RESUMEN
MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. We report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal looking corpus callosum, with whom the conventional cytogenetic studies turned out to be normal, and an array-comparative genomic hybridization (a-CGH) analysis showed CASK gene duplication at Xp11.4. Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive.
Asunto(s)
Pueblo Asiatico , Proteínas Quinasas Dependientes de Calcio-Calmodulina/genética , Enfermedades Cerebelosas/congénito , Enfermedades Cerebelosas/epidemiología , Enfermedades Cerebelosas/genética , Enfermedades Cerebelosas/diagnóstico por imagen , Cromosomas Humanos X , Hibridación Genómica Comparativa/métodos , Discapacidades del Desarrollo/genética , Femenino , Humanos , Lactante , Microcefalia/epidemiología , Microcefalia/genética , Microcefalia/diagnóstico por imagen , Fenotipo , Puente/anomalías , Puente/epidemiología , Puente/genética , Puente/diagnóstico por imagen , Inactivación del Cromosoma XRESUMEN
Synergistic convergence is an ocular motor anomaly where on attempted abduction or on attempted horizontal gaze, both the eyes converge. It has been related to peripheral causes such as congenital fibrosis of extraocular muscles (CFEOM), congenital cranial dysinnervation syndrome, ocular misinnervation or rarely central causes like horizontal gaze palsy with progressive scoliosis, brain stem dysplasia. We hereby report the occurrence of synergistic convergence in two sisters. Both of them also had kyphoscoliosis. Magnetic resonance imaging (MRI) brain and spine in both the patients showed signs of brain stem dysplasia (split pons sign) differing in degree (younger sister had more marked changes).
Asunto(s)
Adolescente , Niño , Progresión de la Enfermedad , Femenino , Fijación Ocular , Humanos , Cifosis/complicaciones , Cifosis/diagnóstico , Imagen por Resonancia Magnética , Trastornos de la Motilidad Ocular/complicaciones , Trastornos de la Motilidad Ocular/fisiopatología , Oftalmoplejía/complicaciones , Puente/anomalías , Puente/patología , Escoliosis/complicaciones , Escoliosis/diagnóstico , HermanosAsunto(s)
Cerebelo/anomalías , Preescolar , Discapacidades del Desarrollo/complicaciones , Cabeza/anomalías , Humanos , Imagen por Resonancia Magnética , Masculino , Puente/anomalías , Adulto , Artritis Reumatoide/diagnóstico , Autoanticuerpos/sangre , Humanos , Péptidos Cíclicos/inmunología , Enfermedades Reumáticas/diagnóstico , Factor Reumatoide/sangre , Sensibilidad y EspecificidadRESUMEN
Angiomas cavernosos ocupam lugar de destaque dentre as manifestaçöes vasculares do sistema nervoso. Apresenta-se o caso de um paciente adulto com quadro neurológico iniciado subitamente (sindrome de tronco encefálico), após procedimento cirúrgico abdominal. Evoluiu favoravelmente com melhora espontânea, permanecendo com sequelas distúrbios da sensibilidade superficial da hemiface direita e membro inferior esquerdo e amiotrofia segmentar. Os exames de neuroimagem revelaram malformaçäo vascular (angioma cavernoso) do tronco encefálico (ponte). Os autores discutem a importância dos métodos de neuroimagem para determinaçäo diagnóstica e, principalmente, debatem aspectos da terapêutica conservadora e indicaçöes cirúrgicas