# Sarcoidosis With Muscular and Peripheral Nervous System Involvement: An Atypical Presentation of a Rare Disease

**Authors:** Gonçalo Carneiro, Luís Fontão, Ricardo Taipa, Mafalda Santos, Ana Raquel Freitas

PMC · DOI: 10.7759/cureus.103109 · Cureus · 2026-02-06

## TL;DR

This paper presents a rare case of sarcoidosis affecting muscles and nerves, highlighting its atypical presentation and diagnostic challenges.

## Contribution

The novelty lies in describing sarcoidosis with neuromuscular involvement as a primary manifestation without typical pulmonary signs.

## Key findings

- Muscle biopsy confirmed non-caseating granulomatous myositis in a patient with no pulmonary sarcoidosis signs.
- The patient responded to corticosteroids but developed sensory axonal polyneuropathy during tapering.
- The case emphasizes considering sarcoidosis in unexplained neuromuscular syndromes.

## Abstract

Neuromuscular sarcoidosis is uncommon and may represent a diagnostic challenge, particularly in the absence of more typical sarcoidosis manifestations such as pulmonary involvement. We report a case of a 71-year-old male presenting with constitutional symptoms, weight loss, progressive gait impairment, hypercalcemia, and acute kidney injury. Initial evaluation excluded malignancy, active infection, and monoclonal gammopathy. Advanced imaging showed diffuse muscular involvement, and muscle biopsy confirmed non-caseating granulomatous myositis, establishing the diagnosis of muscular sarcoidosis. The patient improved with corticosteroid therapy but developed sensory axonal polyneuropathy during tapering, requiring steroid-sparing immunosuppression with azathioprine. This case highlights the need to consider sarcoidosis in unexplained systemic and neuromuscular syndromes, even in the absence of pulmonary or other common extrapulmonary manifestations.

## Linked entities

- **Chemicals:** azathioprine (PubChem CID 2265)
- **Diseases:** sarcoidosis (MONDO:0008399), acute kidney injury (MONDO:0002492), monoclonal gammopathy (MONDO:0004960)

## Full-text entities

- **Genes:** ACE (angiotensin I converting enzyme) [NCBI Gene 1636] {aka ACE1, CD143, DCP, DCP1}, PTH (parathyroid hormone) [NCBI Gene 5741] {aka FIH1, PTH1}, CD68 (CD68 molecule) [NCBI Gene 968] {aka GP110, LAMP4, SCARD1}, HLA-G (major histocompatibility complex, class I, G) [NCBI Gene 3135] {aka MHC-G}, AP2B1 (adaptor related protein complex 2 subunit beta 1) [NCBI Gene 163] {aka ADTB2, AP105B, AP2-BETA, CLAPB1}
- **Diseases:** granulomatous disease (MESH:D006105), lymphadenopathy (MESH:D008206), autoimmune and (MESH:D001327), granulomatous myositis (MESH:D009220), acute kidney injury (MESH:D058186), metabolic abnormalities (MESH:D008659), genetic diseases (MESH:D030342), primary hyperparathyroidism (MESH:D049950), neurological deficits (MESH:D009461), proteinuria (MESH:D011507), cranial neuropathies (MESH:D003389), inflammation (MESH:D007249), degenerative (MESH:D019636), small-fiber neuropathy (MESH:D000071075), granulomatous muscle involvement (MESH:C566343), granulomatous (MESH:D013968), multiple myeloma (MESH:D009101), neurological involvement (MESH:C538190), malignancy (MESH:D009369), thoracic disease (MESH:D013896), polyneuropathy (MESH:D011115), anorexia (MESH:D000855), Neurosarcoidosis (MESH:C535814), gait difficulties (MESH:D020234), paresthesia (MESH:D010292), Muscular and Peripheral Nervous System (MESH:D010523), granulomas (MESH:D006099), systemic (MESH:D015619), asthenia (MESH:D001247), neuromuscular involvement (MESH:D009468), Autoimmune and myositis (MESH:D020721), systemic and neuromuscular syndromes (MESH:D020879), plasma cell disorders (MESH:D007952), organomegaly (MESH:D016878), lumbar spine disease (MESH:C535531), axonal from demyelinating neuropathy (MESH:D003711), arterial hypertension (MESH:D000081029), infection (MESH:D007239), Neuromuscular sarcoidosis (MESH:D012507), monoclonal gammopathies (MESH:D010265), weight loss (MESH:D015431), hypercalcemia (MESH:D006934), hypoesthesia (MESH:D006987), lytic bone lesions (MESH:D001847)
- **Chemicals:** zoledronic acid (MESH:D000077211), lisinopril (MESH:D017706), sodium chloride (MESH:D012965), azathioprine (MESH:D001379), steroid (MESH:D013256), glucose (MESH:D005947), creatinine (MESH:D003404), calcium (MESH:D002118), Prednisolone (MESH:D011239), furosemide (MESH:D005665), hydrochlorothiazide (MESH:D006852), 18F-FDG (MESH:D019788)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12967786/full.md

## References

11 references — full list in the complete paper: https://tomesphere.com/paper/PMC12967786/full.md

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Source: https://tomesphere.com/paper/PMC12967786