Evidence map›Paper›PMID 40163139›Full record

ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2025

Diencephalic-mesencephalic junction dysplasia: case report and literature review.

Tenoch Herrada-Pineda, Ana Karen Perez-Vazquez, Salvador Manrique-Guzman, Francisco R Revilla-Pacheco, Eduardo Torres-Olivas, Maria Jose Wilches-Davalos, Tania Ivette Sanchez-Zacarias, Gilda Garza-Mayen, Jorge Arturo Cardona-Perez

Abstract readCase ReportsReview
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In one paragraph

Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Tenoch Herrada-PinedaNeurosurgery Department, ABC Medical Center, Calle Sur 136 No. 116 Office 2-B Col. Las Américas, 01120, Mexico City, Mexico.
Ana Karen Perez-VazquezNeurosurgery Department, Angeles Lomas Hospital, Vialidad de La Barranca 240, Office 650 and 845 ZC 52763, Huixquilucan, State of Mexico, Mexico.ORCID 0000-0002-8138-678X
Salvador Manrique-GuzmanNeurosurgery Department, ABC Medical Center, Calle Sur 136 No. 116 Office 2-B Col. Las Américas, 01120, Mexico City, Mexico. manriquemd@yahoo.com.ORCID 0000-0001-5792-6363
Francisco R Revilla-PachecoNeurosurgery Department, ABC Medical Center, Calle Sur 136 No. 116 Office 2-B Col. Las Américas, 01120, Mexico City, Mexico.ORCID 0000-0002-1290-6139
Eduardo Torres-OlivasRadiology Department, Magnetic Resonance, Angeles Lomas Hospital, Vialidad de La Barranca 240, Office 650, 52763, Huixquilucan, State of Mexico, Mexico.
Maria Jose Wilches-DavalosNeurosurgery Department, ABC Medical Center, Calle Sur 136 No. 116 Office 2-B Col. Las Américas, 01120, Mexico City, Mexico.ORCID 0009-0001-2268-2423
Tania Ivette Sanchez-ZacariasNeurosurgery Department, ABC Medical Center, Calle Sur 136 No. 116 Office 2-B Col. Las Américas, 01120, Mexico City, Mexico.ORCID 0009-0008-1904-3605
Gilda Garza-MayenGenetic Department, Angeles Lomas Hospital, Vialidad de La Barranca 240, Office 650, 52763, Huixquilucan, State of Mexico, Mexico.ORCID 0000-0002-7895-7166
Jorge Arturo Cardona-PerezPediatrics Department, Angeles Lomas Hospital, Vialidad de La Barranca 240, Office 650, 52763, Huixquilucan, State of Mexico, Mexico.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Diencephalic-mesencephalic junction (DMJ) dysplasia is a rare congenital brain malformation characterized by a poorly defined junction between the diencephalon and mesencephalon, often associated with a butterfly-like contour of the midbrain on magnetic resonance imaging (MR). We report the case of a newborn female diagnosed prenatally with DMJ dysplasia who presented with severe ventriculomegaly, hydrocephalus, and oligohydramnios. Prenatal MRI at 32 weeks revealed a thickened interthalamic adhesion, an elongated midbrain with ventral cleft, aqueductal stenosis, and corpus callosum dysgenesis. Postnatal MRI confirmed these findings, along with the characteristic "butterfly" midbrain morphology. Genetic analysis revealed a pathogenic 11.9 Mb terminal deletion in the 6q25.3q27 region, encompassing candidate neurodevelopmental genes, such as DLL1, and a 3.8 Mb partial duplication in 22q13.31q13.33, of unknown significance. Parental genetic testing revealed a maternal balanced reciprocal translocation between chromosomes 6 and 22 (asymptomatic carrier), which was inherited in an unbalanced form by the proband. A ventriculoperitoneal shunt was placed within the first 48 h of life to manage hydrocephalus, with subsequent adjustments and revisions as needed. This case highlights the importance of advanced prenatal imaging and genetic testing in the diagnosis of complex brain malformations as well as the need for multidisciplinary management of rare congenital anomalies. Further research is essential to elucidate the underlying genetic mechanisms and improve the outcomes in patients with DMJ dysplasia.

Indexed as

DiencephalonMesencephalonFemaleHumansHydrocephalusInfant, NewbornMagnetic Resonance ImagingPregnancyDiencephalic-mesencephalic junction dysplasiaMicroarrayNervous system malformationsUnbalanced translocationVentriculoperitoneal shunt

Identifiers

PMID40163139

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.