Results 11 to 20 of about 2,210 (186)

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

Clin Case Rep
MRI brain revealing features consistent with central diabetes insipidus (Figure A), pontine atrophy (Figure B), and bilateral optic nerve atrophy (Figure C) in a young, non‐autoimmune diabetic patient: imaging clue to Wolfram syndrome. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes ...
Ingawale S, Shinde I, Rachakonda ST, Pandey A, Shah A.   +4 more
europepmc   +3 more sources

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

JIMD Rep
ABSTRACT 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. We report a case of a newborn female born to a G10P5 mother, with abnormal fetal movements and polyhydramnios in ...
Alammary D, Low T, Srinivasan G, Dery MC, Almutadares M, Marin S, Rafay MF, Rozovsky K, Frosk P.   +8 more
europepmc   +3 more sources

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

Journal of Medical Case Reports, 2010
Abstract 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. Case presentation A 25-year-old man presented with subacute liver failure.
O'Beirne James, Shaw Steve, Burroughs Andy K, Parsons Anthony K, Shankar Hari Manu, Agarwal Banwari   +5 more
openaire   +4 more sources

Wolfram syndrome: A case report [PDF]

Chronic Diseases Journal, 2014
Wolfram syndrome (WFS) is a rare disease inherited as an autosomal dominant trait. Type I diabetes mellitus and optic atrophy are the main symptoms of the disease.
Eskandarifar, Alireza, Gharib, Alireza, Hosseiny, Mozhgan, Janany, Somayeh, Sedaghat, Banafsheh   +4 more
core   +4 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. ARDS is defined as a diffuse and inflammatory injury of the lungs; classifying this as severe when the ratio of arterial oxygen tension to a fraction of inspired ...
Bruno Samaniego-Segovia, Lilia Rizo-Topete, Montserrat de la Garza-Gomez, Cesar Alejandro Rodriguez-Salinas, Salim Martínez-Cadena, Alicia López-Romo, Rene Gomez-Gutierrez, Uriel Chavarría-Martínez, Sergio Sánchez-Salazar   +8 more
openaire   +4 more sources

A Case of Wolfram Syndrome [PDF]

Journal of Ophthalmic & Vision Research, 2010
Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both
Ashtari, Fereshteh, Naderian, Gholamali, Nouri-Mahdavi, Kia, Sajjadi, Valleh   +3 more
core   +4 more sources

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

Diagnostics (Basel)
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.
Esteban-Bueno G, Serrano Rodríguez ML.
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 Pediatr
A 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

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

Case Report: Pituitary metastasis as a presenting manifestation of silent gastric cardia adenocarcinoma

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, Jessica Rossi, Jessica Rossi, Francesco Cavallieri, Manuela Napoli, Rosario Pascarella, Romana Rizzi, Marco Russo, Gaetano Salomone, Antonio Romano, Corrado Iaccarino, Elisabetta Froio, Silvia Serra, Salvatore Cozzi, Lucia Giaccherini, Franco Valzania, Anna Pisanello   +16 more
doaj   +1 more source