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Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation
K J Brackley1, P A Farndon, J B Weaver
1Department of Fetal Medicine, Birmingham Women's Hospital, Edgbaston, UK.
Insights
Early ultrasound detected fetal brain abnormalities in a case of tuberous sclerosis (TSC). This case highlights the potential for prenatal diagnosis of TSC through advanced neuroimaging, despite variable genetic expression.
Area of Science:
- Medical imaging
- Genetics
- Neurology
Background:
- Tuberous sclerosis (TSC) is a genetic disorder causing tumors in organs.
- Prenatal diagnosis of TSC can be challenging due to variable expression.
Observation:
- Cranial abnormalities were detected via ultrasound at 14 weeks' gestation.
- Asymmetrical ventricular enlargement persisted antenatally.
- MRI at 26 weeks suggested a neuronal migration disorder.
Findings:
- Fetal TSC was confirmed by DNA linkage analysis.
- Cardiac rhabdomyomata were visualized later in gestation (30 weeks).
- Postnatal diagnosis confirmed severe neuropathology, developmental delay, and intractable seizures.
Implications:
- Early cranial imaging may improve prenatal diagnosis of TSC.
- Altered TSC2 activity is proposed as a mechanism for variable expression and neuronal migration issues.
- This case underscores the importance of considering TSC in fetuses with unexplained neurological findings.
Abstract:
We report the ultrasound detection of cranial abnormalities at 14 weeks' gestation in a fetus subsequently confirmed as having tuberous sclerosis using DNA linkage analysis within the affected family. The presence of asymmetrical ventricular enlargement persisted antenatally. Magnetic resonance imaging at 26 weeks indicated the possibility of poor gyral formation consistent with a neuronal migration disorder. Cardiac rhabdomyomata were not visualized on ultrasound scan until 30 weeks' gestation. Postnatal cranial ultrasound confirmed the significant neuropathology which was manifested by severe developmental delay and intractable fits in the child. The potential benefits of earlier diagnosis of tuberous sclerosis by cranial imaging are discussed, although in this patient the routine booking scan resulted in a path of prenatal diagnosis being undertaken which had originally been declined. A mechanism is proposed to explain the variable expression of tuberous sclerosis within this family based on altered TSC2 activity affecting neuronal migration.
