Hoffmann Syndrome: A rare presentation of hypothyroid myopathy
Year: 2025
Type: article
Study design: Case Report
Abstract: Thyroid dysfunction is typically associated with systemic metabolic disturbances and may also present as thyroid myopathy. Understanding this relationship is crucial for recognizing its clinical manifestations and guiding appropriate management. This report describes the case of a 29-year-old male who presented with unusual swelling in his right leg along with persistent stiffness in his calf muscles. Physical examination revealed striking diffuse pseudo-hypertrophy of the calf muscles, accompanied by a positive Gowers' sign, indicating underlying muscular weakness. Laboratory investigations confirmed classic features of hypothyroidism, including markedly low triiodothyronine (T3) and thyroxine (T4) levels, elevated thyroid-stimulating hormone (TSH), and increased muscle enzyme levels. Remarkably, following the initiation of levothyroxine therapy, the patient exhibited a dramatic and progressive improvement in symptoms. The clinical picture was consistent with Hoffman syndrome, a rare manifestation of hypothyroid myopathy marked by visibly enlarged calf muscles and progressive muscle weakness. This rapid response underscores the importance of early diagnosis and timely treatment, which can lead to a full recovery even in cases with such rare presentations. Overall, this case serves as a reminder that thyroid disorders may occasionally manifest in unexpected ways, and with prompt intervention, patients can achieve significant clinical improvement.
Source: Folia Medica
Institution: Bahria University
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4415654128