Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease—A Case Report [PDF]
Clinical Case ReportsWolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD).
Sushrut Ingawale +4 more
doaj +3 more sources
Identification of Additional Cases of Severe Neonatal GABA‐Transaminase Deficiency [PDF]
JIMD ReportsGABA‐transaminase (GABA‐T) deficiency is a rare disorder of GABA metabolism characterized by neonatal encephalopathy, epilepsy, hypotonia and intellectual disability. It is caused by biallelic pathogenic variants in the ABAT gene.
Deima Alammary +8 more
doaj +3 more sources
Pregnancy and Peripartum Multidisciplinary Management in Wolfram Syndrome Type 1: A Case Report [PDF]
DiagnosticsBackground/Objectives: Wolfram syndrome type 1 (WS1) is a rare, progressive, multisystem neurodegenerative disorder characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss.
Gema Esteban-Bueno +1 more
doaj +2 more sources
Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective. [PDF]
AndrologyAbstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Rohayem J +6 more
europepmc +2 more sources
Failure of GLP-1 Agonist Therapy to Improve Weight in a 3-Year-Old Patient With Tumor-Related Obesity. [PDF]
Case Rep PediatrA 19‐month‐old female patient presented due to rapid weight gain starting at age 5 months. Due to continued abnormal weight gain after 1 year of age, an MRI of the brain was performed, revealing a 5.5 × 2.6 × 2.3 cm mass centered within the medulla oblongata with extension to the C3 vertebral body. Biopsy confirmed a diagnosis of ganglioglioma. A trial
Petlansky R, Graber E.
europepmc +2 more sources
Case Report: When an unknown fever unmasks Erdheim-Chester disease: a case showing the use of multimodality imaging and the successful interferon alpha therapy. [version 2; peer review: 2 approved] [PDF]
F1000ResearchBackground Erdheim-Chester disease (ECD) is an extremely rare histiocytic neoplasm with a highly variable and often unpredictable clinical course and prognosis.
Hajer Boudriga +8 more
doaj +2 more sources
The Journal of ExtraCorporeal Technology, 2023 The following case report analyses a patient with extracorporeal membrane oxygenation (ECMO), who suffered from a severe Acute Respiratory Distress Syndrome (ARDS) due to COVID-19 pneumonia.
Samaniego-Segovia Bruno +8 more
doaj +1 more source
Central Diabetes Insipidus in an Extremely-Low-Birth-Weight Preterm Infant with Suspected Ectopic Posterior Lobe of the Pituitary Gland [PDF]
Neonatal Medicine, 2020 Central diabetes insipidus (CDI) is extremely rare in neonates, especially in extremely-low-birth-weight infants, and most cases are secondary to conditions, such as ischemic or hemorrhagic brain damage.
Yung Zu Park +5 more
doaj +1 more source
Frontiers in Oncology, 2023 IntroductionPituitary metastases are very rare in cancer patients and often originate from lung or breast tumors. They usually occur in patients with known metastatic disease, but rarely may be the first presentation of the primary tumor.MethodsWe ...
Andrea Ghezzi +16 more
doaj +1 more source
Frontiers in Endocrinology, 2022 ObjectiveTo describe the urinary tract characteristics of diabetes insipidus (DI) patients with upper urinary tract dilatation (UUTD) using the video-urodynamic recordings (VUDS), UUTD and all urinary tract dysfunction (AUTD) systems, and to summarize ...
Xuesheng Wang +10 more
doaj +1 more source