Multiple cerebral cavernousmalformations in association witha Dubowitz-like syndrome
10.7461/jcen.2020.22.1.15
- Author:
Abteen MOSTOFI
1
;
Nihal T. GURUSINGHE
Author Information
1. Department of Neurosurgery, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Trust, Preston, PR2 9HT, UK
- Publication Type:Case Report
- From:Journal of Cerebrovascular and Endovascular Neurosurgery
2020;22(1):15-19
- CountryRepublic of Korea
- Language:English
-
Abstract:
Cerebral cavernous malformations (CCMs) are proliferative sinusoidal vascularlesions and are the most common vascular malformations of the brain. They canoccur sporadically or secondary to an underlying genetic predisposition where multiplelesions are commonly seen. Dubowitz syndrome is a clinically-diagnosed raregenetic disorder with an unknown molecular basis. An association between theseconditions has not been reported previously. A 30-year-old woman with a Dubowitz-like syndrome presented with acute left leg weakness, gait ataxia and transientloss of consciousness. Imaging revealed five CCMs with recent hemorrhage in relationto one lesion in the left middle cerebellar peduncle. A recurrent hemorrhage fromthe same lesion occurred ten weeks later and she underwent microsurgical excisionof this malformation. Genetic analysis revealed an unbalanced chromosomal rearrangementinvolving partial deletion of chromosome 7q21, the locus of the CCM1/KRIT1 gene known to be associated with familial CCMs. This is the first descriptionof CCMs in association with the Dubowitz phenotype. The genetic basis of Dubowitzsyndrome may be heterogeneous but, for the first time, overlap is demonstrated betweenthis condition and multiple CCMs, with a possible common genetic etiology.Knowledge of this association may be of help in the management of acute neurologicalpresentations in Dubowitz-like syndromes.
