A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene
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LETTER TO THE EDITOR
A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene Muhammed Noushad1 · Shakya Bhattacharjee1 · Stuart J. Weatherby1 · Peter Whitefield2 Received: 21 December 2019 / Accepted: 29 February 2020 © Belgian Neurological Society 2020
Keywords Headache · Cavernoma · Malformation · Gene · Mutation A 44-year-old female presented with an episodic left-sided throbbing headache associated with tearing of her left eye and occasional photophobia for the past 5 years. This headache was not associated with diplopia, drooping of her eyelids or redness of her eyes. Clinical examination was unremarkable. She had brain imaging to rule out any structural abnormality. The Magnetic resonance imaging (MRI) of the head with susceptibility-weighted imaging (SWI) sequences showed multiple cavernoma (more than 5), the largest of them being in the left inferior frontal and left occipital lobe (Fig. 1). Her father and his niece also experienced recurrent headache, and both were found to have multiple cavernoma in magnetic resonance imaging. However, her father’s MRI scan revealed more infratentorial cavernoma than hers (Fig. 2). Her paternal grandfather died of intracerebral haemorrhage at the age of 60 years but had no genetic testing (not available that time). Her paternal grandfather’s twin brother also passed away at a young age, but the exact cause remained unknown. Her genetic testing confirmed c.55c>T, p(Arg19*) mutation in the exon 2 of the cerebral cavernous malformation 2 (CCM2) gene (supplementary file). This gene change is predicted to result in premature termination of the CCM2 protein at arginine 19, p(Arg19*). Testing was done by bidirectional Sanger sequencing. Her son, father and father’s
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s13760-020-01329-y) contains supplementary material, which is available to authorized users. * Shakya Bhattacharjee [email protected] 1
Department of Neurology, University Hospital Plymouth NHS Trust, Plymouth PL6 8DH, UK
Department of Neurosurgery, University Hospital Plymouth NHS Trust, Plymouth, UK
2
niece also tested positive for the same CCM2 gene mutation though her son remained asymptomatic (Fig. 3-pedigree chart). Previously, this nonsense mutation at amino acid 19 of exon 2 was found to be pathogenic for familial cerebral cavernous malformation in two European families [1]. Our patient was diagnosed as familial cerebral cavernous malformation due to the pathogenic mutation of the CCM2 gene. Despite the more extensive evidence of cavernous malformations in his father, the imaging findings suggest a low propensity for haemorrhage. CCMs are vascular malformations in the brain and spinal cord consisting of closely clustered enlarged capillary channels (caverns) with a single layer of endothelium without normal intervening brain parenchyma or mature vessel wall elements [1, 2]. The majority of the symptomatic individuals present between the second a
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