A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal
Cureus. 2025 Oct 25;17(10):e95410. doi: 10.7759/cureus.95410. eCollection 2025 Oct. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes mellitus, optic atrophy, and progressive neurodegeneration, often summarized by the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We report a 27-year-old male with a history of diabetes mellitus, progressive visual loss […]
CISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons
Acta Neuropathol Commun. 2025 Nov 26;13(1):242. doi: 10.1186/s40478-025-02132-7. ABSTRACT Loss of Cisd2, an iron-sulfur cluster transfer protein, results in type 2 Wolfram syndrome (WS2), a disorder associated with severe impacts on pancreatic β cell and neuronal functions. Cisd2 has been implicated in regulating intracellular Ca2+ signaling. However, the molecular basis and cellular consequences remain poorly […]
Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity
J Pediatr Endocrinol Metab. 2025 Nov 24. doi: 10.1515/jpem-2025-0316. Online ahead of print. ABSTRACT OBJECTIVES: Monogenic diabetes (MD) is a group of diabetes subtypes caused by defects in single genes. We report phenotypes and genotypes of MD among Sudanese children. METHODS: Referred patients (from birth to 18 years of age) with diabetes and a clinical […]
Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review
Front Neurol. 2025 Oct 31;16:1623314. doi: 10.3389/fneur.2025.1623314. eCollection 2025. ABSTRACT BACKGROUND AND OBJECTIVES: Wolfram syndrome (WFS) is a genetic disorder mainly caused by pathogenic variants in the WFS1 gene. It is characterized clinically by optic atrophy (OA), diabetes mellitus (DM), sensorineural hearing loss (SNHL), diabetes insipidus (DI), and variable neurological/psychiatric symptoms. WFS typically manifests before […]
Wolfram syndrome: A perspective on gene editing as a therapeutic strategy
Neural Regen Res. 2025 Oct 30. doi: 10.4103/NRR.NRR-D-25-00835. Online ahead of print. NO ABSTRACT PMID:41169224 | DOI:10.4103/NRR.NRR-D-25-00835
Neutropenia Through Enhanced Neutrophil Apoptosis and Secondary Necrosis in Wolfram Syndrome 1
Turk J Haematol. 2025 Oct 30. doi: 10.4274/tjh.galenos.2025.2025.0379. Online ahead of print. NO ABSTRACT PMID:41163307 | DOI:10.4274/tjh.galenos.2025.2025.0379
Respiratory Failure Due to Strongyloides stercoralis Hyperinfection: A Case Report of a Neglected Tropical Disease
Cureus. 2025 Sep 24;17(9):e93162. doi: 10.7759/cureus.93162. eCollection 2025 Sep. ABSTRACT We report the case of a 25-year-old male patient admitted to the intensive care unit due to respiratory failure. The patient presented to the Emergency Department with shortness of breath, productive cough, and fever and was initially treated empirically for suspected community-acquired pneumonia of bacterial […]
Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Commun Med (Lond). 2025 Oct 24;5(1):438. doi: 10.1038/s43856-025-01031-1. ABSTRACT BACKGROUND: To improve the precision of molecular diagnosis by means of a comprehensive bidirectional phenotypic and genotypic reanalysis in cases of unresolved monogenic diabetes previously investigated using a targeted next-generation sequencing (tNGS) panel. METHODS: Molecular and clinical data from 128 unresolved cases referred between 2011 and […]
Transitioning Adolescents with Rare Forms of Diabetes to Adult Care: Challenges and Perspectives
Endocr Connect. 2025 Oct 24:EC-25-0451. doi: 10.1530/EC-25-0451. Online ahead of print. ABSTRACT BACKGROUND: Adolescents and young adults (AYA) with rare forms of diabetes-including Wolfram Syndrome (WS), Alström Syndrome (AS), Bardet-Biedl Syndrome (BBS), and Maturity-Onset Diabetes of the Young (MODY)-face unique challenges during transition to adult care. These challenges are intensified by multisystem endocrine involvement, neurocognitive […]
Diabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach
Pediatr Diabetes. 2025 Oct 2;2025:8692152. doi: 10.1155/pedi/8692152. eCollection 2025. ABSTRACT Objective: Wolfram Syndrome Type 1 (WS1) is a rare neurodegenerative disorder characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and deafness (D) due to biallelic mutations in the WFS1 gene. As the cardinal symptoms of DI, polyuria and polydipsia, overlap with those […]