Cerebral autosomo-dominant arteriopathy with subcortical infarctions and leukoencephalopathy

Abstract

The article presents an analysis of the literature and a clinical case of a rare disease from the group of diseases of small vessels - cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL). It is based on the deposition of osmiophilic granulation material in vessels of small and medium caliber. A mutation in the NOTCH3 gene on chromosome 19p13 leads to significant structural changes in the walls of small arteries due to impaired differentiation and maturation of smooth muscle cells. CADASIL is characterized by four key symptoms: migraines, recurrent ischemic strokes, mental disorders, and cognitive decline. The clinical case study is presented from the standpoint of a multidisciplinary patient-oriented approach of joint work of neurologists and morphologists. On the basis of clinical and laboratory criteria, a probable diagnosis was made. To confirm it, a muscle biopsy was performed (a musculocutaneous flap from the inner surface of the thighs and forearms), in order to conduct light and electron microscopy. The details of the results of the morphological study, which made it possible to verify the patient's diagnosis, are presented. Differential diagnostic judgments are presented and recommendations for genetic studies in the family, prognosis and treatment of the patient are given.