Hoffmann’s syndrome in the differential work-up of myopathic complaints: a case report
Abstract Background Hoffmann’s syndrome is a rare form of hypothyroid myopathy in adults, which is mainly characterized by muscular weakness and muscular pseudohypertrophy. Case presentation We report about a 61-year-old Western European man with myalgia, myxedema and pseudohypertrophy of the calf m...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-10-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-023-04184-6 |
| _version_ | 1827770544706027520 |
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| author | Sabine Winter Bianka Heiling Niklas Eckardt Christof Kloos Hubertus Axer |
| author_facet | Sabine Winter Bianka Heiling Niklas Eckardt Christof Kloos Hubertus Axer |
| author_sort | Sabine Winter |
| collection | DOAJ |
| description | Abstract Background Hoffmann’s syndrome is a rare form of hypothyroid myopathy in adults, which is mainly characterized by muscular weakness and muscular pseudohypertrophy. Case presentation We report about a 61-year-old Western European man with myalgia, myxedema and pseudohypertrophy of the calf muscles. Laboratory tests revealed significantly elevated thyroid stimulating hormone (TSH) and creatine kinase (CK). Muscle MRI showed muscular hypertrophy of the lower limbs, but no signs of myositis or myopathy (no gadolinium enhancement, no edema, no fatty degeneration). In addition, electromyography (EMG) detected spontaneous activity. After the beginning of thyroxin-therapy it took six months until the muscle weakness improved and the myalgia regressed. Conclusions Here, we focus on diagnostic routines and typical findings to differentiate Hoffmann’s syndrome from other myopathies. Clinical hallmarks of Hoffmann’s syndrome are pseudohypertrophy and weakness of the calf muscles in combination with elevated CK and elevated TSH. EMG is well suited to detect the involvement of the muscles and muscle MRI helps to differentiate it from other myopathies. Hoffmann’s syndrome is a rare myopathy due to hypothyroidism and plays a role in the differential diagnosis of myopathic complaints even if hypothyroidism has not been detected before. |
| first_indexed | 2024-03-11T12:41:06Z |
| format | Article |
| id | doaj.art-d1bd87f7ad914658bfbc877b63d053cf |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-03-11T12:41:06Z |
| publishDate | 2023-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-d1bd87f7ad914658bfbc877b63d053cf2023-11-05T12:18:48ZengBMCJournal of Medical Case Reports1752-19472023-10-011711510.1186/s13256-023-04184-6Hoffmann’s syndrome in the differential work-up of myopathic complaints: a case reportSabine Winter0Bianka Heiling1Niklas Eckardt2Christof Kloos3Hubertus Axer4Department of Neurology, Jena University Hospital, Friedrich Schiller UniversityDepartment of Neurology, Jena University Hospital, Friedrich Schiller UniversityDepartment of Radiology, Jena University Hospital, Friedrich Schiller UniversityDepartment of Internal Medicine III, Jena University Hospital, Friedrich Schiller UniversityDepartment of Neurology, Jena University Hospital, Friedrich Schiller UniversityAbstract Background Hoffmann’s syndrome is a rare form of hypothyroid myopathy in adults, which is mainly characterized by muscular weakness and muscular pseudohypertrophy. Case presentation We report about a 61-year-old Western European man with myalgia, myxedema and pseudohypertrophy of the calf muscles. Laboratory tests revealed significantly elevated thyroid stimulating hormone (TSH) and creatine kinase (CK). Muscle MRI showed muscular hypertrophy of the lower limbs, but no signs of myositis or myopathy (no gadolinium enhancement, no edema, no fatty degeneration). In addition, electromyography (EMG) detected spontaneous activity. After the beginning of thyroxin-therapy it took six months until the muscle weakness improved and the myalgia regressed. Conclusions Here, we focus on diagnostic routines and typical findings to differentiate Hoffmann’s syndrome from other myopathies. Clinical hallmarks of Hoffmann’s syndrome are pseudohypertrophy and weakness of the calf muscles in combination with elevated CK and elevated TSH. EMG is well suited to detect the involvement of the muscles and muscle MRI helps to differentiate it from other myopathies. Hoffmann’s syndrome is a rare myopathy due to hypothyroidism and plays a role in the differential diagnosis of myopathic complaints even if hypothyroidism has not been detected before.https://doi.org/10.1186/s13256-023-04184-6Hoffmann’s syndromeHypothyroidismMyopathyMRIMuscle biopsyEMG |
| spellingShingle | Sabine Winter Bianka Heiling Niklas Eckardt Christof Kloos Hubertus Axer Hoffmann’s syndrome in the differential work-up of myopathic complaints: a case report Journal of Medical Case Reports Hoffmann’s syndrome Hypothyroidism Myopathy MRI Muscle biopsy EMG |
| title | Hoffmann’s syndrome in the differential work-up of myopathic complaints: a case report |
| title_full | Hoffmann’s syndrome in the differential work-up of myopathic complaints: a case report |
| title_fullStr | Hoffmann’s syndrome in the differential work-up of myopathic complaints: a case report |
| title_full_unstemmed | Hoffmann’s syndrome in the differential work-up of myopathic complaints: a case report |
| title_short | Hoffmann’s syndrome in the differential work-up of myopathic complaints: a case report |
| title_sort | hoffmann s syndrome in the differential work up of myopathic complaints a case report |
| topic | Hoffmann’s syndrome Hypothyroidism Myopathy MRI Muscle biopsy EMG |
| url | https://doi.org/10.1186/s13256-023-04184-6 |
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