Challenges in the management of a case of tuberous sclerosis
- PMID: 24250049
- PMCID: PMC3830165
- DOI: 10.4103/0972-6748.119635
Challenges in the management of a case of tuberous sclerosis
Abstract
Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina. We hereby report therapeutic challenges faced in a case of an adolescent male suffering from tuberous sclerosis.
Keywords: Management; neuropsychiatric manifestations; tuberous sclerosis complex.
Conflict of interest statement
Figures
Similar articles
-
Neuropsychiatric Manifestations of Tuberous Sclerosis and Management Options: A Narrative Review.Prim Care Companion CNS Disord. 2024 Jan 4;26(1):22nr03481. doi: 10.4088/PCC.22nr03481. Prim Care Companion CNS Disord. 2024. PMID: 38198710 Review.
-
Genetics and molecular biology of tuberous sclerosis complex.Curr Genomics. 2008 Nov;9(7):475-87. doi: 10.2174/138920208786241243. Curr Genomics. 2008. PMID: 19506736 Free PMC article.
-
Gastric Adenocarcinoma in Association with Tuberous Sclerosis: Case report.Sultan Qaboos Univ Med J. 2009 Apr;9(1):75-8. Epub 2009 Mar 16. Sultan Qaboos Univ Med J. 2009. PMID: 21509279 Free PMC article.
-
Tuberous sclerosis complex: a review.J Pediatr Health Care. 2007 Mar-Apr;21(2):108-14. doi: 10.1016/j.pedhc.2006.05.004. J Pediatr Health Care. 2007. PMID: 17321910 Review.
-
Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):374-378. doi: 10.1002/ajmg.c.31656. Epub 2018 Sep 27. Am J Med Genet C Semin Med Genet. 2018. PMID: 30260069
References
-
- Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol. 2004;19:643–9. - PubMed
-
- Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci. 1991;615:125–7. - PubMed
-
- Ali M, Girimaji SC, Markandaya M, Shukla AK, Sacchidanand S, Kumar A. Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. Acta Neurol Scand. 2005;111:54–63. - PubMed
-
- Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9:88–100. - PubMed
-
- Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: Genotype– Phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet. 2005;13:731–41. - PubMed