Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.anpedi.2013.12.017 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Rhombencephalosynapsis: A Rare Hindbrain Malformation.
Cureus
July 2024
Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.
Rhombencephalosynapsis (RES) is a rare condition found in the pediatric population. It occurs due to a fundamental failure of vermian differentiation caused by faulty gene expression in the earliest patterning areas of the brain between days 28 and 41 of gestation, resulting in a fused cerebellum. This report aims to discuss cases of this rare hindbrain malformation, identify its features on MRI, diagnose any associated anomalies, classify it based on severity, and study its syndromic associations.
View Article and Find Full Text PDFPartial Rhombencephalosynapsis Presenting in an Adult with Cerebello-Trigeminal-Dermal Dysplasia.
Epilepsy Behav Rep
June 2024
University of Hawai'i at Mānoa, John A. Burns School of Medicine, Honolulu, HI, USA.
Unlabelled: Gomez-Lopez-Hernandez syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia, is a neurocutaneous disorder typically presenting in childhood. GLHS is characterized by rhombencephalosynapsis (RES) and partial alopecia, with or without trigeminal anesthesia. We describe a rare case of GLHS in a paucisymptomatic adult who presented with new-onset seizure-like activity.
View Article and Find Full Text PDF[Rhombencephalosynapsis : a rare cerebellar malformation not to miss].
Rev Med Liege
July 2023
Service de Gynécologie-Obstétrique, CHU Liège, Belgique.
Rhombencephalosynapsis (RS) is a rare cerebellar malformation characterized by the association of partial or total vermis agenesis and fusion of the cerebellar hemispheres. This malformation is often associated with supratentorial cerebral abnormalities and more rarely with extra-cranial abnormalities. The severity of the clinical manifestations and the prognosis of RS depend on the findings of the posterior fossa and the associated anomalies.
View Article and Find Full Text PDFRhombencephalosynapsis 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.
View Article and Find Full Text PDFThe Gomez-Lopez-Hernandez Syndrome: The Contribution of 2 Hispanic Giants of Pediatric Neurology.
J Child Neurol
April 2023
John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA.
The specialty of Pediatric Neurology emerged during the 20th century, a period in which many neurologists played significant roles in revolutionizing this field. Two acclaimed pediatric neurologists of Hispanic origin, Drs Manual Gomez and Arturo Lopez-Hernandez, made substantial contributions to the literature on pediatric neurology. One of their remarkable contributions was their discovery of a new, rare neurocutaneous syndrome with variable phenotype, the Gomez-Lopez-Hernandez syndrome (GLHS).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!