Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Syndrome: A Case Report and Review of Literature.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant genetic disorder of the small arteries that causes ischemic vascular events, subcortical dementia, behavioral changes, and migraine-like headaches. It is caused by a mutation in the NOTCH3 gene; this disease was first described in 1955 by van Bogaert. We present a 29-year-old woman who presented to the neurology department. She has no history of chronic degenerative diseases. She has been complaining of migraine-like headaches for the past six months. She has cognitive impairment with arithmetic and executive function deficits on neurological examination. Blood biometry and blood chemistry are within normal parameters in her laboratory studies. A viral panel and immunological profile were also performed and were not reactive. A lumbar puncture was performed, and the composition of the cerebrospinal fluid was within normal limits. An MRI was performed, which showed bilateral and symmetric white matter hyperintensities consistent with CADASIL syndrome. There is no specific treatment. Management of these patients is based on symptom control. Neurological sequelae have an important impact on the quality of life and mortality of these patients. For this reason, pharmacological preventive therapies have been sought with controversial evidence.

Informations de copyright

Copyright © 2024, Gutierrez Gomez et al.

Déclaration de conflit d'intérêts

The authors have declared that no competing interests exist.