A case of anterior fibroneural stalk, cervicothoracic junction anomaly, enteric duplication cyst, and diaphragmatic hernia: validation of a recently reported notochordal development disorder with pre- and postnatal multimodality imaging

Eleanor A Nicklason; Jan E Dickinson; Rahul Lakshmanan

doi:10.1007/s00247-024-05956-y

A case of anterior fibroneural stalk, cervicothoracic junction anomaly, enteric duplication cyst, and diaphragmatic hernia: validation of a recently reported notochordal development disorder with pre- and postnatal multimodality imaging

Pediatr Radiol. 2024 Sep;54(10):1751-1757. doi: 10.1007/s00247-024-05956-y. Epub 2024 Jun 24.

Authors

Eleanor A Nicklason^{1

2}, Jan E Dickinson^{3

4}, Rahul Lakshmanan^{5

6}

Affiliations

¹ Department of Medical Imaging, Royal Hobart Hospital, 48 Liverpool Street, Hobart, TAS, 7000, Australia. eleanor.nicklason@ths.tas.gov.au.
² Department of Medical Imaging, Perth Children's Hospital, Perth, Australia. eleanor.nicklason@ths.tas.gov.au.
³ Division of Obstetrics and Gynaecology, Faculty of Health and Medical Science, The University of Western Australia, Perth, Australia.
⁴ Maternal Fetal Medicine Service, King Edward Memorial Hospital, Perth, Australia.
⁵ Department of Medical Imaging, Perth Children's Hospital, Perth, Australia.
⁶ Centre for Neuromuscular and Neurological Disorders (Perron Institute), University of Western Australia Medical School, Perth, Australia.

PMID: 38913188
DOI: 10.1007/s00247-024-05956-y

Abstract

The syndrome of anterior fibroneural stalk, vertebral anomaly, enteric duplication cyst, and diaphragmatic hernia is a manifestation of abnormal notochordal development due to persistence of the neurenteric canal beyond early fetal gestational age. Our description of the third such published case to date supports this novel tetralogy and further illustrates the role of both pre- and postnatal imaging in achieving the diagnosis.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple* / diagnostic imaging
Cervical Vertebrae / abnormalities
Cervical Vertebrae / diagnostic imaging
Cysts / diagnostic imaging
Diagnosis, Differential
Female
Hernia, Diaphragmatic / diagnostic imaging
Hernias, Diaphragmatic, Congenital* / diagnostic imaging
Humans
Infant, Newborn
Magnetic Resonance Imaging / methods
Male
Multimodal Imaging / methods
Neural Tube Defects / diagnostic imaging
Notochord* / abnormalities
Notochord* / diagnostic imaging
Pregnancy
Thoracic Vertebrae / abnormalities
Thoracic Vertebrae / diagnostic imaging
Ultrasonography, Prenatal / methods