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

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.

Caesarean scar pregnancy: a case report with review of management options

Cesarean scar pregnancy is a rare but life-threatening complication. It is the abnormal implantation of gestational sac into myometrium and fibrous scar of previous cesarean section. Its incidence is on rising trend due to increase in rate of cesarean section all over the world. A thirty years old second gravida presented at eight weeks of gestation with complaints of bleeding per vaginum and pain lower abdomen. She was diagnosed as a case of cesarean scar pregnancy (CSP) on ultrasonography and confirmation of diagnosis was done on magnetic resonance imaging. Medical management of scar pregnancy was done successfully with combination of mifepristone and methotrexate. Cesarean scar pregnancy could be catastrophic, if not managed well in time. Management includes both surgical and medical options. Treatment has to be individualized depending on patient’s hemodynamic profile, size of gestational sac, desire for future fertility, compliance for follow up and availability of interventional radiology.

Normal Obstetric Outcome in Neurofibromatosis-1 Complicating Pregnancy.

Neurofibromatosis (NF), a genetic disorder, has increased risk of obstetric complications as well as aggravation of maternal disease. However, here is a case of Neurofibromatosis associated with normal obstetric outcome despite the aggravation of dermatological lesions.