ABSTRACT
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.
Subject(s)
Humans , Male , Female , Infant, Newborn , Congenital Abnormalities/etiology , Corpus Callosum/abnormalities , Meningomyelocele/epidemiology , Meningomyelocele/physiopathology , Meningomyelocele/therapy , Spinal Dysraphism , Talipes , Brazil , Cross-Sectional Studies , Hydrocephalus/etiology , Nervous System MalformationsABSTRACT
Antecedentes: Son muchos los genes que se han implicado en la diferenciación testicular, cuyas alteraciones dan cuadros de trastornos de la diferenciación sexual y cariotipo 46XY. Caso clínico: Recién nacido con hipospadias interescrotal, gónadas palpables y pene hipoplásico. Cariotipo 46XY. Ecografía abdominal: testes y sin restos müllerianos. Buena respuesta al test corto de gonadotropinas. Al año presenta retraso psicomotor, hipotonía. Resonancia magnética con atrofia de sustancia blanca frontotemporal y disminución del cuerpo calloso. Biopsia testicular compatible con disgenesia gonadal. Dada la situación intersexual al nacimiento, el retraso psicomotor y la presencia de dismorfias faciales se solicita cariotipo de alta resolución: deleción 46, XY, del(9p)(p23-pter).ish tel (9p-). Comentarios: Son muchos los genes implicados en la diferenciación testicular, algunos de ellos también influyen sobre el desarrollo de otros tejidos. En el brazo corto del cromosoma 9 se encuentran dos genes, DMRT1 y DMRT2, implicados en la diferenciación sexual, cuyas alteraciones también han sido descritas como causantes de retraso mental. En la evaluación de los trastornos de la diferenciación sexual son muy importantes los signos acompañantes para poder orientar el estudio genético (AU)
Background: Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. Case: We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, psychomotor retardation and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). Discussion: Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study (AU)
Subject(s)
Humans , Male , Infant, Newborn , Gonadal Dysgenesis/complications , Gonadal Dysgenesis/diagnosis , Intellectual Disability/complications , Corpus Callosum/abnormalities , Corpus Callosum/pathology , Sex Differentiation , Hypospadias/complications , Gonadal Dysgenesis/therapy , Gonadal Dysgenesis/genetics , Gonadal Dysgenesis, 46,XY/diagnosis , Gonadal Dysgenesis, 46,XY/genetics , AbdomenABSTRACT
Introducción: Las alteraciones parciales en el desarrollo del cuerpo calloso (2º trimestre de gestación) son hallazgos ocasionales en las pruebas de neuroimagen en la esquizofrenia. Caso clínico: Presentamos un caso clínico de un paciente esquizofrénico con sonorización del pensamiento y alucinaciones cenestésicas orofaciales cuya RNM mostró una agenesia parcial de la rodilla del cuerpo calloso. Conclusiones: Se discuten posteriormente las implicaciones clínicas, neuropsicológicas y fisiopatológicas a la luz del estado actual de la investigación en esta área y de la hipótesis etiopatogénica del neurodesarrollo en la esquizofrenia
Introduction: Partial abnormalities in the neurodevelopmental of corpus callosum (3-6th month of pregnancy) are occasionally found studies of schizophrenia. Clinical report: We presented a case-report of a schizophrenic patient with auditory-verbal thinking and cenestetic, oral hallucinations. The MRI found a partial agenesis of the corpus-callosum genu. Conclusion: Clinical, neuropsychological and physiopathological implications of this finding are discussed, emphasyzing on the current state of knowledge in this area and its relationship with the neurodevelopmental model of schizophrenia (AU)
Subject(s)
Humans , Male , Adult , Schizophrenia/complications , Schizophrenia/diagnosis , Schizophrenia/therapy , Corpus Callosum/abnormalities , Social Behavior , Schizophrenia/history , Schizophrenia/physiopathology , Depression/etiology , Depression/psychology , Depression/therapy , Antipsychotic Agents/administration & dosage , Antipsychotic Agents/pharmacokinetics , Antipsychotic Agents/therapeutic useABSTRACT
Caso clínico. Se presenta el caso de una lactante con displasia septóptica o síndrome de Morsier, una entidad del sistema nervioso central que sólo puede confirmarse por medio de neuroimágenes. Este síndrome consiste en la hipoplasia de uno o ambos nervios ópticos, ausencia de septo pelúcido, agenesia de cuerpo calloso, atrofia cerebelosa, dilatación ventricular y quistes cerebrales, junto con neurohipófisis ectópica, aplásica o hipoplásica. Conclusiones. Se trata de una enfermedad infrecuente y de etiología poco clara, en la que predomina la hipótesis genética. No se conoce el mecanismo de transmisión hereditaria. De forma característica, la edad materna suele ser baja; es conocido que en más de la mitad de los niños afectados eran hijos de madres con edad inferior a 20 años. Puede acompañarse de daño hepático y es de gran importancia su diagnósticotemprano e instauración de tratamiento. El pronóstico en general es bueno
