Heterozygous HTRA1-related Cerebral Small Vessel Disease with Short Stature and Limbs

Abstract

Heterozygous HTRA1 gene variants are associated with hereditary cerebral small vessel disease (CSVD). HTRA1 also plays an important role in bone metabolism; however, its association with abnormal bone formation remains unclear. A 51-year-old man with minimal vascular risk factors was hospitalized for acute ischemic stroke, and magnetic resonance imaging demonstrated scattered deep cerebral white matter lesions. Anthropometric measurements revealed short stature and limb length. A genetic analysis revealed a heterozygous missense variant (c.889G>A, p. V297M) in HTRA1. The patient was diagnosed with heterozygous HTRA1-related CSVD. Our case suggests that this HTRA1 variant may contribute to shorter limbs and height.