Cerebral cavernous malformation type 1 with retinal blood vessel tortuosity and krit1 gene mutation

Tibor Kalmár, Zoitán Maróti, Árpad Vadvári, Ágnes Halmosi, Ferenc Kálovits, B. Kálmán

Research output: Contribution to journalArticle

Abstract

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 with-out acute neurological deficits. Her mother had a hemorrhaged cavernomo 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.

Original languageEnglish
Pages (from-to)273-277
Number of pages5
JournalIdeggyogyaszati szemle
Volume72
Issue number7-8
DOIs
Publication statusPublished - Jul 30 2019

Fingerprint

Central Nervous System Cavernous Hemangioma
Retinal Vessels
Nonsense Codon
Exome
Mutation
Paresthesia
Genetic Counseling
Genes
Headache
Life Style
Exons
Mothers
Magnetic Resonance Imaging
Health
Proteins

Keywords

  • Cerebral cavernous malformations
  • Kritj gene
  • Mri
  • Retinal vascular tortuosity

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Cerebral cavernous malformation type 1 with retinal blood vessel tortuosity and krit1 gene mutation. / Kalmár, Tibor; Maróti, Zoitán; Vadvári, Árpad; Halmosi, Ágnes; Kálovits, Ferenc; Kálmán, B.

In: Ideggyogyaszati szemle, Vol. 72, No. 7-8, 30.07.2019, p. 273-277.

Research output: Contribution to journalArticle

Kalmár, Tibor ; Maróti, Zoitán ; Vadvári, Árpad ; Halmosi, Ágnes ; Kálovits, Ferenc ; Kálmán, B. / Cerebral cavernous malformation type 1 with retinal blood vessel tortuosity and krit1 gene mutation. In: Ideggyogyaszati szemle. 2019 ; Vol. 72, No. 7-8. pp. 273-277.
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