Letter by Pescini et al Regarding Article, “Peripheral Artery Disease as a Manifestation of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) and Practical Implications”
To the Editor:
We read with interest the case report by Briceno et al,1 describing a 48-year-old man who was diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) based on a skin biopsy after the disease was suspected because of migraine, dementia, a positive family history for cognitive decline, and chronic ischemic changes on brain MRI. Genetic testing was not reported.
The patient developed dry gangrene of the right 1st to 3rd toes with an arteriogram showing absence of flow in multiple digital arteries bilaterally. This presentation is rather unique for CADASIL and has never been reported in this disease.2
Before deriving definite conclusions about a possible etiologic correlation between this genetic small vessel disease and the reported picture, it would be useful to better know the patient’s vascular risk factor profile (ie, did the patient experience diabetes mellitus or hypercholesterolemia, or was he a smoker?). In our experience, CADASIL patients often have vascular risk factors, and in fact the suspicion of the disease should not be abandoned in their presence.3 On the other hand, a high vascular risk factor profile is obviously associated with atherosclerosis. In this regard, a coronary artery disease might be suspected in this patient, but information regarding other districts such as carotid, intracranial, renal, iliac, and femoral arteries is lacking. Finally, brain MRI features in this patient are not entirely typical for CADASIL and deserve some comments. Of note, the images show cortical lesions that appear located at the superficial border zones between the anterior and posterior arteries in both hemispheres.
Our concerns derive from the fact that, although CADASIL is a systemic small vessel disease, the clinical features are generally limited to the central nervous system. In the reported patient, it would be important to clearly define that the peripheral disturbances and some brain cortical lesions are not expression of atherosclerosis rather than of small vessel disease.
Francesca Pescini, MD, PhD
Anna Poggesi, MD, PhD
NEUROFARBA Department, Neurosciences Section
University of Florence, Azienda Ospedaliero
Universitaria Careggi, Florence, Italy
Leonardo Pantoni, MD, PhD
Stroke Unit and Neurology
Azienda Ospedaliero Universitaria Careggi
- © 2013 American Heart Association, Inc.