Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review

Abstract

BACKGROUND AND PURPOSE: Most patients with tuberous sclerosis complex (TSC) do not receive prenatal diagnosis. Our aim was to describe MR imaging findings to determine the following: 1. Whether normal fetal MR imaging is more common in fetuses imaged at #24 weeks' gestation compared with .24 weeks 2. The frequency of cardiac rhabdomyoma 3. The range of MR imaging phenotypes in fetal tuberous sclerosis complex. MATERIALS AND METHODS:Our institutional fetal MR imaging data base was searched between January 1, 2011 and June 30, 2021, for cases of TSC confirmed either by genetic testing, postnatal imaging, postmortem examination, or composite prenatal imaging findings and family history. A MEDLINE search was performed on June 8, 2021.RESULTS: Forty-seven published cases and 4 of our own cases were identified. Normal findings on fetal MR imaging were seen at a lower gestational age (mean, 24.7 [SD, 4.5 ] weeks) than abnormal findings on MR imaging (mean, 30.0 [SD, 5.3] weeks) (P ¼ .008). Nine of 42 patients with abnormal MR imaging findings were #24 weeks' gestation. Subependymal nodules were present in 26/45 cases (57.8%), and cortical/subcortical lesions, in 17/46 (37.0%). A foramen of Monro nodule was present in 15 cases; in 2/7 cases in which this was unilateral, it was the only abnormal cerebral finding. Cardiac rhabdomyoma was absent in 3/48 cases at the time of fetal MR imaging but was discovered later. Megalencephaly or hemimegalencephaly was observed in 3 cases. CONCLUSIONS:Fetuses with abnormal cranial MR imaging findings were older than those with negative findings. Fetal hemimegalencephaly and megalencephaly should prompt fetal echocardiography. Cardiac rhabdomyoma was not always present at the time of fetal MR imaging. ABBREVIATIONS: CR ¼ cardiac rhabdomyoma; GA ¼ gestational age; GE ¼ ganglionic eminence; TSC ¼ tuberous sclerosis complex; iuMR ¼ fetal MR imaging; US ¼ ultrasound

Congenital Tumors—Magnetic Resonance Imaging Findings with Focus on Rare Tumors

“…Cardiac rhabdomyomas are typically hyperintense on T2WI. In the brain, among the many T2-hypointense subependymal nodules found in children with TSC, they matched the criteria of SEGA in six cases ( Figure 4 c,d), i.e., were located in the foramen of Monro and had more than 10 mm in diameter [ 22 , 23 ].…”

Study on prenatal diagnosis and pregnancy outcome analysis of fetuses with cardiac rhabdomyoma

“…It has been reported [10] that the detection ability of MRI for intracranial lesions during fetal period and after birth is equivalent, which is adequate to accurately evaluate the intracranial condition of fetuses with TSC. Goergen et al [11] reported 42 TSC fetuses with cranial MRI, of which 57.8% with subependymal nodules, and 37% with cortical and subcortical lesions. In our study, 6/9 cases with TSC2 gene mutation (66.7%) had abnormal cranial MRI manifestations.…”

Radiologic screening and surveillance in hereditary cancers

“…8 ), gray matter heterotopia, and subependymal giant cell astrocytomas (SEGAs) which occur in late childhood in 10–15% of patients [58] . A recent literature review established fetal MRI detection rates for subependymal nodules and cortical/subcortical lesions at approximately 60% and 37%, respectively [59] . Prenatal diagnosis of such abnormalities has prognostic significance, as total lesion burden is associated with delays in cognitive and motor development, and with autism spectrum disorder 33640330 [60] .…”

“…Cardiac rhabdomyoma is often the first radiologic finding in TSC, and can be detected on fetal ultrasound between 20 and 30 weeks gestation [64] ; fetal MRI is also highly sensitive, particularly with increasing gestional age, and may reveal cardiac rhabdomyoma in up to 94% of examinations [59] . Spontaneous regression is observed in up to 70% of patients by age 4, but surveillance to resolution is recommended as rare serious complications such as heart failure, valvular dysfunction, and arrhythmia can occur [58] , [64] .…”