RESUMO
We report the case of a young girl who was presented with complex clinical symptoms caused by the deletion of contiguous genes: RASA1 and MEF2C, located on chromosome 5q14.3. Specifically, the diagnosis of her skin disorder and vascular malformations involving central nervous system is consistent with a RASopathy. The child's neurological manifestations are observed in most patients suffering from 5q14.3 by deletion or mutation of the MEF2C gene. A review of the literature allowed us to conclude that the contiguous deletion of genes RASA1 and MEF2C fulfills the criteria for the diagnosis of a Neurocutaneous syndrome as proposed by Carr et al. [2011]. We also assessed the penetrance of RASA1 and clinical manifestations of MEF2C according to the type of deletion. This child described presents the complete symptomatology of both deleted genes. We would also like to highlight the progression of the disorder.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 5 , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/genética , Proteína p120 Ativadora de GTPase/genética , Vasos Sanguíneos/anormalidades , Vasos Sanguíneos/metabolismo , Encéfalo/metabolismo , Encéfalo/patologia , Encéfalo/fisiopatologia , Criança , Progressão da Doença , Feminino , Deleção de Genes , Humanos , Fatores de Transcrição MEF2/deficiência , Fatores de Transcrição MEF2/genética , Síndromes Neurocutâneas/patologia , Síndromes Neurocutâneas/fisiopatologia , Penetrância , Pele/irrigação sanguínea , Pele/metabolismo , Pele/patologia , Proteína p120 Ativadora de GTPase/deficiênciaRESUMO
We present 23 patients with PHACE syndrome showing similarities in our population with data that already exist while highlighting neurodevelopmental occurrences arising in a subset of these patients.
Assuntos
Coartação Aórtica/tratamento farmacológico , Coartação Aórtica/fisiopatologia , Anormalidades do Olho/tratamento farmacológico , Anormalidades do Olho/fisiopatologia , Síndromes Neurocutâneas/tratamento farmacológico , Síndromes Neurocutâneas/fisiopatologia , Prednisolona/administração & dosagem , Propranolol/administração & dosagem , Vincristina/administração & dosagem , Antagonistas Adrenérgicos beta/administração & dosagem , Antagonistas Adrenérgicos beta/efeitos adversos , Criança , Pré-Escolar , Feminino , Glucocorticoides/administração & dosagem , Glucocorticoides/efeitos adversos , Humanos , Lactente , Recém-Nascido , Masculino , Sistema Nervoso/crescimento & desenvolvimento , Prednisolona/efeitos adversos , Propranolol/efeitos adversos , Estudos Retrospectivos , Resultado do Tratamento , Moduladores de Tubulina/administração & dosagem , Moduladores de Tubulina/efeitos adversos , Vincristina/efeitos adversosRESUMO
INTRODUCTION: The limbic system, is associate to emotional behavior. Partial epileptic seizures are the expression of alterations of the temporal lobe, hippocampus and amygdala. In nonconvulsive episodes, autonomic alterations, visceral dysfunction and abnormal emotional states illustrate epileptic symptomatology. Fear responses, with possible connections to amygdala are presents in partial epileptic seizures. CLINICAL CASE: We present five patients with symptomatology mainly in emotional expression. Four had a structural lesion: one, multiple phacomatosis, two, tumors of the amygdala region (ganglioglioma) and one, a pineal cyst. The fifth child lacking a structural lesion, showed spike waves in the temporal lobe. CONCLUSION: It is essential to search for structural or functional alterations in patients with paroxysmal fear reactions, as probable partial crisis with psychoaffective manifestation.