Tratamiento rehabilitador en la CADASIL: a propósito de un caso

Abstract

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a dominant autosomal hereditary angiopathy produced by the mutation of NOCTH 3 gene in chromosome number 19. The symptoms of the disease include migraine with aurea, psychiatric problems, ischemic episodes and cognitive deficits. The typical course of CADASIL is slowly progressive. The diagnosis must be genetically confirmed through the detection of its characteristic mutations and/or some cutaneous pathological changes. We present the case of a 63-year-old man who suffered from episodic neurological deficits, left hemiparesis, pseudobulbar syndrome, and progressive sequelae. In February 2004, the diagnosis of CADASIL was reached, due to mutation G428A (Gys171Tyr) in exon number 4 of NOTCH 3 gene. Treatment was performed with physical and occupational therapy for 3 months. At one year of follow-up, the result was satisfactory. Due to the disabling and progressive outcome of the disease, and to the lack of etiological treatment, physical and occupational therapy are paramount to minimize its functional impact and sequelae.