Clinical spectrum of orbital and ocular abnormalities on fetal MRI

Jacobs, Erica B.; Whitehead, Matthew T.

doi:10.1007/s00247-022-05439-y

Cited by 1 publication

(2 citation statements)

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“…Globe and orbital findings in fetuses with DMJD were found in 100% of a cohort of 16 DMJD cases; and hypertelorism was the most common finding with an interocular distance measuring 2 standard deviations above the mean for gestational age. Other less common findings were persistent fetal vasculature, retinopathy, glaucoma, microphthalmia, and anophthalmia [17]. So far, no abnormal imaging involving the internal ear has been reported in association with the DMJD pattern.…”

Section: Discussionmentioning

confidence: 99%

“…Fox head box A2 (FOXA2) mutations at 20p11.2 chromosome were associated with midline development defects such as diencephalosynapsis and mesencephalonsynapsis, and also shares imaging similarities with DMJD pattern. Other imaging features comprises obstructive hydrocephalus, corpus callosum agenesis, absent anterior pituitary and ectopic posterior pituitary, and cervicomedullary kinking [16][17][18].…”

Section: Issn 2563-9218mentioning

confidence: 99%

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Diencephalic-mesencephalic Junction Dysplasia: A Case Report and Overview of What is Known so far

Rafful,

Kraus

2023

Int J Biomed Clin Anal

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Background: Diencephalic-mesencephalic junction dysplasia (DMJD) is a rare and recently newly described forebrain-midbrain malformation involving the upper aspect of the brainstem and resulting in an abnormal regionalization of the diencephalon and mesencephalon level. The fingerprint of DMJD is the pathognomonic butterfly-like appearance of the midbrain seen on the axial plane of brain magnetic resonance imaging (MRI). Initially, only two types of diencephalon-mesencephalon continuity were defined: type A describes the continuity of the hypothalamus with the mesencephalon, and type B a parenchymal band between the thalamus and the superior surface of the midbrain. However, DMJD classification continues to expand, and recently, type C was described as showing a complete continuity of the thalamus and midbrain. In this paper, we refer to mesencephalon and midbrain as the anatomical marker of the topmost part of the brainstem, and those terms are used interchangeably in the text. Methodology: PubMed database search for the exact words “diencephalic-mesencephalic junction dysplasia” and “DMJD” yielded 12 relevant publications. A showcase of an original rare type C DMJD was performed. Objective: The purpose of this article is to present a brief comprehensive illustration /elucidation of the physiopathology of neural tube regionalization to facilitate the understanding of DMJD malformation; to present an updated overview of recent publications involving imaging findings, genetics, and clinical concerns; and to show an original fetal case of type C DJMD. The aim is to increase awareness of DMJD and strengthen clinical suspicion, especially since early diagnosis is primarily based on imaging.

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Section: Discussionmentioning

confidence: 99%

Section: Issn 2563-9218mentioning

confidence: 99%