INTRODUCTION AND 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. CONCLUSION: 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.
INTRODUCTION AND 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. CONCLUSION: 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.
Authors: Helmut Bertalanffy; Ludwig Benes; Takahito Miyazawa; Olaf Alberti; Adrian M Siegel; Ulrich Sure Journal: Neurosurg Rev Date: 2002-03 Impact factor: 3.042
Authors: Christina L Liquori; Michel J Berg; Ferdinando Squitieri; Monica Ottenbacher; Marielle Sorlie; Tracey P Leedom; Milena Cannella; Vittorio Maglione; Louis Ptacek; Eric W Johnson; Douglas A Marchuk Journal: Hum Mutat Date: 2006-01 Impact factor: 4.878
Authors: S Laberge-le Couteulx; H H Jung; P Labauge; J P Houtteville; C Lescoat; M Cecillon; E Marechal; A Joutel; J F Bach; E Tournier-Lasserve Journal: Nat Genet Date: 1999-10 Impact factor: 38.330
Authors: Dominique J Verlaan; Sandra B Laurent; Daniel L Rochefort; Christina L Liquori; Douglas A Marchuk; Adrian M Siegel; Guy A Rouleau Journal: Ann Neurol Date: 2004-05 Impact factor: 10.422
Authors: C Denier; S Goutagny; P Labauge; V Krivosic; M Arnoult; A Cousin; A L Benabid; J Comoy; P Frerebeau; B Gilbert; J P Houtteville; M Jan; F Lapierre; H Loiseau; P Menei; P Mercier; J J Moreau; A Nivelon-Chevallier; F Parker; A M Redondo; J M Scarabin; M Tremoulet; M Zerah; J Maciazek; E Tournier-Lasserve Journal: Am J Hum Genet Date: 2004-01-22 Impact factor: 11.025
Authors: Christina L Liquori; Michel J Berg; Adrian M Siegel; Elizabeth Huang; Jon S Zawistowski; T'Prien Stoffer; Dominique Verlaan; Fiyinfolu Balogun; Lori Hughes; Tracey P Leedom; Nicholas W Plummer; Milena Cannella; Vittorio Maglione; Ferdinando Squitieri; Eric W Johnson; Guy A Rouleau; Louis Ptacek; Douglas A Marchuk Journal: Am J Hum Genet Date: 2003-11-17 Impact factor: 11.025