Cadasil: case report / Cadasil: relato de caso

• Autor(a) principal: Marinho, Arthur Coelho Moura
• Data de Publicação: 2022
• Outros Autores: André, Amanda Letícia, de Jesus, Tatiane Arroyo Lopes, Dircksen, Nathalye Fernanda Pedroso, Carvalho, Marcelo Simplício, dos Santos, Breno Wiliam Correa, Kaimen-Maciel, Damacio Ramon
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Brazilian Journal of Health Review
• Texto Completo: https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/43686
• topic: CADASIL; NOTCH3; STROKE

A 48-year-old patient, male, previously healthy, started migraine with aura at 46 years old of age. After two years, he evolved with the first episode of Ischemic Stroke, with motor and sensory deficit of the left hemibody with partial recovery of symptoms. Stroke protocol and etiological investigation were performed without alterations. Two months later, he presented convulsive crisis requiring the use of medication still for control. It evolved with mild cognitive impairment and depression. Three years later, he had a new episode of stroke, performed Magnetic Resonance Imaging of the Skull, evidencing areas of hypersignal in T2/ FLAIR in the poles of the temporal lobes, also diffusely affecting the supratentorial white substance, with small focal alterations of a means suggestive of small ischemic sequelae, also present in the callous body, deep gray substantial and brainstem, of probable vascular nature. Thus, CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) was suspected, requested genetic testing showing alteration in the DNA sequence of the NOTCH-3 gene, Allelo1: t > C transition, nucleotide 514; códon 146; exchange of the amino acid cysteine > Arginine. Allelo 2: Transition C > G, nucleotide 1272; códon 398; no amino acid exchange, confirming diagnostic suspicion. The patient is monitored in the neurology outpatient clinic with multidisciplinary rehabilitation therapy, secondary prevention treatment for stroke, antidepressant medication and topiramate for migraine treatment.