Category: Wolfram syndrome

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 […]

Wolfram-like Syndrome: Shedding Light on a Variant of Wolfram Syndrome

AACE Endocrinol Diabetes. 2025 Jul 3;12(3):143-145. doi: 10.1016/j.aed.2025.06.008. eCollection 2025 Sep-Oct. ABSTRACT BACKGROUND: Wolfram-like syndrome is an autosomal dominant disorder related to classical autosomal recessive Wolfram syndrome. It is characterized by diabetes mellitus, optic atrophy, and sensorineural hearing loss, but typically presents with milder or incomplete features. These atypical and late-onset forms pose a diagnostic […]

Circadian Rhythm and Psychiatric Features in Wolfram Syndrome: Toward Chrono Diagnosis and Chronotherapy

Diagnostics (Basel). 2025 Sep 15;15(18):2338. doi: 10.3390/diagnostics15182338. ABSTRACT Background/Objectives: Wolfram syndrome is a rare neurodegenerative disorder primarily known for its multisystemic manifestations. Although classically associated with diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, emerging evidence suggests a consistent pattern of executive dysfunction in many affected individuals. Methods: Based on findings from a scoping review […]

Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder

Front Ophthalmol (Lausanne). 2025 Sep 9;5:1612964. doi: 10.3389/fopht.2025.1612964. eCollection 2025. ABSTRACT WFS1 spectrum disorder is a rare condition, characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD). A 2-year-old female patient with a history of sensorineural hearing loss presented with rapid, sequential cataract development. Diabetes mellitus was not manifested at the time but […]

Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects

Front Med (Lausanne). 2025 Sep 8;12:1639884. doi: 10.3389/fmed.2025.1639884. eCollection 2025. ABSTRACT Wolfram syndrome type 1 (WS1) is a rare genetic disorder characterized primarily by non-autoimmune diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. It may include other endocrine, urological, psychiatric, and neurological disorders. The syndrome arises from mutations in the WFS1 gene, which encodes the […]

Clinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov

J Multidiscip Healthc. 2025 Sep 16;18:5865-5874. doi: 10.2147/JMDH.S539699. eCollection 2025. ABSTRACT BACKGROUND: Childhood blindness is a significant global health concern, consistently identified in existing research as stemming from rare genetic and congenital disorders. With the technological advances of the 21st century which have positively impacted many areas of human life, healthcare included, recent advances in […]