Familial cerebral, hepatic, and retinal cavernous angiomas: a new syndrome.
New, non-invasive neuroradiological techniques [computed tomography (CT) and magnetic resonance (MR)] have led to reassessment of the incidence of cavernous angioma of the brain (CCA), which is sometimes multiple and associated with cavernomas in other organs. CCA is known to be familial, with dominant autosomal transmission. This paper concerns a family with multiple CCA, sometimes in association with liver angiomas, in ten members belonging to four different generations. These malformations can vary in clinical expression: no neurological symptoms have been detected in subjects from the first or second generations, but they were found in adult age in subjects from the third generation; two fourth-generation patients came under our observation at 2.5 years of age. Symptoms include partial epileptic fits, which sometimes become generalized later and which are generally controlled adequately by therapy. Patients also present paresthesia and occasional motor deficiencies corresponding to CCA bleeding episodes; these symptoms have always abated with medical treatment alone. None of the patients are mentally retarded or restricted in their daily lives. Neuroradiological investigations (CT, MR, angiography) reveal typical multiple brain lesions in all patients. Given the first-generation patient's clinical history of symptomatic hepatomegaly and the postmortem finding of multiple liver and brain cavernomas, liver ultrasonography was performed on all members of the family. Liver angioma was detected in two subjects from the second and third generations. Retinal angioma was detected in one patient with quadrantanopsia.(ABSTRACT TRUNCATED AT 250 WORDS)
Drigo
P
P
Department of Pediatrics, University of Padua, Italy.
Mammi
I
I
Battistella
P A
PA
Ricchieri
G
G
Carollo
C
C
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005134:Eye Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008113:Liver Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed