Conţinutul numărului revistei |
Articolul precedent |
Articolul urmator |
89 0 |
Căutarea după subiecte similare conform CZU |
616.857:616.133.33 (1) |
Neurologie. Neuropatologie. Sistem nervos (971) |
Patologia sistemului circulator, a vaselor sanguine. Tulburări cardiovasculare (975) |
SM ISO690:2012 GUȚUL, Cătălina, GROSU, Oxana, ROTARU, Lilia, ODOBESCU, Stela, MOLDOVANU, Ion. Cephalalgic syndrome in autosomal dominant cerebral arteriopathy with subcortical infarctions and leucoencephalopathy. In: Moldovan Medical Journal, 2023, nr. 2(66), pp. 66-70. ISSN 2537-6373. DOI: https://doi.org/10.52418/moldovan-med-j.66-2.23.10 |
EXPORT metadate: Google Scholar Crossref CERIF DataCite Dublin Core |
Moldovan Medical Journal | |||||||
Numărul 2(66) / 2023 / ISSN 2537-6373 /ISSNe 2537-6381 | |||||||
|
|||||||
DOI:https://doi.org/10.52418/moldovan-med-j.66-2.23.10 | |||||||
CZU: 616.857:616.133.33 | |||||||
Pag. 66-70 | |||||||
|
|||||||
Descarcă PDF | |||||||
Rezumat | |||||||
Background: Autosomal Dominant Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is caused by mutations in NOTCH3 gene, classic symptoms include migraine with aura, ischemic strokes, apathy, depression and dementia. Headache is usually the first symptom, characterized by recurrent attacks of migraine with typical, hemiplegic or prolonged aura with unusual frequency. Material and methods: All the data were picked from the patient’s medical recordings. The patient had undergone a complete clinical exam, a contrast enhanced MRI-scan and a genetic test. Then a literature review was done based on the peculiarities of the case. Results: A 43-year-old woman presented with pulsatile, alternating, severe headache, accompanied by phono, and photophobia, nausea and vomiting, with an onset at 35 years and a frequency of 12/30, triggered by menstruation and stress, preceded by a day by a visual aura lasting 5-6 minutes. Family history revealed cases of stroke and migraine. Neurologic examination was normal, but a contrast enhanced MRI showed diffuse polymorph confluent subcortical white matter lesions, involving external capsule and anterior poles of the temporal lobes. NOTCH3 gene sequencing revealed the presence of a heterozygote missense c.421C>T mutation, localized in the 4thexone. After establishing the diagnosis, the patient was prescribed a symptomatic treatment. Conclusions: Headache in CADASIL patients has well-defined diagnostic criteria in the International Classification of Headache Disorders, is being considered a secondary headache which may resemble or not migraine with aura. The patient presented a migraine-with-aura-like headache but with some peculiarities. |
|||||||
Cuvinte-cheie CADASIL, NOTCH3, migraine with aura |
|||||||
|