We report the case of an infant with septo-optic dysplasia, or Morsiers syndrome, which is a conditionaffecting the central nervous system that can only be confirmed by means of neuroimaging. This syndrome involves hypoplasia of one or both optic nerves, absence of septum pellucidum, agenesis of the corpus callosum, cerebellar atrophy, ventricular dilatation and brain cysts, together with ectopic, aplastic or hypoplastic neurohypophysis. Conclusions. It is an infrequent disease and its causation is uncertain, although the predominant hypothesis suggests a genetic foundation. The mechanism by which it is transmitted by inheritance is unknown. The age of the mother is characteristically low; it is known that over half the children affected by this condition were born to mothers below the age of 20. It may be accompanied by liver damage and it is essentialto establish a diagnosis and treatment as early as possible. Prognosis is general favourable
Subject(s)
Humans , Female , Infant , Septo-Optic Dysplasia/diagnosis , Zona Pellucida , Corpus Callosum/abnormalities , Optic Nerve Diseases/diagnosis , Pituitary Diseases/diagnosisSubject(s)
Child , Humans , Male , Corpus Callosum/abnormalities , Hyperhidrosis/complications , Hypothalamic Diseases/complications , Hypothermia/complications , Hypothyroidism/complications , Cyproheptadine/therapeutic use , Hyperhidrosis/drug therapy , Hypothalamic Diseases/drug therapy , Hypothermia/drug therapy , Hypothyroidism/drug therapy , Magnetic Resonance Imaging , Syndrome , Serotonin Antagonists/therapeutic use , Thyrotropin-Releasing Hormone/deficiency , Thyrotropin/deficiency , Thyroxine/therapeutic useABSTRACT
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.
Subject(s)
Humans , Male , Infant, Newborn , Choroid/abnormalities , Corpus Callosum/abnormalities , Spasms, Infantile/diagnosis , Magnetic Resonance Spectroscopy , Retina/abnormalities , Aicardi SyndromeABSTRACT
No disponible
Subject(s)
Humans , Male , Middle Aged , Botulinum Toxins, Type A/therapeutic use , Hypothermia/therapy , Hyperhidrosis/therapy , Hypothermia/etiology , Corpus Callosum/abnormalitiesABSTRACT
Objetivo: Analizar y comparar la casuística de nuestro hospital con los casos descritos en la literatura de Síndrome de Aicardi. El Síndrome de Aicardi es una rara enfermedad genética que afecta a las mujeres, y se caracteriza por agenesia del cuerpo calloso asociada a otras malformaciones del sistema nervioso central y lagunas coriorretinianas. Métodos: Se presentan tres casos clínicos de Síndrome de Aicardi, con importantes diferencias fenotípicas y de evolución de la enfermedad. Resultados: El primer caso es el caso más benigno de Síndrome de Aicardi descrito en la literatura, y se caracteriza por la baja morbilidad ocular, ausencia de epilepsia y de anomalías de la migración neuronal y desarrollo psicomotor normal. El segundo caso presenta larga supervivencia y pocas alteraciones oculares, pero un retardo severo en el desarrollo psicomotor. El tercer caso presenta alteraciones oculares más severas y mala evolución clínica con mortalidad a una edad temprana. Conclusiones: El Síndrome de Aicardi puede ser fenotípicamente heterogéneo presentando gran variabilidad en la severidad de características clínicas como el desarrollo psicomotor y el pronóstico de supervivencia. Nuestro estudio apoyaría que las anomalías de la migración neuronal y las lesiones coriorretinianas pueden ser factores pronósticos de esta enfermedad
Objective: Three cases of Aicardi Syndrome were diagnosed in our hospital. This syndrome is a rare, female-restricted genetic disease, characterized by agenesis of the corpus callosum, other central nervous system malformations, and chorioretinal lacunae. We have compared these cases with other cases of Aicardi Syndrome described in the world literature. Methods:We have reported the three cases of Aicardi Syndrome and detailed the important heterogeneity of phenotypic features and clinical severity. Results: The most benign case (case number 1) was characterized by mild ocular morbidity, absence of both migration abnormalities and epilepsy, and normal psychomotor development. Case number 2 achieved long-term survival with mild ocular alterations, but had severe retardation in psychomotor development. Case number 3 had the most severe ocular abnormalities which evolved rapidly and resulted in early death. Conclusions: Aicardi Syndrome can be phenotypically heterogeneous, presenting with substantial variability in the severity of clinical features such as psychomotor development and survival. Our study indicates that cortical migration abnormalities and retinal lesions may be useful prognostic factors
Subject(s)
Female , Child, Preschool , Child , Humans , Chorioretinitis/etiology , Coloboma/etiology , Syndrome , Coloboma/complications , Chorioretinitis/complications , Psychomotor Disorders/complications , Corpus Callosum/abnormalitiesABSTRACT
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.
