Advertisement

Pediatric Radiology

, Volume 26, Issue 1, pp 1–4 | Cite as

Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis

  • P. Sonigo
  • A. Elmaleh
  • E. Brunelle
  • L. Fermont
  • A. -L. Delezoíde
  • V. Mirlesse
Article

Abstract

Tuberous sclerosis (TS) is an autosomal dominant phakomatosis. A high percentage of spontaneous mutations leads to the diagnosis of new cases in normal families. This diagnosis is suspected at antenatal ultrasound on the discovery of multiple cardiac tumors. Antenatal cerebral ultrasound shows a normal appearance in affected fetuses. Eight fetuses with multiple cardiac tumors were studied with antenatal MRI with, in five cases, an abnormal appearance showing hyperintense subependymal and cortical nodules on TI-weighted images. Among the three remaining patients MRI was non-contributive in one due to movement artefact, one had abnormal postnatal MRI consistent with TS and one had a normal postnatal and clinical examination. We conclude that MRI is a valuable tool in making the diagnosis of TS in fetuses with multiple cardiac tumors.

Keywords

Public Health Nodule Clinical Examination Movement Artefact Tuberous Sclerosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Christophe C, Bartholome J, Blum D, et al (1989) Neonatal tuberous sclerosis: US, CT and MRI diagnosis of brain and cardiac lesions. Pediatr Radiol 6:446Google Scholar
  2. 2.
    Pont MS, Elster AD (1992) Lesions of skin and brain: modern imaging of the neurocutaneous syndromes. AJR 158:1193PubMedGoogle Scholar
  3. 3.
    Seindenwurn DJ, Barkovich AJ (1992) Understanding tuberous sclerosis. Radiology 183:23PubMedGoogle Scholar
  4. 4.
    Mirlesse V, Wener H, Jacquemard F, Perotez C, Daffos F, Sonigo P, Brunelle F (1992) Magnetic resonance imaging in antenatal diagnosis of tuberous sclerosis. Lancet 340:1163Google Scholar

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • P. Sonigo
    • 1
  • A. Elmaleh
    • 1
  • E. Brunelle
    • 1
  • L. Fermont
    • 2
  • A. -L. Delezoíde
    • 3
  • V. Mirlesse
    • 4
  1. 1.Department of Pediatric ImagingHôpital des Enfants-MaladesParisFrance
  2. 2.Pediatric Cardiology DepartmentInstitut de PuéricultureParisFrance
  3. 3.Fetal Pathology DepartmentHôpital des Enfants-MaladesParisFrance
  4. 4.Fetal Medicine UnitInstitut de PuéricultureParisFrance

Personalised recommendations