title: [Familial multiple cavernomatosis].
abstract: We present a family study of multiple cavernomatosis which affected a boy of six, his mother and two brothers. It was seen clinically as epileptic crises, focal neurological defects and frequent headaches. In our case, the condition started as a syndrome of intracranial hypertension with progressive headache and vomiting. During the illness, localizing neurological signs due to bleeding were seen. Amongst these were acute left hemiparesia and paralysis of vertical gaze. Other members of the family remain symptom-free. In a search for angiomas at other sites none were found in the patient or his family. Recently the gene giving rise to the familial cerebral cavernosa malformation has been found to be a locus on chromosome 7. We discuss the findings on neuro-imaging, emphasizing the importance of magnetic resonance (MR) both in diagnosis and finding affected asymptomatic family members, because of its great sensitivity and specificity. Angiography is not a suitable technique for this since they behave as hidden malformations. We also point out its importance as a way of following-up the illness and for evaluation of possible complications due to progressive growth or sudden haemorrhage, which may indicate the need for treatment. Finally we emphasize the different characteristics of MR signals in this type of lesion since cavernomatasa malformations are dynamic lesions.
authors.affiliation: Sección de Neurología, Hospital Torrecárdenas, Almeria, España.
authors.forename: F
authors.initials: F
authors.lastname: Terriza
authors.forename: Y
authors.initials: Y
authors.lastname: Amrani
authors.forename: J J
authors.initials: JJ
authors.lastname: Asencio
authors.forename: E
authors.initials: E
authors.lastname: Goberna
authors.forename: A
authors.initials: A
authors.lastname: Casado
authors.forename: J I
authors.initials: JI
authors.lastname: Peralta
mesh_terms: D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D002426:Cavernous Sinus / Q000473:pathology*; D002648:Child; D017809:Fatal Outcome; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*