Subject(s)
Adult , Humans , Male , Corpus Callosum/abnormalities , Schizophrenia, Childhood/etiology , Electroencephalography , Magnetic Resonance Imaging , Schizophrenia, Childhood/pathologyABSTRACT
La enfermedad de Hirschsprung (EH) o megacolon agangliónico es un trastorno congénito que secaracteriza por la ausencia de células ganglionares en los plexos submucosos y mioentéricos intestinales, debido a un fracaso en la migración de estas células desde la cresta neural (neurocrestopatía). Se han descrito disgenesias cerebrales y síndromespolimalformativos asociados a EH, lo que sugiere una morfogénesis anormal. Objetivo. Estudiar la frecuencia de malformaciones cerebrales en pacientes afectos de EH en nuestro medio. Pacientes y métodos. Estudio retrospectivo de 41.666 recién nacidos vivos, entre 1993 y 2003, de los cuales se identificaron 17 casos de EH. Resultados. La incidencia de EH en el área de salud de la provincia de Albacete es de 1,68 por cada 5.000 recién nacidos vivos. De los 17 pacientes estudiados porEH, 10 fueron aislados (58,8%) y siete (41,1%) asociados a otras anomalías estructurales y retraso psicomotor. De estos últimos, tres se deben a cromosomopatía (trisomía 21, síndrome de Down), dos a síndromes polimalformativos específicos (un síndrome de Mowat-Wilson, y un posible síndrome FG), uno a patrón de anomalías no encuadrable en entidad sindrómica conocida,y uno con fenotipo normal y disgenesia cerebral aislada. En todos ellos los estudios de neuroimagen identificaron disgenesias cerebrales compatibles con trastornos de la migración neuronal. Conclusiones. La frecuencia de asociación de EH, bien aislada o en el contexto de un síndrome polimalformativo específico, con trastornos de la migración neuronal, es elevada(23,5%). Sugerimos la conveniencia de una valoración genética y neurológica completa en pacientes con EH, y estudios de imagen cerebral para descartar disgenesias cerebrales
Hirschsprungs disease (HD), or aganglionic megacolon, is a congenital disorder that is characterisedby the absence of ganglion cells in the submucosal and myenteric plexuses of the intestine, which is caused by the failure of these cells to migrate from the neural crest (neurocristopathy). Cerebral dysgenesis and polymalformation syndromes have been reported in association with HD, thus suggesting an abnormal morphogenesis. Aim. To study the frequency of cerebralmalformations in patients with HD in our environment. Patients and methods. We conducted a retrospective study of 41,666 live newborn infants, over the period 1993-2003, and 17 cases of HD where identified. Results. The incidence of HD in the health district of the province of Albacete is 1.68 per 5,000 live newborn infants. Of the 17 patients with HD who were studied,10 were isolated (58.8%) and seven (41.1%) were associated to other structural abnormalities and psychomotor retardation. Three of the cases in this latter group were due to chromosome pathology (trisomy 21, Down syndrome), two were caused by specific polymalformation syndromes (one Mowat-Wilson syndrome and one possible FG syndrome), one was due to a pattern of abnormalities that did not fit any known syndrome, and one had a normal phenotype and isolated cerebral dysgenesis. In all of cases the neuroimaging studies identified cerebral dysgenesis that was compatible with neuronal migration disorders.Conclusions. The frequency of association of HD, either isolated or within the context of a specific malformation syndrome, with neuronal migration disorders is high (23.5%). We suggest a full genetic and neurological evaluation should be carriedout in patients with HD, together with brain imaging studies in order to rule out the possibility of cerebral dysgenesis
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Hirschsprung Disease/complications , Neural Crest/physiopathology , Nervous System Malformations/complications , Corpus Callosum/abnormalities , Cerebral Palsy/complications , Intellectual Disability/complications , Hepatolenticular Degeneration/complications , Down Syndrome/complications , Retrospective StudiesABSTRACT
Objetivo. Presentar dos nuevos pacientes de displasia cerebrofaciotorácica (síndrome de Pascual-Castroviejo tipo 1).Material y métodos. Se presentan dos niños de 16 meses y 9 años que fueron estudiados por dismorfia facial y torácica y retraso en la evolución psicomotriz.Resultados. Los dos niños presentaban las características faciales y las alteraciones costovertebrales del síndrome así como hipogenesia del cuerpo calloso. El paciente 1 tenía riñón y uréter doble en el lado izquierdo, mientras que el paciente 2 mostraba la mano izquierda más corta que la derecha y con deformidad de los primeros tres dedos. El aspecto facial era amistoso, pero el retraso psicomotor era evidente.Conclusión. En estos dos pacientes puede constatarse la asociación de malformaciones todavía no descritas previamente en este síndrome, tales como el riñón doble unilateral (paciente 1) y las deformidades esqueléticas en una mano (paciente 2)
