CCM1/KRIT1 Mutation in Monozygotic Twins of a Polyzygotic Triplet Birth: Genetic, Clinical and Radiological Characteristics

Overview

Journal Neurosurg Rev

Specialty Neurosurgery

Date 2019 Jun 8

PMID 31172378

Citations 1

Authors

Karl Hartmann

Klaus-Peter Stein

Belal Neyazi

Ute Felbor

Sven Hethey

I Erol Sandalcioglu

Affiliations

Soon will be listed here.

Abstract

Cerebral cavernous malformations are focal vascular lesions of the brain, occurring sporadically or as an autosomal dominant familial form. The genetic background influences not only the clinical course but also patients' consultation and the indication to treat. We here present the rare case of monozygotic male twins of a polyzygotic triplet birth, carrying a CCM1 mutation, inherited from the mother. Both twins showed an identical site and size of a large frontobasal lesion. The genetic segregation and the clinical course in affected family members are presented and discussed.

Citing Articles

Cervical Cord Hemorrhage in Cerebral Cavernous Malformations.

Wang Z, Wu H, Piao Y, Wang C J Clin Neurol. 2021; 17(4):576-578.

PMID: 34595868 PMC: 8490898. DOI: 10.3988/jcn.2021.17.4.576.

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