Results 1 to 10 of about 1,226 (139)

Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease—A Case Report [PDF]

Clinical Case Reports
Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD).
Sushrut Ingawale, Ishaan Shinde, Sai Teja Rachakonda, Ashmita Pandey, Ayushi Shah   +4 more
doaj   +3 more sources

Identification of Additional Cases of Severe Neonatal GABA‐Transaminase Deficiency [PDF]

JIMD Reports
GABA‐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, Tisiana Low, Ganesh Srinivasan, Marie‐Claude Dery, Mahmoud Almutadares, Samantha Marin, Mubeen F. Rafay, Katya Rozovsky, Patrick Frosk   +8 more
doaj   +3 more sources

Pregnancy and Peripartum Multidisciplinary Management in Wolfram Syndrome Type 1: A Case Report [PDF]

Diagnostics
Background/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, María Luz Serrano Rodríguez   +1 more
doaj   +2 more sources

Neurogenic diabetes insipidus presenting in a patient with subacute liver failure: a case report [PDF]

Journal of Medical Case Reports, 2010
Introduction To the best of our knowledge, this is the first report in the literature of development of neurogenic diabetes insipidus in a patient with subacute liver failure.
O'Beirne James, Shaw Steve, Burroughs Andy K, Parsons Anthony K, Shankar Hari Manu, Agarwal Banwari   +5 more
doaj   +3 more sources

Neurogenic diabetes insipidus in a critical patient with COVID-19 pneumonia in treatment with extracorporeal membrane oxygenation: a case report

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, Rizo-Topete Lilia, Garza-Gomez Montserrat de la, Rodriguez-Salinas Cesar Alejandro, Martínez-Cadena Salim, López-Romo Alicia, Gomez-Gutierrez Rene, Chavarría-Martínez Uriel, Sánchez-Salazar Sergio   +8 more
doaj   +3 more sources

A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man [PDF]

AACE Clinical Case Reports, 2021
Diabetes insipidus (DI) can be classified into 2 types: central/neurogenic DI and nephrogenic DI. Most cases of central DI occur after brain surgery, trauma, tumor, or infection. Here we report a rare case of familial central DI due to a heterozygous AVP gene mutation.A case of familial neurogenic DI has been described with thorough clinical ...
Mohamed K M Shakir, Thanh D Hoang
exaly   +4 more sources

Buccally Administered Intranasal Desmopressin Acetate for the Treatment of Neurogenic Diabetes Insipidus in Infancy [PDF]

Journal of Clinical Endocrinology and Metabolism, 2016
The treatment of neurogenic diabetes insipidus (DI) in infancy is challenging and complicated by fluid overload and dehydration. Therapy with subcutaneous (SC), intranasal (IN), or oral tablet desmopressin acetate (1-desamino-8-D-arginine vasopressin [DDAVP]) remains difficult to titrate in infants.Assess the efficacy and safety of buccally ...
Philippe F Backeljauw, Iris Gutmark-Little, Backeljauw Philippe   +2 more
exaly   +3 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]

F1000Research
Background Erdheim-Chester disease (ECD) is an extremely rare histiocytic neoplasm with a highly variable and often unpredictable clinical course and prognosis.
Hajer Boudriga, Omar Ben Elkilani, Raja Sfar, Anis Mzabi, Abir Ezzine, Fatma Ben Fredj, Jihed Anoun, Kaouthar Chatti, Imen Ben Hassine   +8 more
doaj   +2 more sources

Hypokalemic Periodic Paralysis Developed in a Patient with Neurogenic Diabetes Insipidus [PDF]

Journal of the Korean Neurological Association, 2021
Hypokalemic periodic paralysis one of the channelopathy disorders with low serum potassium level, clinically presenting as acute onset extremity weakness. In most cases, the cause of the hypokalemia is familial, but rarely hypokalemic periodic paralysis occurs secondary to other diseases including endocrinopathies, renal disorders, gastrointestinal ...
Jihyeon Hwang, Joo Hye Sung, Ye Eun Kim, Keonyeup Kim, Seong-Hwan Kim, Young Bin Park, Seol-Hee Baek   +6 more
openaire   +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, Inseong Hwang, Sung-Ha Kim, Sook Min Hwang, Tae-Jung Sung, Hye Jin Lee   +5 more
doaj   +1 more source