RESUMO
We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the case of rare mutations outside the mutation hotspots in NOTCH3 as shown in this patient.
Assuntos
CADASIL/genética , Éxons , Mutação , Receptores Notch/genética , Adulto , Povo Asiático/genética , Sequência de Bases , Biópsia , CADASIL/diagnóstico , CADASIL/metabolismo , CADASIL/patologia , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Microscopia Eletrônica , Receptor Notch3 , Pele/metabolismo , Pele/patologiaRESUMO
Dural rupture, cerebrospinal fluid leakage, and spontaneous intracranial hypotension may complicate significant or minimal spinal trauma and cause chronic headache with a positional component. While such cases typically reflect no pre-existing predilection, we encountered a patient whose cervicothoracic anatomy appeared to predispose him to this complication.