT
OBJETIVOS: As desordens do desenvolvimento cortical (DDC) constituem a segunda causa de epilepsia refratária. Diversas patologias estão incluídas nas DDC. Seu diagnóstico foi facilitado com o desenvolvimento na neuroimagem. MÉTODOS: No presente artigo, apresentamos sete casos divididos em três grupos, de acordo com o mecanismo de produção das DDC: 1) anormalidades da proliferação e diferenciação de neurônios da glia; 2) anormalidades de migração neuronal; 3) anormalidades na organização neuronal. A investigação consistiu em história mais exame neurológico, avaliação neuropsicológica, ressonância magnética e eletrencefalograma. RESULTADOS E CONCLUSÕES: Três pacientes apresentaram displasia cortical focal, dois apresentaram heterotopia em banda, um paciente apresentava lisencefalia e uma apresentava esquizencefalia. Todos os pacientes apresentavam epilepsia de difícil controle. Malformações corticais constituem um grupo heterogêneo de causas de epilepsia de difícil controle. É importante para o manejo médico que as diversas formas de malformações corticais sejam conhecidas e diagnosticadas, o que foi facilitado pelo advento da ressonância magnética.
OBJECTIVES: Cortical development disorders (CDD) are the second cause of refratary epilepsy. Various patologies are included in the CDD. The diagnosis was easy with the continuous development of the neuroimaging. METHODS: In the present paper we show seven cases divided in three groups, accourding with the mecanism of production of the CDD: 1) proliferation and diferentiation abnormalities of the glial cells; 2) abnormalities of the neuronal migration; 3) abnormalities of the neuronal organization. The investigation consisted in story and neurological examination, neuropsicological avaliation, magnetic ressonance imaging and eletroencephalogram. RESULTS AND CONCLUSION: Three patients had focal cortical dysplasia; two had heterotopic band, one patient had lissecephaly and another had schizencephaly. All the patients had refractory epilepsy. Cortical malformations are a heterogeneous group of refractory epilepsy. Knowing and diagnosing these different types of cortical malformations are important steps for their treatment, and were facilitated by de advent of magnetic resonance imaging.