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Hypercalcaemia mimicking Huntington's disease: lessons learned from delayed diagnosis
J Hrastelj1, D McLauchlan, A Rosser
1J Hrastelj, Neurology Research Office, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK. Email hrasteljj@cardiff.ac.uk.
Insights
Hypercalcemia can mimic Huntington's disease symptoms, causing acute neurological decline. Prompt diagnosis and treatment of hypercalcemia are crucial for recovery in these patients.
Area of Science:
- Neurology
- Endocrinology
- Internal Medicine
Background:
- Chronic neurological diseases like Huntington's disease (HD) present diagnostic challenges during acute deterioration.
- Cognitive impairment is a hallmark of HD, complicating differential diagnoses.
- Hypercalcemia can manifest with neurological and physical symptoms, potentially overlapping with HD phenotypes.
Abstract:
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.
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