Abstract
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. (a) This association of brain, liver and retinal angiomas had not been reported in the past; (b) the significant radiological findings contrast sharply with the relatively benign clinical picture; and (c) expression of the disease varies in consecutive generations, with an increasingly early onset. The authors emphasize the need for neuroradiological studies using CT and MR, liver ultrasonography, ophthalmologic evaluation, and genetic evaluation for CCA patients and their relations.
Similar content being viewed by others
References
Cosgrove GR, Bertrand G, Fontaine S, Robitaille Y, Melanson D (1988) Cavernous angiomas of the spinal cord. J Neurosurg 68: 31–36
Dobyns WB, Michels VV, Groover RV (1987) Familial cavernous malformations of the CNS and retina. Ann Neurol 21: 578–583
Filling-Katz MR, Levin SW, Patronas NJ (1992) Terminal transverse limb defects associated with familial cavernous angiomatosis. Am J Med Genet 42: 346–351
Hayman LA, Evans RA, Ferrell RE (1982) Familial cavernous angiomas. Natural history and genetics study over a 5-year period. Am J Med Genet 11: 147–160
Jellinger K (1986) Vascular malformations of the central nervous system: a morphological overview. Neurosurg Rev 9: 177–216
Lasjaunias P, Burrows P, Planet C (1986) Developmental venous anomalies (DVA): the so-called angioma. Neurosurg Rev 9: 233–244
Lejeune JP, Cambelle SG, Christiaens JL (1989) Formes familiales de cavernomas. Neurochirurgie 35: 111–112
Martin NA, Stein BM, Wilson CB (1984) Arteriovenous malformations of the posterior fossa. In: Wilson CB, Stein NM (eds) Intracranial arteriovenous malformations. Williams & Wilkins, Baltimore, pp 209–221
Mazza C, Scienza R, Beltramello A, Da Pian R (1991) Cerebral cavernous malformations (cavernomas) in the pediatric age-group. Child's Nerv Syst 7: 139–146
McCornick WF (1983) The pathology of vascular (“arteriovenous”) malformations. J Neurosurg 59: 348–350
Requena I, Arias M, Lopez-Ibor L (1991) Cavernomas of the CNS: clinical and neuroimaging manifestations in 47 patients. J Neurol Neurosurg Psychiatry 54: 590–594
Rigamonti D, Hadley MN, Drayr BP (1988) Cerebral cavernous malformations Incidence and familial occurrence. N Engl J Med 319: 343–347
Robinson JR Awad IA (1991) Natural history of the cavernous angioma. J Neurosurg 75: 709–714
Steichen-Gersdorf E, Felber S, Fuchs W, Russeger L, Twerdy K (1992) Familial cavernous angiomas of the brain: observations in a four-generation family. Eur J Pediatr 151: 861–863
Valavanis A, Schefer S, Wichmann W (1990) Cavernomas and venous angiomas of the brain. Neuroradiologia 3 [Suppl 2]: 89–93
Voight K, Yasargil MG (1976) Cerebral cavernous haemangiomas or cavernomas: incidence, pathology, localization, diagnosis, clinical pictures and treatment. Neurochirurgia (Stuttg) 19: 59–68
Yasargil MG (1988) AVM of the brain: clinical considerations, general and special operative techniques, surgical results, non operated cases, cavernous and venous angiomas, neuroanesthesia. Thieme, Stuttgart
Zimmerman RS, Spetzler RF, Stuart Lee K (1991) Cavernous malformations of the brain stem. J Neurosurg 75: 32–39
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Drigo, P., Mammi, I., Battistella, P.A. et al. Familial cerebral, hepatic, and retinal cavernous angiomas: a new syndrome. Child's Nerv Syst 10, 205–209 (1994). https://doi.org/10.1007/BF00301155
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00301155