Familial cerebral cavernous malformations--a report of a Chinese Han family

Abstract

Objective To investigate the genetic, clinical, imaging and pathological features of Chinese Han familial cerebral cavernous malformations （FCCM）. Methods The clinical, imaging and pathological examination of FCCM in a Chinese Han family were analyzed and the family genetic map was drawn. Results Four of the 16 members in the family had FCCM, and they were consistent with the autosomal dominant inheritance with incomplete penetrance. Their main clinical manifestations were headache, cerebral hemorrhage, and focal neurological dysfunction. MRI mainly showed mixed signal intensity on T1 -weighted imaging, and it mainly showed inhomogeneous high signal with mixed signal intensity on Tz-weighted imaging, and the mixed low signals were observed inside with a black hypointensity ring on the rim. Pathological examination （HE staining） showed that CCM was composed of cavernous sinus of different sizes lacking muscularis and elastic fibers. Hyalinization, calcification or hemorrhage at different stages was observed in the lesions. There was a zone of gliosis around the lesions, containing hemosiderin within or around the lesions. Conclusions FCCM is an autosomal incomplete dominance inheritance disease. A hemosiderin ring around the lesions could be observed on MRI T2-weighted imaging. The pathological changes of CCM were the main reason for repeated minor hemorrhage and multiplicity of MRI lesions. Key words: Hemangioma, cavernous; Magnetic resonance imaging; Genetics