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Background <p>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting motor neurons, with 90% of cases being sporadic. Sarcoidosis is an inflammatory disease affecting multiple organs, with neurological complications occurring in 5–10% of patients. Only isolated cases of this extremely rare combination of the two diseases have been reported.</p> Methods <p>We present the case of a 45-year-old man diagnosed with ALS after a 2-year history of progressive upper limb weakness who was incidentally found to be affected by thoraco-abdominal lymphadenopathy. The biopsy confirmed the co-presence of sarcoidosis. We also make a systematic review of the literature of this rare combination.</p> Results <p>The patient showed stabilization of the neurological condition and the pneumological disease after administration of immunosuppressive treatment.</p> Conclusion <p>Our case report and literature review highlight peculiar clinical characteristics of this extremely rare combination of diseases, deepening the understanding of this peculiar phenotype.</p>

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Co-occurence of amyotrophic lateral sclerosis and sarcoidosis: a case report and systematic review of the literature

  • 期刊论文

  • 发表日期：

    2025年6月20日

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  • Luigi Bonan,
  • Marcello Bombardi,
  • Andrea Di Lionardo,
  • Maria Vitiello,
  • Simonetta Morresi,
  • Marco Longoni

摘要

Background

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting motor neurons, with 90% of cases being sporadic. Sarcoidosis is an inflammatory disease affecting multiple organs, with neurological complications occurring in 5–10% of patients. Only isolated cases of this extremely rare combination of the two diseases have been reported.

Methods

We present the case of a 45-year-old man diagnosed with ALS after a 2-year history of progressive upper limb weakness who was incidentally found to be affected by thoraco-abdominal lymphadenopathy. The biopsy confirmed the co-presence of sarcoidosis. We also make a systematic review of the literature of this rare combination.

Results

The patient showed stabilization of the neurological condition and the pneumological disease after administration of immunosuppressive treatment.

Conclusion

Our case report and literature review highlight peculiar clinical characteristics of this extremely rare combination of diseases, deepening the understanding of this peculiar phenotype.