Keywords
CADASIL; Multiple sclerosis; Demyelinating disease; Stroke; Ischemic cerebrovascular disease
Abstract
The differential diagnosis between many types of vascular and demyelinating diseases is sometimes difficult. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes, but its diagnosis is sometimes difficult and requires time and molecular tests.
The aim of this case report is to present a misdiagnosed family in which three male patients were treated with interferon 1β due to clinical and imaging manifestations suggestive of multiple sclerosis, but in the end, CADASIL was diagnosed.
A 48-years-old male presented an episode of central right facial palsy and progressive ipsilateral hemiparesis with the familiar antecedent of a non-specific central nervous system illness present in a brother and in a cousin. Under the diagnosis of multiple sclerosis, the patient was managed with interferon 1β, yet, he presented a new focal deficit despite treatment. After realizing the familiar pattern among the patients, and reconsidering the clinical and imaging characteristics, the multiple sclerosis diagnosis was unlikely, so the brother and cousin were re-evaluated, and a Notch 3 gene mutation was found, so that finally, the correct diagnosis of CADASIL was made.
This case report shows the importance of a familial approach when diagnosis seems to be unclear and there is no improvement in the control of the disease. Also, shows a familial approach in a very rare and misdiagnosed disease.
Citation
Soriano-Navarro E, Bravo-Reyna CC, Yañez-Castro J, Bravo-Angel U, García-Benítez C, Guillén JF, et al. The Importance of Establishing a Certain Diagnosis of Focal Neurologic Deficits: CADASIL Family Case Misdiagnosed Like Multiple Sclerosis. SM J Neurol Disord Stroke. 2017; 3(1): 1015 s.