Uncommon antenatal presentation of tuberous sclerosis

Abstract

This is a case of a newborn male who was diagnosed in the first month of life with tuberous sclerosis following an incidental ultrasound finding of unilateral ventriculomegaly at 36+6 weeks gestation. The antenatal ultrasound scan at 36+6 weeks was performed to establish fetal lie. Subsequent fetal brain MRI showed lesions that were initially thought to be haemorrhages, but turned out to be features of tuberous sclerosis. The baby also had five cardiac rhabdomyomas and multiple ash leaf macules. This was an unusual presentation of tuberous sclerosis, which on average is diagnosed later (mean age of diagnosis is 5 years). It also illustrates two important points: that subependymal nodules and haemorrhage can have a similar radiological appearance on antenatal MRI and cranial ultrasound and that routine antenatal ultrasound screening will miss the majority of cardiac rhabdomyomas.

The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis

“…e last two changes were considered major risk factors for the early occurrence of seizures in our patient. It is important to consider the similar radiologic appearance of subependymal hemorrhage and nodules in antenatal MRI and the necessity of differential diagnosis [11]. In this case, fetal MRI provided a better pregnancy surveillance by identifying the cause of hydrocephalus even if this implied later on only ultrasound monitoring.…”

Neuroimaging in tuberous sclerosis complex

“…Prenatal MRI is indicated in case of positive familial history or in case of TSC suggestive features at foetal US. These US features are mainly represented by cardiac rhabdomyomas; however, CTs and SENs can also be detected since early gestational period [61], while congenital SEGAs in newborns and foetuses are very rare [62].…”

“…Most of the diagnoses occur between the second half of the second trimester and the first half of the third trimester, with MRI more sensitive than US in disclosing sonographically occult foetal brain lesions but with no difference in the time of detection [63]. At first level foetal cranial US, the two most common findings are represented by ventriculomegaly and echogenic lesions within lateral ventricles walls, sometimes resembling to germinal matrix haemorrhages [61]. Second level foetal brain MRI is generally carried on a 1.5 T unit with a minimum protocol consisting of T2w single-shot fast spin echo imaging on the three orthogonal planes and T1w twodimensional gradient echo.…”