Diverse presentation of connective tissue disorders in pregnancy

Mini Bedi, Sandeep Kaur, Prashant Patil, Kamaljeet Kaur, Harbhajan Kaur, Harkiran Kaur


Connective tissue disorders (CTD) include a variety of chronic multisystem disorders including autoimmune conditions. Many of these conditions affect women of childbearing age and therefore pregnancy poses an important challenge for the caregivers. The precise knowledge of therapeutic safety and the effect of disease on pregnancy and vice versa are important to achieve best outcome. Hence, it is imperative to have a vast knowledge of disease with proper preconception counselling. We report series of cases of connective tissue disorders in pregnancy: tuberous sclerosis (TS), systemic lupus erythmatosis (SLE) and neurofibromatosis (NF) type 1. The first case with tuberous sclerosis was associated with obstetric complications. In both cases of SLE, we observed preterm delivery and IUGR. However, the course of SLE remained the same in both the cases. The case with NF 1 taught us that a normal obstetric outcome could be expected in pregnant women.


Tuberous sclerosis, Neurofibromatosis, SLE, Connective tissue disorders, Pregnancy

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Yucesoy G, Ozkan S, Bodur H, Tan T, Calişkan E, Vural B, et al. Maternal and perinatal outcome in pregnancies complicated with hypertensive disorder of pregnancy: a seven year experience of a tertiary care center. Arch Gynecol Obstet. 2005;273:43-9.

Cauldwell M, Nelson-Piercy C. Maternal and fetal complications of systemic lupus erythematosus. Obstet Gynaecol. 2012;14:167-74.

Weiss SW, Goldblum JR. Enzinger and Weiss’s Soft Tissue Tumors 4th Edition, St Luis, Mo: Mosby Inc, 2001.

Weismann A, Jakobi P, Zaidisk R. Neurofibromatosis and pregnancy. An update. J Reprod Med. 1993;38:890-6.

Sangwan N, Duhan N. Normal obstetric outcome in neurofibromatosis-1 complicating pregnancy. J Science. 2008;20:197-8.

Schwartz RA, Jozwiak S, Pedersen R, Bawle EV, Windle ML, Feld LG, et al. Genetics of Tuberous Sclerosis. Medscape. 2013.

Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC. Bradley’s Neurology in clinical practice. 6 thed Philadelphia: Elsevier. 2012;1508-14.

Gupta N, Singh N, Sarangi S, Dalmia S, Mittal S. Fetal cardiac rhabdomyoma with maternal tuberous sclerosis complicating pregnancy. Arch Gynecol Obstet. 2008;278(2):169-70.

Khanna PC, Godinho S, Pungavkar SA, Patkar DP. Ultrafast MRI in the prenatal diagnosis of Bourne ville’s tuberous sclerosis. Neurol India. 2005;53(3):349-50.

Pipitone S, Mongiovì M, Grillo R, Gagliano S, Sperandeo V. Cardiac rhabdomyoma in intrauterine life: clinical features and natural history. A case series and review of published reports. Ital Heart J. 2002;3(1):48-52.

Ruiz-Irastorza G, Khamashta MA. Lupus and pregnancy: integrating clues from the bench and bedside. Eur J Clin Invest. 2011;41:672-8.

Ruiz-Irastorza G, Ramos-Casals M, Brito-Zeron P, Khamashta MA. Clinical efficacy and side effects of antimalarials in systemic lupus erythematosus: a systematic review. Ann Rheum Dis. 2010;69:20-8.

Strom CM, Strom S, Levine E, Ginsberg N, Barton J, Verlinsky Y. Obstetric outcomes in 102 pregnancies after preimplantation genetic diagnosis. Am J Obstet Gynecol. 2000;182:1629-32.

Kosec V, Márton I. Neurofibromatosis type 1 in pregnancy. Coll Antropol. 2006;30:247-9.

Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Med Genet. 1996;66:7-10.

Leslie KK, White M, Sujansky E. Utilization of Polymerase Chain reaction (PCR) for Identification of Estrogen Receptors in Neurofibromas; Potential Clinical Significance”. National Neurofibromatosis Foundation. Annual Clinical Care Conference. 1992.