RESUMEN
Andermann syndrome is an autosomal recessive disorder characterized by the agenesis of the corpus callosum and peripheral neuropathy (ACCPN). People affected by Andermann syndrome have mental retardation, areflexia and severe progressive neuropathy often accompanied by psychiatric symptoms, and they typically die in the third decade of their life. We here report the case of a 5 year-old Turkish boy born to consanguineous parents. He presented to clinical attention with delayed development and epilepsy and was found to have dysmorphic characteristics, areflexia and severe neuropathy on exam. Imaging studies were remarkable for agenesis of corpus callosum. SLC12A6 screening revealed the presence of R1011X mutation; potentially responsible for the changes in intracellular and extracellular ion concentrations, leading to defects in cortical electrical activity.
Asunto(s)
Agenesia del Cuerpo Calloso/diagnóstico , Agenesia del Cuerpo Calloso/genética , Enfermedades del Sistema Nervioso Periférico/diagnóstico , Enfermedades del Sistema Nervioso Periférico/genética , Simportadores/genética , Preescolar , Consanguinidad , Cuerpo Calloso/patología , Diagnóstico Diferencial , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Mutación , TurquíaRESUMEN
Porencephaly is an extensively encountered condition in pediatric neurology practice and leads to serious morbidity with its complications. Important etiological factors are trauma, hemorrhage, infection and thrombophilic factors that may cause destruction in the developing brain. Col4A1 mutations were also shown in familial porencephaly cases. We describe two siblings with porencephaly, hemiparesis, epilepsy, atrophic kidney in one of the siblings and asymptomatic mothers with an arachnoid cyst. We performed Col4A1 gene mutation screening and detected a novel mutation in mother and both of the children. This family has some features previously undescribed in patients with mutations of Col4A1 gene like atrophic kidney in one sibling and arachnoid cyst in the mother. We discuss here the possible relationship between these abnormalities and the mutation.
Asunto(s)
Quistes Aracnoideos/genética , Enfermedades Cerebelosas/genética , Colágeno Tipo IV/genética , Mutación/genética , Adulto , Cerebelo/anomalías , Preescolar , Femenino , Humanos , Lactante , Masculino , PorencefaliaRESUMEN
We report an 11year-old female with 7q11.23 microduplication detected by an array-CGH test performed because of her atypical facial appearance while being followed-up with diagnoses of epilepsy and cerebral palsy at the pediatric neurology department since she was 3 months old. We emphasize that the facial phenotype by itself should arise suspicion of the 7q11.23 duplication.
