Acute acquired concomitant esotropia

Results 31 to 40 of about 2,459,279 (115)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 108-121, January 2026.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 205-214, January 2026.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
We report a novel IBA57 variant in a pediatric case, with pathogenicity confirmed through familial segregation analysis, Sanger sequencing, 3D protein modeling, and evolutionary conservation studies. Mitochondrial complex activity assays demonstrated functional impairment. A comprehensive review of literature further elucidates the genotypic‐phenotypic
Jia Xu +5 more
wiley +1 more source

Acute Acquired Comitant Esotropia (AACE) – post COVID-19 home confinement [PDF]

, 2023
AACE is a relatively rare form of strabismus characterized by a sudden onset of concomitant esotropia with diplopia. A 7-year-old boy presented to the Ophthalmology Department, HRPZ II, Kota Bharu with acute onset of diplopia.
Abdul Rahim, Muhammad Afzam Shah +4 more
core

Combined Cryptococcal and Bacterial Meningitis in an Immunocompetent 15‐Year‐Old: A Case Report

Case Reports in Infectious Diseases, Volume 2026, Issue 1, 2026.
Introduction Cryptococcal meningitis is a serious fungal infection of the meninges, typically seen in immunosuppressed patients. The occurrence of cryptococcal meningitis in immunocompetent individuals is very rare. Coinfection with bacterial meningitis is even more unusual. Primary Diagnoses, Interventions, and Outcomes We report the case of a 15‐year‐
Martha Ann Mbonye, Edna Joyce Nagaddya, Priya Gusain +2 more
wiley +1 more source

Decompensated Esophoria as a Benign Cause of Acquired Esotropia. [PDF]

, 2018
PURPOSE: To determine informative clinical and magnetic resonance imaging (MRI) characteristics of patients with symptomatic adult acquired, comitant esotropia due to decompensated esophoria. DESIGN: Retrospective, interventional case series.
Ali, Muhammad +4 more
core +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source

Acute acquired concomitant esotropia: May COVID-19 lockdowns have changed its presentation?

, 2023
Purpose: To evaluate the effects of COVID-19 lockdown in Italy on the features of Acute Acquired Concomitant Esotropia (AACE). Subjects: Patients of the Polyclinic Hospital of Bari diagnosed with AACE between January 2018 and December 2021, subdivided in
Alessio, Giovanni +6 more
core +1 more source

Severe Neurological Presentation in Siblings With COQ5‐Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum

JIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT Coenzyme Q10 (CoQ10) is a coenzyme and antioxidant involved in multiple bioenergetic and biosynthetic processes, particularly within mitochondria. The biosynthesis of CoQ10 is a tightly regulated process that involves multiple enzymes, including the methyltransferase COQ5.
Parith Wongkittichote +6 more
wiley +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source

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