Results 81 to 90 of about 23,088 (236)

Glucose Transporter Deficiency Syndrome Type 1 (Glut1‐DS): New Insights From a Brazilian Cohort of Patients

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Glucose transporter deficiency syndrome type 1 (Glut1‐DS) is a rare neurometabolic disorder caused by pathogenic variants in SLC2A1, characterized by epilepsy, neurodevelopmental delay, movement disorders, dysarthria, intellectual disability, and postnatal microcephaly.
Lívia Maria Ferreira Sobrinho, Juliana Cristine Fontana, Claudia F. Lorea, Helio van der Linden Júnior, Andréa C. S. Leite, Rayana Elias Maia, Lilia Farret, Carolina F. Moura de Souza, Soraia Poloni, Fabiano O. Poswar, Ida Vanessa D. Schwartz, Fernanda Sperb‐Ludwig   +11 more
wiley   +1 more source

Bilateral Carotid-Cavernous Fistula Following Traumatic Fall: A Case Report

Journal of the Belgian Society of Radiology
Carotid-cavernous fistulas (CCFs) are abnormal connections between the carotid arteries and the cavernous sinus, posing significant neuro-ophthalmologic risks.
Fatim Camara, Chiara Mabiglia, Thomas Bonnet   +2 more
doaj   +1 more source

Tolosa-hunt Syndrome Following COVID-19 Pandemic: A Case Series Describing the Clinical Presentations and Response to SteroidsTolosa-hunt Syndrome Following COVID-19 Pandemic: A Case Series Describing the Clinical Presentations and Response to Steroids [PDF]

Journal of Clinical and Diagnostic Research
Tolosa-Hunt Syndrome is a rare condition characterised by unilateral periorbital headache with ophthalmoplegia caused by inflammation of the superior orbital fissure or cavernous sinus.
Nimmy Jimmicha, Surya Dinesh
doaj   +1 more source

Acute and Chronic Pancreatitis in Mitochondrial Disease: A Systematic Review

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Mitochondrial disease is a common inherited multisystem neurometabolic disorder. Pancreatic dysfunction is a recognised manifestation, most frequently presenting as mitochondrial diabetes. Although pancreatitis cases have been reported in association with mitochondrial disease, acute and chronic pancreatitis in this context remain poorly ...
Olivia Hahl, Mika H. Martikainen
wiley   +1 more source

Ophthalmoplegia in Polymyositis

, 1972
Ophthalmoplegia; Bilateral ptosisN/AN/AN/AJoint pain; Muscle weaknessN/AN/
J. S. Glaser, MD
core  

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2250-2258, September 2026.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Internuclear Ophthalmoplegia in Pediatric Patients

, 2018
Internuclear ophthalmoplegia is a localization sign of the lesion of the medial longitudinal fasciculus (LMF). Damage of the LMF causes deficit of ipsilateral adduction with contralateral abduction nystagmus.
Emely Karam
core  

Minor head trauma and isolated unilateral internuclear ophthalmoplegia [PDF]

, 2006
Internuclear ophthalmoplegia is a syndrome that develops due to a lesion of the medial longitudinal fasciculus. This lesion is mostly caused by multiple sclerosis (usually bilaterally), and only rarely by head injury.
Vidović, Tomislav, Papa, Jurica, Cerovski, Jasenka, Bojić, Lovro, Cerovski, Branimir   +4 more
core   +1 more source

Nine Syndrome in Acute Pontine Ischemic Stroke: A Rare Case Report and Literature Review [PDF]

Caspian Journal of Neurological Sciences
Background: Nine syndrome is a rare condition with a manifestation of one and a half syndrome (OAHS) with facial nerve damage and hemiparesis. We aimed to present the first published nine syndrome case from Indonesia with a comprehensive physical ...
Robert Shen, Steffi Wulansari, Linda Suryakusuma   +2 more
doaj