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Hoffmann's syndrome: a case report.
Deniz Tuncel1, Ali Cetinkaya, Berna Kaya
1Department of Neurology, Faculty of Medicine, University of Kahramanmaras Sutcu Imam, Kahramanmaras, Turkey. tuncedeniz@yahoo.com
Summary
This case study highlights Hoffmann's syndrome, a rare condition causing muscle hypertrophy, in a patient with hypothyroidism. Early diagnosis and L-thyroxine treatment improved symptoms, emphasizing its importance in myopathy differential diagnosis.
Area of Science:
- Neurology
- Endocrinology
- Muscle Physiology
Background:
- Hypothyroidism can manifest with diverse neurological and muscular symptoms.
- Muscle pseudohypertrophy is an uncommon finding in endocrine disorders.
Observation:
- A 24-year-old male presented with cognitive decline, facial/limb swelling, and motor weakness.
- Physical examination revealed hypertrophic calf and shoulder muscles, proximal muscle weakness, and reduced reflexes.
- Laboratory results showed elevated muscle enzymes, lipids, TSH, and decreased thyroid hormones, consistent with myopathy.
Findings:
- The patient was diagnosed with Hoffmann's syndrome secondary to hypothyroidism.
- Electromyography confirmed a myopathic process.
- Treatment with oral L-thyroxine led to significant improvement in mental status and physical function within one month.
Implications:
- This case underscores the importance of considering Hoffmann's syndrome in the differential diagnosis of myopathy with pseudohypertrophy.
- Prompt recognition and management of underlying hypothyroidism are crucial for favorable outcomes.
- Highlights the neuromuscular manifestations of endocrine dysfunction.
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