Objective

To present a case of pregnancy with tubular sclerosis

complex TCS, emphasising the clinical challenges &

outcomes and to provide a brief review of the literature on

maternal and foetal implications of TSC during pregnancy.

Methods

We report a case of 22 year old primigravida with a

known diagnosis of Tuberous sclerosis complex , at the

point of diagnosis she had cardiac rhabdomyoma

,epilepsy ,cerebral calcification and confirmed autism ;

the pregnancy was planned. A multidisciplinary team

including obstetricians, urologist and cardiologist

oversaw her care. Maternal and foetal outcomes were

monitored throughout pregnancy through clinical

evaluations, imaging studies and lab investigations. A

review of literature was conducted to conceptualise this

case’s management and evaluate current

recommendations .

Tuberous Sclerosis in Pregnancy

A case report and Comprehensive Literature Review

S Mahadasu and S Alomari

Results

At booking , the patient was 5 years free from

seizure & AED therapy was discontinued 2 years

ago .Anomaly scan showed short long bones

and dysgenesis of corpus callosum .

At 22 weeks ,aminocentesis and SNP

array confirmed the absence of genetic

imbalance no copies of the TSC mutated genes

were found. Repeated renal scan did not show

renal tuber lesions .At 34 weeks of gestation she

developed significant proteinuria with a PCR of

34 and mild to moderate pregnancy induced

hypertension controlled by labetolol, her PLGF

remained normal at 22 , there was an element of

mild renal function impairment .The fetal growth

was always between 3rd- 10th intergrowth

centile with normal liquor volume and normal

Doppler of the umbilical artery ,at 38+3 weeks

labour was induced as she developed symptoms

of preeclampsia in the form of headache blurred

vision epigastric pain, knee & ankle reflexes were

increased, and her blood pressure was

increased to 148 / 100 & further deterioration in

renal function and she gave vaginal birth to a

living growth restricted newborn birth weight at

0.35 intergrowth centile

Discussion

The literature highlights the increased risks of maternal

complications such as preeclampsia and seizures, potential

foetal fetal inheritance of TSC mutation. increased risk of

disease progression , new disease related manifestation and

obstetrical complications have also been described in

pregnant with TSC Including haemorrhage from ruptured renal

tumours ,pre term deliveries pre eclampsia ,preterm premature

rupture of membranes ,acute renal failure and

placental abruption.

In the past various therapeutic approaches were adopted to

improve the clinical effects of this disease ,while all of these

therapeutic strategies are useful and are still used and

indicated ,they are symptomatic therapies based on the

individual symptoms of the disease and therefore not fully

effective in modifying long term outcomes , however, the

introduction of the inhibitors of mTORC1 which allow

restoration of the metabolic homeostasis in mutant cells

and potentially eliminating most of the clinical manifestation

associated with Tuberous sclerosis complex markes a

paradigm shift in the management of this disease .Two mTORi ;

Everolimus & Sirolimus , FDA class C , lack of adequately

controlled studies prevent an accurate assessment of the risk

posed to the developing foetus

Conclusion

This case and literature

review underscores the

importance of

individualised care and a

multidisciplinary

approach in managing

pregnancies

complicated by TSC.

Awareness of potential

maternal and foetal risk

allows for early

intervention and

improved outcome.

Further studies are

needed to establish

standardised protocol

for the management of

pregnancy in TSC.

References

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