Diencephalic-mesencephalic Junction Dysplasia: A Case Report and Overview of What is Known so far
Journal Title: International Journal of Biomedical and Clinical Analysis - Year 2023, Vol 3, Issue 1
Abstract
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.
Authors and Affiliations
Patricia Piazza Rafful, Mareen Sarah Kraus
Laboratory Medicine Workforce Shortage: Informed Public and Skilled High School Students can Fill the Gap
We have known for years that laboratory medicine would not have enough employees at all levels to effectively support the growing needs of medical doctors. According to the US Bureau of Labor Statistics prediction “MLS/M...
Mortality Prediction of ICU Cardiovascular Patient: Time-Series Analysis
It is estimated that millions of deaths occur annually, which can be prevented when early diagnosis and correct treatment are provided in the intensive care unit (ICU). In addition to monitoring and treating patients, th...
Modern Educational Technologies in Medical Education: A Dream that is a Reality
There is an increasing demand for accountability in higher education and, at the same time, an increasing focus on improved teaching and learning (1). Meanwhile, human society has entered the era of information explosion...
Approaches Towards the Detection of Sepsis: A Review
Our understanding of sepsis and its mechanisms have never been more important than they are today. In recent years we have seen sepsis manifest from bacterial infection to a broader range of pathogens, each with its uniq...
A Heuristic Point of View on the Breathing in the Corona Virus Environment: The "Naive Theory"
It is an attempt to analyze the breathing (respiration) of an already ill by the Corona Virus (CV) disease person in simple physical and equational terms, and to suggest (in these terms) a forcing of the CV Molecules (CV...