First trimester cerebral appearance in the presence of closed spina bifida with myelomeningocele, part of the oeis complex

Our communication presents a prenatally detected case with severe spinal defect detected in the first trimester of pregnancy, accompanied by a large skin-covered myelomeningocele but normal cranio-cerebral structural appearance.These findings suggest that in the first trimester, the extent of the sp...

Full description

Saved in:
Bibliographic Details
Published in:BMJ case reports 2020-10, Vol.13 (10), p.e235395
Main Authors: Ungureanu, Delia Roxana, Zorila, Lucian George, Capitanescu, Razvan Grigoras, Iliescu, Dominic Gabriel
Format: Article
Language:English
Subjects:
Abdomen
Abnormalities, Multiple - diagnosis
Aborted Fetus - pathology
Abortion, Eugenic - methods
Adult
anomaly scan
Anus
body
Brain - diagnostic imaging
Case reports
Defects
Diagnostic Errors - prevention & control
Female
Fetus - diagnostic imaging
Fetuses
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
first trimester
Gestational Age
Humans
Medical diagnosis
Medical prognosis
Meningomyelocele
OEIS (omphalocele-exstrophy-imperforate anus-spinal defects)
Pathology
Pregnancy
Pregnancy Trimester, First
Prenatal Care - methods
prenatal diagnosis
Signs
Skin
Skull - diagnostic imaging
Spina bifida
Spina Bifida Cystica - diagnosis
Spinal cord
Ultrasonic imaging
Ultrasonography, Prenatal - methods
Umbilical cord
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Our communication presents a prenatally detected case with severe spinal defect detected in the first trimester of pregnancy, accompanied by a large skin-covered myelomeningocele but normal cranio-cerebral structural appearance.These findings suggest that in the first trimester, the extent of the spinal defect, the cerebrospinal fluid leakage to a large, but skin-covered, meningocele and fixation of the spinal cord at the lesion are not sufficient to determine downward hindbrain displacement and the development of secondary signs for open spina bifida.Therefore, we suggest a careful evaluation of the fetal cerebral features if a meningocele is detected. The presence of the skin covering the lesion may not be evident in the first trimester, but the absence of intracranial open spina bifida markers may indicate a ‘closed’ spinal defect, which generally associates a good neurological outcome. Also, studies aimed to investigate the accuracy of the intracranial features for open spina bifida detection should consider the possibility of ‘closed’ myelomeningoceles to avoid incorrect correlations.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2020-235395