Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation

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. Copyright © 1999 John Wiley & Sons, Ltd.

Contribution of ultrafast magnetic resonance imaging in prenatal diagnosis of sonographically undetected cerebral tuberous sclerosis associated with cardiac rhabdomyomas

“…Tworetzky et al (2003) found that 95% of fetuses and neonates with multiple cardiac tumors have tuberous sclerosis complex. With the advent of MRI technology, prenatal MRI has been shown to be a useful adjunct to ultrasound for the precise determination of the extent of cerebral involvement of tuberous sclerosis (Mirlesse et al, 1992;Revel et al, 1993;Werner et al, 1994;Sonigo et al, 1996Sonigo et al, , 1998Brackley et al, 1999;Sgro et al, 1999;Levine et al, 2000;Gorincour et al, 2003). As presented in this case, prenatal MRI is particularly useful for the detection of the cerebral tuberous sclerosis lesions when prenatal ultrasound fails to detect.…”

Tuberous Sclerosis in a 19-Week Fetus: Immunohistochemical and Molecular Study of Hamartin and Tuberin

“…Many findings that are highly specific for tuberous sclerosis complex are not apparent until late childhood or adulthood. Cardiac rhabdomyomas and cortical tubers are occasionally seen in fetuses [25][26][27]. Hamartin and tuberin have both been reported to be broadly expressed in human adult brain as well as in many other organs [28 -32].…”

Carbohydrate–Protein Interactions: A 3D View by NMR

“…In hemochromatosis, the iron overloaded liver would show low signal intensity in a T2‐weighted image19. In tuberous sclerosis, pathognomonic periventricular subependymal nodules have been demonstrated as early as 14 weeks and rhabdomyomas have also been detected prenatally20, 21. Finally, neuronal migrational disorders such as lissencephaly or schizencephaly may not be visible or suspected on ultrasound and prenatal MRI seems particularly useful in making these diagnoses22, 23.…”