Objective. To report two new patients with cerebrofaciothoracic dysplasia (Pascual-Castroviejo type I syndrome).Material and methods. We present two boys of 16 months and 9 years of age who were studied because of facial features, costovertebral defects and psychomotor delay.Results. Both patients had the facial and thoracic phenotype that characterizes this syndrome, associated with corpus callosum hypogenesis. Patient 1 had double kidney and ureter on the left side and the patient 2 a smaller left hand than the right one with anomalies of the first fingers. This second patient had affable behavior, but the psychomotor delay was obvious.Conclusion. In both patients, some anomalies unreported to date in this syndrome, such as double kidney and ureter (patient 1) and anomalies of fingers on one hand (patient 2) were found
Subject(s)
Humans , Male , Infant , Child , Uterine Cervical Dysplasia/diagnosis , Psychomotor Disorders/etiology , Corpus Callosum/abnormalitiesABSTRACT
Uso de ecografía en la detección de lesiones del cuerpo calloso: agenesia total y parcial, disgenesia y displasia, o lesiones secundarias. Esta práctica permite relacionarlas con patologías en el recién nacido y el lactante, al conocer su evolución embriológica y su ubicación anatómica.(AU)
Subject(s)
Female , Pregnancy , Humans , Corpus Callosum/abnormalities , Corpus Callosum/injuries , Corpus Callosum/pathology , Corpus Callosum/diagnostic imaging , Ultrasonography, Prenatal/statistics & numerical data , Prenatal DiagnosisABSTRACT
Caso clínico: Se presenta el caso de una niña de 2 meses y 3 semanas de vida que ingresa desde Urgencias por crisis comiciales. Fue diagnosticada en la semana 20 de gestación de agenesia de cuerpo calloso, posteriormente confirmada en ecografía cerebral postnatal. En la exploración del fondo de ojo, se observaron lagunas retinianas (coriorretinopatia lacunar) peripapilares en «sacabocados» en ambos ojos. La resonancia magnética craneal muestra agenesia completa del cuerpo calloso. Discusión: Las lesiones atróficas coriorretinianas con alteración del epitelio pigmentario de la retina, son fundamentales en el diagnóstico del síndrome de Aicardi
Clinical case: We report the case of an 81-day-old female infant who was brought to the Emergency Department because of a seizure. At 20 weeks of gestational age she was diagnosed to have agenesis of the corpus callosum, with this being confirmed later by magnetic resonance imaging. Ophthalmological examination of the fundus showed peripapillar chorioretinal lesions (lacunar chorioretinopathy) in both eyes. Discussion: Chorioretinal lacunar and retinal pigment epithelial abnormalities are the basis for the diagnosis of this syndrome
Subject(s)
Female , Infant , Humans , Spasms, Infantile/complications , Spasms, Infantile/diagnosis , Chorioretinitis/complications , Corpus Callosum/abnormalities , Chorioretinitis/diagnosis , Eye Abnormalities/complications , Eye Abnormalities/diagnosis , Corpus Callosum/injuries , Chorioretinitis/pathology , Chorioretinitis/therapy , Fundus Oculi , Magnetic Resonance Imaging/methods , Skull/pathology , Skull , Epilepsy/complications , Epilepsy/diagnosisABSTRACT
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.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Adult , Corpus Callosum/abnormalities , Corpus Callosum , Ultrasonography, Prenatal , Cerebral Ventricles/abnormalities , Cerebral Ventricles , Pregnancy Complications , Dilatation, Pathologic , Referral and ConsultationABSTRACT
La agenesia del cuerpo calloso puede ser asintomática en algunos de los individuos con esta malformación cerebral. Se han descrito casos sobre la asociación de agenesia del cuerpo calloso y enfermedades mentales. Describimos el caso de un varón de 31 años con el hallazgo de agenesia del cuerpo calloso en la resonancia magnética y psicosis aguda según los criterios de la CIE 10, tratada con éxito con olanzapina
The agenesis of the corpues callosum may be asymptomatic in some of the individuals with this brain malformation. Cases about association of the agenesis of the corpus callosum and mental disorders have been reported. We report a case of 31 years old man with the finding of agenesis of the corpus callosum on magnetic resonance and acute psychosis using theICD 10ª diagnostic criteria, successfully treated with olanzapine
Subject(s)
Male , Adult , Humans , Psychotic Disorders/etiology , Corpus Callosum/abnormalities , Nervous System Malformations/complications , Magnetic Resonance Spectroscopy , Incidental FindingsABSTRACT
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.
