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http://dx.doi.org/10.4103/0028-3886.246240 | DOI Listing |
BMC Neurol
September 2025
Department of Neurology, University Hospital, RWTH Aachen University, Pauwelsstrasse 30, Aachen, North Rhine-Westphalia, Germany.
Background: Cerebellar pathologies in adults can have a wide range of hereditary, acquired and sporadic-degenerative causes. Due to the frequency in daily hospital, especially intensive care, settings, electrolyte imbalances are an important, yet rare differential diagnosis. The hypomagnesemia-induced cerebellar syndrome (HiCS) constitutes a relevant disease entity with clinical and morphological variability due to a potential progression of symptoms and a promising causal treatment.
View Article and Find Full Text PDFMedicine (Baltimore)
August 2025
Department of Intensive Care Unit, The First Hospital of Jilin University, Changchun, Jilin Province, China.
Rationale: Gitelman syndrome, also known as familial hypokalemia, is primarily characterized by hypokalemic metabolic alkalosis, severe hypomagnesemia, and hypocalciuria.
Patient Concerns: A 26-year-old female patient presented with a 4-month history of amenorrhea, intermittent nausea and vomiting for 1.5 months, and worsening symptoms in the past day.
Front Genet
August 2025
Department of Endocrinology and Metabolism, The Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou, China.
Objective: Pseudohypoparathyroidism type 1B (PHP1B), caused by abnormal methylation of the gene leading to parathyroid hormone (PTH) resistance, lacks Albright hereditary osteodystrophy features and is often misdiagnosed. PHP1B and Gitelman syndrome (GS) share overlapping features, including hypokalemia, hypocalcemia, hypomagnesemia, and metabolic alkalosis, posing challenges in clinical differentiation. This study aimed to explore the clinical characteristics, diagnostic strategies, and therapeutic responses of PHP1B presenting with hypokalemia and to explicitly address the diagnostic challenge of differentiating it from GS.
View Article and Find Full Text PDFJACC Case Rep
August 2025
Department of Medicine, SUNY Upstate Medical University, Syracuse, New York, USA.
Background: Torsades de Pointes (TdP) is caused by QT-prolonging medications, electrolyte disturbances, structural heart disease, congenital long-QT syndromes, female gender, and age. If left untreated, it can lead to cardiac arrest and death.
Case Summary: In this report, we highlight a case of TdP after the transfusion of massive blood products leading to electrolyte disturbances causing QT prolongation.
Case Rep Nephrol Dial
January 2025
Department of Paediatric Nephrology, Nottingham University Hospitals, Nottingham, UK.
Introduction: Dent disease (DD) is characterized by a triad of low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis. However, some cases were confounded by other clinical symptoms and signs, namely, hypokalemia and rickets, which resulted in misleading diagnoses. A diagnosis of DD could be delayed even in high-resource countries due to its variability of phenotypes and rarity, causing a lack of awareness in both medical practitioners and parents.
View Article and Find Full Text PDF