Vojnosanitetski pregled 2011 Volume 68, Issue 5, Pages: 455-459
https://doi.org/10.2298/VSP1105455K
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Krsmanović Željko (Military Medical Academy, Neurology Clinic, Belgrade)
Dinčić Evica (Military Medical Academy, Neurology Clinic, Belgrade)
Kostić Smiljana (Military Medical Academy, Neurology Clinic, Belgrade)
Lačković Vesna (School of medicine, Institute of Histology and Embryology, Belgrade)
Bajčetić Miloš (School of medicine, Institute of Histology and Embryology, Belgrade)
Lačković Maja (Clinical Center of Serbia, Institute of Psychiatry, Belgrade)
Bošković Željko (Military Medical Academy, Neurology Clinic, Belgrade)
Raičević Ranko (Military Medical Academy, Neurology Clinic, Belgrade)
Introduction. Fast and precise diagnostics of the disease from the large
group of adult leukoencephalopathy is difficult but responsible job, because
the outcome of the disease is very often determined by its name. Cerebral
autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is caused by the mutation of Notch 3 gene on
chromosome locus 19p13. Beside the brain arterioles being the main disease
targets, extracerebral small blood vessels are affected by the pathological
process. Clinically present signs are recurrent ischemic strokes and vascular
dementia. CADASIL in its progressive form shows a distinctive pattern of
pathological changes on MRI of endocranium. The diagnosis is confirmed by the
presence of granular osmiophilic material (GOM) in histopathological skin
biopsies. Case reports. Two young adult patients manifested ischemic strokes
of unknown etiology, cognitive deterioration, migraine and psychopathological
phenomenology. MRI of endocranium pointed on CADASIL. Ultrastructural
examination of skin biopsy proved the presence of GOM in the basal lamina and
near smooth muscle cells of arteriole dermis leading to CADASIL diagnosis.
The presence of GOM in histopathological preparation is 100% specific for
CADASIL. The patients were not searched for mutation in Notch 3 gene on
chromosome 19, because some other leukoencephalopathy was disregarded.
Conclusion. Suggestive clinical picture, distinctive finding of endocranium
MRI, the presence of GOM by ultrastructural examination of histopathological
skin biopsies are sufficient to confirm CADASIL diagnosis.
Keywords: CADASIL, magnetic resonance imaging, immunohistochemistry, muscle, smooth, vascular, diagnosis, drug therapy
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