Subject(s)
Female , Humans , Male , Abnormalities, Multiple , Cephalometry , Corpus Callosum/abnormalities , Craniofacial Abnormalities/diagnosis , Frontal Bone/abnormalities , Nasal Bone/abnormalities , Age Factors , Case-Control Studies , Hypertelorism/diagnosis , Magnetic Resonance Imaging , Reproducibility of Results , Sex FactorsABSTRACT
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.
Subject(s)
Female , Humans , Infant , Anticonvulsants/therapeutic use , Arachnoid Cysts/pathology , Corpus Callosum/abnormalities , Electroencephalography , Epilepsies, Myoclonic/drug therapy , Epilepsies, Partial/drug therapy , Magnetic Resonance Imaging , Retinal Diseases/pathology , Spasms, Infantile/drug therapy , SyndromeABSTRACT
Propósito. Demostrar el valor de la Ultrasonografía (US) en el diagnóstico precoz de las malformaciones del desarrollo del sistema nervioso central y determinar la incidencia de las mismas en la población estudiada. Material y métodos. Desde abril de 1999 a abril de 2003 fueron realizadas por el mismo operador 5726 ecografías cerebrales de primera vez con transductores microconvex de 5 y 6 MHz por vía trans-fontanelar. Presentamos un análisis retrospectivo de las mismas referidas solamente a la detección de malformaciones del desarrollo cerebral en niños de 0 solicitadas por diferentes motivos. Se excluyeron las alteraciones cerebrales secundarias a patologías que no inciden en el desarrollo del SNC. (Hipoxia, encefalopatía, atrofia, etc.). Resultados. Se detectaron 118 malformaciones estructurales del desarrollo cerebral (2 por ciento). Siendo su frecuencia la siguiente: Hidrocefalia, 40 casos (34 por ciento); Agenesia parcial o total de cuerpo calloso, 19 (16 por ciento); Hidranencefalia, 13 (11 por ciento); Encefalocele, 12 (10 por ciento); Holoprosencefalia, 11 (9,3 por ciento); Complejo Dandy Walker, 10 (8,5 por ciento); Agenesia de Septum, 5 (4,2 por ciento); Esquisencefalia, 3 (2,5 por ciento); Lipomas intracraneanos, 2 (1,6 por ciento); Malformación Vascular de la fosa posterior, 1 (0,8 por ciento); Quiste aracnoideo, 1 (0,8 por ciento) y la asociación de Dandy Walker con Holoprosencefalia en un paciente, 1 (0,8 por ciento)...(AU)
Subject(s)
Male , Humans , Female , Infant, Newborn , Nervous System Malformations/diagnostic imaging , Nervous System Malformations/diagnostic imaging , Nervous System Malformations/classification , Hydrocephalus/diagnostic imaging , Arnold-Chiari Malformation/diagnostic imaging , Encephalocele/diagnostic imaging , Hydranencephaly/diagnostic imaging , Tectum Mesencephali/diagnostic imaging , Corpus Callosum/abnormalities , Corpus Callosum/diagnostic imaging , Holoprosencephaly/diagnostic imaging , Arachnoid Cysts/diagnostic imaging , Dandy-Walker Syndrome/complications , Dandy-Walker Syndrome/diagnostic imaging , Lipoma/diagnostic imaging , Brain Neoplasms/diagnostic imaging , Tomography, X-Ray Computed , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy/diagnosisABSTRACT
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
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Autistic Disorder , Brain/abnormalities , Brain , Autistic Disorder/pathology , Autistic Disorder/physiopathology , Brain/pathology , Cerebellum/abnormalities , Corpus Callosum/abnormalities , Magnetic Resonance Spectroscopy , Tomography, Emission-Computed, Single-PhotonABSTRACT
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
