Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.

ABSTRACT:

Background and purpose

Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book Pediatric Neuroimaging from 2005 as an anomalous mass protruding from the posterior medullary surface. We describe the neuroimaging, clinical, postmortem, and genetic findings defining this unique malformation.

Materials and methods

This is a multicenter, international, retrospective study. We assessed the patients' medical records, prenatal ultrasounds, MR images, genetic findings, and postmortem results. We reviewed the medical literature for all studies depicting medullary malformations and evaluated cases in which a dorsal medullary protuberance was described.

Results

We collected 13 patients: 3 fetuses and 10

SUBMITTER: Gafner M 

PROVIDER: S-EPMC10187821 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature