Abstract
Familial tuberous sclerosis probably occurs more often than is indicated by the literature: many family members show signs of being carriers of the gene for the disease when carefully examined. This article reports on a family with documented tuberous sclerosis in three generations and discusses the examination and investigation of at-risk family members, including the newborn, for signs of the disease. The potential teratogenic effects of anticonvulsants, used to control seizures in tuberous sclerosis, are also discussed.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bender B. L., Yunis E. J. The pathology of tuberous sclerosis. Pathol Annu. 1982;17(Pt 1):339–382. [PubMed] [Google Scholar]
- Bundey S., Evans K. Tuberous sclerosis: a genetic study. J Neurol Neurosurg Psychiatry. 1969 Dec;32(6):591–603. doi: 10.1136/jnnp.32.6.591. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cassidy S. B., Pagon R. A., Pepin M., Blumhagen J. D. Family studies in tuberous sclerosis. evaluation of apparently unaffected parents. JAMA. 1983 Mar 11;249(10):1302–1304. [PubMed] [Google Scholar]
- Crawford D. C., Garrett C., Tynan M., Neville B. G., Allan L. D. Cardiac rhabdomyomata as a marker for the antenatal detection of tuberous sclerosis. J Med Genet. 1983 Aug;20(4):303–304. doi: 10.1136/jmg.20.4.303. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Diamant S., Sharaz J., Holtzman M., Laniado S. Echocardiographic diagnosis of cardiac tumors in symptomatic tuberous sclerosis patients. Clin Pediatr (Phila) 1983 Apr;22(4):297–299. doi: 10.1177/000992288302200410. [DOI] [PubMed] [Google Scholar]
- Dwyer J. M., Hickie J. B., Garvan J. Pulmonary tuberous sclerosis. Report of three patients and a review of the literature. Q J Med. 1971 Jan;40(157):115–125. [PubMed] [Google Scholar]
- Fleury P., de Groot W. P., Delleman J. W., Verbeeten B., Jr, Frankenmolen-Witkiezwicz I. M. Tuberous sclerosis: the incidence of sporadic cases versus familial cases. Brain Dev. 1980;2(2):107–117. doi: 10.1016/s0387-7604(80)80031-3. [DOI] [PubMed] [Google Scholar]
- Lagos J. C., Gomez M. R. Tuberous sclerosis: reappraisal of a clinical entity. Mayo Clin Proc. 1967 Jan;42(1):26–49. [PubMed] [Google Scholar]
- Monaghan H. P., Krafchik B. R., MacGregor D. L., Fitz C. R. Tuberous sclerosis complex in children. Am J Dis Child. 1981 Oct;135(10):912–917. doi: 10.1001/archpedi.1981.02130340024010. [DOI] [PubMed] [Google Scholar]
- Ostör A. G., Fortune D. W. Tuberous sclerosis initially seen as hydrops fetalis: report of a case and review of the literature. Arch Pathol Lab Med. 1978 Jan;102(1):34–39. [PubMed] [Google Scholar]
- Rattan P. K., Knuppel R. A., Scerbo J. C., Foster G. Tuberous sclerosis in pregnancy. Obstet Gynecol. 1983 Sep;62(3 Suppl):21s–22s. [PubMed] [Google Scholar]
- Sharp D., Robertson D. M. Tuberous sclerosis in an infant of 28 weeks gestational age. Can J Neurol Sci. 1983 Feb;10(1):59–62. doi: 10.1017/s0317167100044590. [DOI] [PubMed] [Google Scholar]