Türk Beyin Damar Hast Derg. Baskýdaki Makaleler: TBDHD-68926 | DOI: 10.5505/tbdhd.2025.68926

Yeni bir CARASIL ailesi: Hastalýðýn yeni bir özelliði olarak rekürren lober hemoraji

Özlem Kayým Yýldýz¹, Malik Ejder Yýldýrým², Tuðçe Beyzanur Arýsoy¹, Bülent Yýldýz^3
1Cumhuriyet Üniversitesi Týp Fakültesi, Nöroloji Anabilim Dalý, Sivas,
²Cumhuriyet Üniversitesi Týp Fakültesi, Týbbi Genetik Anabilim Dalý, Sivas
³Cumhuriyet Üniversitesi Týp Fakültesi, Radyoloji Anabilim Dalý, Sivas

Subkortikal infarktlar ve lökoensefalopatiyle birlikte serebral otozomal resesif arteriopati (CARASIL), serebral küçük damar hastalýðýnýn nadir bir monogenik nedenidir. Klinik manifestasyonlar progresif motor ve kognitif bozulma, alopesi ve spondilozu içerir. Hastalýða, high-temperature requirement A serine peptidase 1’i (HTRA1) kodlayan genin homozigot mutasyonu neden olur. CARASIL’de genotip-fenotip korelasyonuna iliþkin bilinenler sýnýrlýdýr. Bu makalede HTRA1 geninde homozigot c.235C>T (p.Q79*) mutasyonu saptanan ayný aileye ait iki birey sunulmaktadýr. Ayný mutasyona sahip olmalarýna karþýn iki hastanýn farklý klinik özellikler ve nörogörüntüleme bulgularý mevcuttu; hastalardan biri multipl rekürren lober hemorajiler ve epileptik nöbetlerle prezente olmuþtu. Lober hemoraji CARASIL’de daha önce bildirilmemiþtir.

Anahtar Kelimeler: Subkortikal infarktlar ve lökoensefalopatiyle birlikte serebral otozomal resesif arteriopati, CARASIL, HTRA1, hemoraji

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A new CARASIL family: Recurrent lobar hemorrhage as a novel characteristic of the disease

Özlem Kayým Yýldýz¹, Malik Ejder Yýldýrým², Tuðçe Beyzanur Arýsoy¹, Bülent Yýldýz^3
1Cumhuriyet University Faculty of Medicine, Department of Neurology, Sivas, Türkiye
²Cumhuriyet University Faculty of Medicine, Department of Medical Genetics, Sivas, Türkiye
³Cumhuriyet University Faculty of Medicine, Department of Radiology, Sivas, Türkiye

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare monogenic cause of cerebral small vessel disease. Clinical manifestations include progressive motor and cognitive impairments, alopecia and spondylosis. The disease is caused by homozygous mutations in the gene coding for high-temperature requirement A serine peptidase 1 (HTRA1). Little is known about genotype–phenotype correlation in CARASIL. Here we report two consanguineous CARASIL patients having homozygous c.235C>T (p.Q79*) mutation of the HTRA1 gene. Despite having the same mutation, the patients had different clinical manifestations and neuroimaging findings; one of the patients presented with epileptic seizures and multiple recurrent lobar hemorrhages. Lobar hemorrhage has not been previously reported in CARASIL.

Keywords: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, CARASIL, HTRA1, hemorrhage

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