CADASIL-A RARE PRESENTATION OF STROKE
DOI:
https://doi.org/10.22159/ijcpr.2024v16i3.4085Keywords:
CADASIL, Transient ischemic attacks, NOTCH3, Hereditary syndrome, MicroangiopathyAbstract
Objective: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by heterozygous mutations in the NOTCH3 gene that manifests in adulthood and is characterized by recurrent transient ischemic attacks and strokes, migraine-like headaches, psychiatric disturbance, and progressive dementia.
Methods: This is a case report.
Results: Current case presented with complain of dizziness and vomiting. The diagnosis was suspected mainly because of the typical brain magnetic resonance imaging (MRI). This shows the importance of brain MRI in the diagnosis of CADASIL.
Conclusion: Increased awareness of neurologists and neuroradiologists about the typical MRI features of CADASIL is of vital importance to reach the diagnosis in a timely manner.
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Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature. 1996 Oct;383(6602):707–10. doi: 10.1038/383707a0[PubMed]0028-083.
Spearman B, Karambelkar A, Talekar K. CADASIL: a case report with an atypical presentation and novel mutation. IJRRT. 2017;4(2):358-61. doi: 10.15406/ijrrt.2017.04.00094.
Joutel A, Andreux F, Gaulis S, Domenga V, Cecillon M, Battail N. The ectodomain of the notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest. 2000;105(5):597-605. doi: 10.1172/JCI8047, PMID 10712431.
Vahedi K, Chabriat H, Levy C, Joutel A, Tournier Lasserve E, Bousser MG. Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL. Arch Neurol. 2004 Aug;61(8):1237–40. doi: 10.1001/archneur.61.8.1237[PubMed]0003-9942.
Ferrante EA, Cudrici CD, Boehm M. CADASIL: new advances in basic science and clinical perspectives. Curr Opin Hematol. 2019;26(3):193-8. doi: 10.1097/MOH.0000000000000497, PMID 30855338.
Masellis M, Sherborn K, Neto P, Sadovnick DA, Hsiung GY, Black SE. Early-onset dementias: diagnostic and etiological considerations. Alzheimers Res Ther. 2013;5Suppl 1:S7. doi: 10.1186/alzrt197, PMID 24565469.
Schoemaker D, Quiroz YT, Torrico Teave H, Arboleda Velasquez JF. Clinical and research applications of magnetic resonance imaging in the study of CADASIL. Neurosci Lett. 2019;698:173-9. doi: 10.1016/j.neulet.2019.01.014, PMID 30634011.
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Copyright (c) 2024 AASHISH DAMA, PULKIT JAIN, JITENDRA SINGH, CHANDRA KANT SALVE, ASHISH SHARMA
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