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Rhombencephalosynapsis With Obstructive Hydrocephalus: A Rare Presentation of the Cerebellar Anomaly on MRI Findings

Rhombencephalosynapsis is an exceptionally uncommon cerebellar anomaly characterized by the absence or underdevelopment of vermal axons, the presence of dentate nuclei, and the fusion of cerebral hemispheres. Depending on the presence or absence of additional supratentorial anomalies, the prognosis...

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Autores principales: Khandelwal, Shreya, Dhande, Rajasbala, Gowda, Harshith, Mishra, Gaurav, Khandelwal, Ramesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10320735/
https://www.ncbi.nlm.nih.gov/pubmed/37416012
http://dx.doi.org/10.7759/cureus.39969
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author Khandelwal, Shreya
Dhande, Rajasbala
Gowda, Harshith
Mishra, Gaurav
Khandelwal, Ramesh
author_facet Khandelwal, Shreya
Dhande, Rajasbala
Gowda, Harshith
Mishra, Gaurav
Khandelwal, Ramesh
author_sort Khandelwal, Shreya
collection PubMed
description Rhombencephalosynapsis is an exceptionally uncommon cerebellar anomaly characterized by the absence or underdevelopment of vermal axons, the presence of dentate nuclei, and the fusion of cerebral hemispheres. Depending on the presence or absence of additional supratentorial anomalies, the prognosis and clinical appearance can vary widely. Here, we present the case of a consanguineous-parent newborn boy, aged four days, who was diagnosed with the use of an MRI. The child had spastic diplegia, bone anomalies, and facial dysmorphism. Slight hydrocephalus, hypogenesis of the corpus callosum, and agenesis of the septum pellucidum were some of the additional supratentorial abnormalities. This study details the clinical and MRI findings, as well as a possible etiology, of this illness.
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spelling pubmed-103207352023-07-06 Rhombencephalosynapsis With Obstructive Hydrocephalus: A Rare Presentation of the Cerebellar Anomaly on MRI Findings Khandelwal, Shreya Dhande, Rajasbala Gowda, Harshith Mishra, Gaurav Khandelwal, Ramesh Cureus Neurology Rhombencephalosynapsis is an exceptionally uncommon cerebellar anomaly characterized by the absence or underdevelopment of vermal axons, the presence of dentate nuclei, and the fusion of cerebral hemispheres. Depending on the presence or absence of additional supratentorial anomalies, the prognosis and clinical appearance can vary widely. Here, we present the case of a consanguineous-parent newborn boy, aged four days, who was diagnosed with the use of an MRI. The child had spastic diplegia, bone anomalies, and facial dysmorphism. Slight hydrocephalus, hypogenesis of the corpus callosum, and agenesis of the septum pellucidum were some of the additional supratentorial abnormalities. This study details the clinical and MRI findings, as well as a possible etiology, of this illness. Cureus 2023-06-05 /pmc/articles/PMC10320735/ /pubmed/37416012 http://dx.doi.org/10.7759/cureus.39969 Text en Copyright © 2023, Khandelwal et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Neurology
Khandelwal, Shreya
Dhande, Rajasbala
Gowda, Harshith
Mishra, Gaurav
Khandelwal, Ramesh
Rhombencephalosynapsis With Obstructive Hydrocephalus: A Rare Presentation of the Cerebellar Anomaly on MRI Findings
title Rhombencephalosynapsis With Obstructive Hydrocephalus: A Rare Presentation of the Cerebellar Anomaly on MRI Findings
title_full Rhombencephalosynapsis With Obstructive Hydrocephalus: A Rare Presentation of the Cerebellar Anomaly on MRI Findings
title_fullStr Rhombencephalosynapsis With Obstructive Hydrocephalus: A Rare Presentation of the Cerebellar Anomaly on MRI Findings
title_full_unstemmed Rhombencephalosynapsis With Obstructive Hydrocephalus: A Rare Presentation of the Cerebellar Anomaly on MRI Findings
title_short Rhombencephalosynapsis With Obstructive Hydrocephalus: A Rare Presentation of the Cerebellar Anomaly on MRI Findings
title_sort rhombencephalosynapsis with obstructive hydrocephalus: a rare presentation of the cerebellar anomaly on mri findings
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10320735/
https://www.ncbi.nlm.nih.gov/pubmed/37416012
http://dx.doi.org/10.7759/cureus.39969
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