Tuberous sclerosis in pregnancy: a rare genetic disease requiring multidisciplinary approach in pregnancy

Shikha Madan; Pardeep Kumar; Smriti Anand; Savita Singhal; Neetu Sangwan; Monika Dalal

doi:10.18203/2320-1770.ijrcog20202763

Authors

Shikha Madan Department of Obstetrics and Gynecology, PGIMS, Rohtak, Haryana, India
Pardeep Kumar Department of Anaesthesia, PGIMS, Rohtak, Haryana, India
Smriti Anand Department of Obstetrics and Gynecology, PGIMS, Rohtak, Haryana, India
Savita Singhal Department of Obstetrics and Gynecology, PGIMS, Rohtak, Haryana, India
Neetu Sangwan Department of Obstetrics and Gynecology, PGIMS, Rohtak, Haryana, India
Monika Dalal Department of Obstetrics and Gynecology, PGIMS, Rohtak, Haryana, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20202763

Keywords:

Angiofibrom, Tuberous sclerosis complex

Abstract

Tuberous sclerosis complex (TSC) is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). Due to the wide phenotypic variability in TSC, the disease is often not recognized. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International tuberous sclerosis complex consensus conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumour suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. Authors present with a rare case report of a patient with TSC presenting at term.

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References

Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 2015;14:733-45.

DiMario FJ, Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex. Pediatr Clin North Am. 2015;62:633-48.

Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol. 1999;20:907-16.

Rodrigues DA, Gomes CM, Costa IMC. Tuberous sclerosis complex. An Bras Dermatol. 2012;87:184-96.

Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK. International tuberous sclerosis consensus group. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International tuberous sclerosis consensus group. J Am Heart Assoc. 2014;3:e001493.

Northrup H, Krueger DA. International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International tuberous sclerosis complex consensus conference. Pediatr Neurol. 2013;49(4):243-54.

Sadowski K, Kotulska K, Schwartz RA, Józwiak S. Systemic effects of treatment with mTOR inhibitors in tuberous sclerosis complex: a comprehensive review. J Eur Acad Dermatol Venereol. 2016;30:586-94.

Jacks SK, Witman PM. Tuberous sclerosis complex: an update for dermatologists. Pediatr Dermatol. 2015;32:563-70.

MacKeigan JP, Krueger DA. Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex. Neuro Oncol. 2015;17:1550-9.

Ng KH, Ng SM, Parker A. Annual review of children with tuberous sclerosis. Arch Dis Child Educ Pract Ed. 2015;100:114-21.

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.

Portocarrero LKL, Quental KN, Samorano LP, Oliveira ZNP, Rivitti-Machado MCM. Tuberous sclerosis complex: review based on new diagnostic criteria. An Bras Dermatol. 2018;93(3):323-31.