Case Report: Diffuse Cerebral Microbleeds in Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Abstract

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a hereditary cerebral small vascular disease caused by a homozygous mutation in the high-temperature requirement A serine peptidase 1 (HTRA1) gene. Cerebral microbleeds (CMBs) are increasingly being recognized as neuroimaging findings occurring with cerebrovascular disease and have different etiologies. Mild to moderate CMBs are not unusual in CARASIL, and they are observed to affect cortical and subcortical structures; in contrast, diffuse CMBs, especially in the cerebellum, are rare. In this case, we report a novel mutation of HTRA1 in a 43-year-old woman whose imaging indicated multiple CMBs in all lobes, brain stem, and cerebellum. The amount and location of CMBs vary in CARASIL cases, and the potential cause is not fully understood. This study revealed that specific imaging findings of this patient may be related to a new genetic mutation.

Cerebral microbleeds: Causes, clinical relevance, and imaging approach – A narrative review

“…The exact incidence of microbleeds in CARASIL is poorly documented at present, given the rarity of this condition. [ 24 , 25 ]…”

Progress in the Study of the Role and Mechanism of HTRA1 in Diseases Related to Vascular Abnormalities

“…Mild to moderate cerebral microhemorrhages are common in CARASIL patients, but diffuse cerebral microhemorrhages are rare. Wen et al 56 reported a 43-year-old woman whose imaging showed multiple cerebral microhemorrhages in all lobes, the brainstem and the cerebellum. After sequencing, it was found to be a novel mutation in HTRA1, so HTRA1 gene mutation was considered to be associated with cerebral microbleeds.…”