Myopathic sarcoidosis, an interdisciplinary challenge

After an uneventful postnatal period a girl was presented at the age of 18 months with progressive bilateral athropathy involving knees, feet, toes and fingers. Painful swelling of the knee joints was seen only once at the age of four, breathing seemed unimpaired, peripheral lymph nodes, liver or spleen were not enlarged. Laboratory investigation and bone x-rays did not point towards a juvenile rheumatoid arthritis (JRA). CD4/CD8 T-lymphozyte ratio was not increased. Due to the development of contractures further investigation lead to an ophthalomologically confirmed uveitis. Muscle biopsy revealed CD4+/CD8+ noncaeseating granuloma suggesting an underlying sarcoidosis. Diagnosis was confirmed by computertomography showing noduli in both lungs and slightly restrictive ventilation parameters in lung-functional examination. An antiinflamatory therapy was initiated.

Muscle involvement in childhood sarcoidosis is very rare, the etiology is not known. The incidence of sarcoidosis in children younger than 15 years in Denmark was reported to be 0.22–0.27 per 100 000 children per year with a clustering around age 9–15 and considerably less under the age of 4. The disease manifests as a waxing and waning and finally self-limiting process. Arthritis is not destructive, granuloma either resolve or heal by fibrosis as in our patient. CNS involvement with axonal involvement as well as renal and endocrine disturbances have been described. Only in elderly children the disease shows multisystemic disturbances such as fever, fatigue and weight loss in addition to the specific organ involvement. The most devastating complication is secondary glaucoma. Acute disease progression justifies NSAIDS or corticosteroid treatment whereas such a therapy is not considered helpful in chronic conditions. A multidisciplinary approach is warranted to ensure disease adapted therapy and rehabilitation.