Cerebral cavernous malformation type 1 with retinal blood vessel tortuosity and KRIT1 gene mutation.
Bernadette KalmanZoltán MarótiÁrpád VadváriÁgnes HalmosiFerenc KálovitsBernadette KálmánPublished in: Ideggyogyaszati szemle (2019)
Cerebral cavernous malformations (CCMs) represent a relatively rare and heterogeneous clinical entity with mutations identified in three genes. Both sporadic and familial forms have been reported. We present a young female patient with episodic paresthesia and headaches, but without acute neurological deficits. Her mother had a hemorrhaged cavernoma surgically removed 21 years ago. Cranial magnetic resonance imaging revealed multiple cavernous malformations in the size of a few millimeters and the ophthalmologic exam detected retinal blood vessel tortuosity in the proband. Targeted exome sequencing analysis identified a nonsense mutation in exon 16 of the KRIT1 gene, which resulted in a premature stop codon and a truncated protein underlying the abnormal development of cerebral and retinal blood vessels. This mutation with pathogenic significance has been reported before. Our case points to the importance of a thorough clinical and molecular work up despite the uncertain neurological complaints, since life style recommendations, imaging monitoring and genetic counseling may have major significance in the long term health of the patient.
Keyphrases
- optical coherence tomography
- subarachnoid hemorrhage
- diabetic retinopathy
- magnetic resonance imaging
- genome wide
- cerebral ischemia
- copy number
- case report
- optic nerve
- single cell
- traumatic brain injury
- public health
- high resolution
- brain injury
- computed tomography
- mental health
- liver failure
- early onset
- genome wide identification
- late onset
- intensive care unit
- smoking cessation
- magnetic resonance
- drug delivery
- binding protein
- blood brain barrier
- protein protein
- social media
- hepatitis c virus
- transcription factor
- hiv infected
- climate change
- clinical practice
- amyotrophic lateral sclerosis
- genome wide analysis