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Hypercalcaemia mimicking Huntington's disease: lessons learned from delayed diagnosis

Hrastelj, James ORCID:, McLauchlan, Duncan, Rosser, Anne Elizabeth ORCID: and Clenaghan, Catherine 2014. Hypercalcaemia mimicking Huntington's disease: lessons learned from delayed diagnosis. The Journal of the Royal College of Physicians of Edinburgh 44 (4) , pp. 286-288. 10.4997/JRCPE.2014.407

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Diagnosis can prove challenging when a patient with a chronic neurological disease presents with acute deterioration. This is especially true in Huntington’s disease, where cognitive impairment is prominent. We present a case of hypercalcaemia causing an acute deterioration in physical and cognitive function in a patient with Huntington’s disease. Similarity in clinical phenotype between hypercalcaemia and Huntington’s disease, as well as failure to appreciate the acute nature of the deterioration resulted in diagnostic delay and prolonged admission. With treatment, the patient improved dramatically. The case highlights key learning points regarding assessment of patients with chronic neurological disease.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Biosciences
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Postgraduate Medical and Dental Education
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords: acute, deterioration, diagnosis, heuristics, Huntington’s disease, hypercalcaemia.
Publisher: Royal College of Physicians of Edinburgh
ISSN: 1478-2715
Funders: Welsh Government, MRC
Last Modified: 19 Jul 2024 01:06

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