EurekaMag
+ Translate
+ Most Popular
The pigeon tick (Argas reflexus): its biology, ecology, and epidemiological aspects
Prevalence of hemoglobin abnormalities in Kebili (Tunisian South)
Lipogranuloma: a preventable complication of dacryocystorhinostomy
Value of basal plasma cortisol assays in the assessment of pituitary-adrenal insufficiency
Bees from the Belgian Congo. The acraensis group of Anthophora
Placing gingival retraction cord
Total serum IgE, allergy skin testing, and the radioallergosorbent test for the diagnosis of allergy in asthmatic children
Acariens plumicoles Analgesoidea parasites des oiseaux du Maroc
Injuries of terminal phalanges of the fingers in children
Biology of flowering and nectar production in pear (Pyrus communis)
Das Reliktvorkommen der Aspisviper (Vipera aspis L.) im Schwarzwald
Hydrological modelling of drained blanket peatland
Pathologic morphology and clinical significance of the anomalous origin of the left circumflex coronary artery from the right coronary artery. General review and autopsy analysis of 30 cases
Cyto genetic analyses of lymphocyte cultures after exposure to calcium cyclamate
Axelrodia riesei, a new characoid fish from Upper Rio Meta in Colombia With remarks concerning the genus Axelrodia and description of a similar, sympatric, Hyphessobrycon-species
Favorable evolution of a case of tuberculosis of pancreas under antibiotic action
RIFM fragrance ingredient safety assessment, Valencene, CAS Registry Number 4630-07-3
Parenteral microemulsions: an overview
Temperate pasture: management for grazing and conservation
Evaluation of a new coprocessed compound based on lactose and maize starch for tablet formulation
Thermal expansion and cracking of three confined water-saturated igneous rocks to 800C
Revision of the genera of the tribe Stigmoderini (Coleoptera: Buprestidae) a discussion of phylogenetic relationships
Anal tuberculosis. Report of a case
Gastric tuberculosis in the past and present
Adaptive responses of the cardiovascular system to prolonged spaceflight conditions: assessment with Holter monitoring

Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: a case report


Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: a case report



Clinical Neurology and Neurosurgery 112(8): 729-732



ISSN/ISBN: 0303-8467

PMID: 20646827

DOI: 10.1016/j.clineuro.2010.05.010

Cavernous malformations (CMs) of the central nervous system can occur in a sporadic condition or as a familial form with an autosomal-dominant inherited pattern. Apart from a family history, some clinical features may help to identify familial CMs. We demonstrate clinical, neuroradiological, pathological, and genetic data of a patient with cerebral and spinal CMs. The presence of multiple cerebral CMs and distinct cutaneous vascular lesions, including hyperkeratotic cutaneous capillary-venous malformations, in this patient suggested familial CMs. A genetic study confirmed a nonsense mutation (c.1708A>T) in the KRIT1 gene.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 051976980

Download citation: RISBibTeXText

Related references

Widespread central nervous system cavernous malformations associated with café-au-lait skin lesions. Case report. Journal of Neurosurgery 99(2): 412-415, 2003

Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. Cerebrovascular Diseases 38(4): 311-312, 2014

Hyperkeratotic cutaneous vascular malformation associated with familial cerebral cavernous malformations (FCCM) with KRIT1/CCM1 mutation. European Journal of Dermatology: Ejd 24(2): 255-257, 2014

Mystery Case: Cutaneous lesions in KRIT1-associated cerebral cavernous malformations. Neurology 83(14): E133-E134, 2014

Cavernous malformations of the pediatric central nervous system. Operative Techniques in Neurosurgery 5(3): 150-154, 2002

Cavernous angiomatosis of the central nervous system starting in the medulla. A case report. La Radiologia Medica 96(5): 521-522, 1998

Cavernous malformations of the central nervous system in the pediatric age group. Pediatric Neurosurgery 45(2): 81-104, 2009

Familial cavernous malformations of the central nervous system and retina. Annals of Neurology 21(6): 578-583, 1987

Treatment options for central nervous system cavernous malformations in children. European Journal of Paediatric Neurology: Ejpn: Official Journal of the European Paediatric Neurology Society 15(3): 281, 2011

Cavernous malformations associated with dural arteriovenous shunts in the central nervous system. Neuroradiology 55(2): 187-192, 2013

Multiple cavernous malformations as a cause for superficial siderosis of the central nervous system. Acta Neurologica Belgica 120(3): 755-757, 2020

Vascular malformations of the central nervous system radiologic and epidemiologic study ii. arteriovenous malformations. Radiologia 27(2): 77-80, 1985

Temporal clustering of hemorrhages from untreated cavernous malformations of the central nervous system. Neurosurgery 49(1): 15-24; Discussion 24-5, 2001

CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations. Journal of Dermatology 43(8): 962-963, 2016

A novel Krit-1 mutation in Han family with cerebral cavernous malformation. Zhonghua Bing Li Xue Za Zhi 32(3): 220-225, 2003