Clinical impact of CCM mutation detection in familial cavernous angioma.
BACKGROUND
A 3-year-old Bosnian girl with a large symptomatic brainstem and multiple supratentorial cavernous angiomas, who underwent neurosurgical treatment, is presented. As multiple cavernomas are more common in familial cases, genetic analyses and neuroradiological imaging were performed in the patient and her parents to see whether there was any evidence for inheritance. This information is important for genetic counseling and provision of medical care for at-risk relatives. Currently, no recommendation is available on how to manage these cases.


RESULTS
Genetic analyses demonstrated a novel CCM1 frameshift mutation (c.1683_1684insA; p.V562SfsX6) in the child and the asymptomatic 27-year-old mother. Sensitive gradient-echo magnetic resonance imaging of the mother revealed multiple supratentorial lesions, whereas analogous imaging of the father showed no pathological findings.


CONCLUSIONS
This case exemplifies that seemingly sporadic cases with multiple lesions might well be hereditary and that presymptomatic genetic testing of family members may identify relatives for whom clinical and neuroradiological monitoring is indicated.
Sürücü
Oguzkan
O
Department of Neurosurgery, Philipps-University Marburg, Baldingerstrasse, 35033, Marburg, Germany.
Sure
Ulrich
U
Gaetzner
Sabine
S
Stahl
Sonja
S
Benes
Ludwig
L
Bertalanffy
Helmut
H
Felbor
Ute
U
D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006392:Hemangioma, Cavernous / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*
D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins