Osteoarticular changes in Refsum’s disease: a case report

Abstract

Background Refsum’s Disease (RD) is a rare and complex disease of lipid metabolism with the domination of neurological symptoms and impacting the metabolism of phytanic acid. The metabolic block, inherited in an autosomal recessive manner, affects the growth and functioning of the myelin sheath around nerve cells. Approximately 35% of RD patients have changes in their osteoarticular system. The most common anomalies are shortening and deformity of many tubular bones in the hands and feet. Over time, chronic, progressive, symmetrical, and mixed motor-sensory polyneuropathy develops, initially involving the lower limbs, and later, the upper limbs. It leads to muscle weakness and walking disorders. Prevalence rates are not known but RD may be under-diagnosed. Case presentation We report an interesting case of a 49-year-old woman with symmetrical bone anomaly in the feet and hands, diagnosed with RD. Though she had the changes typical of RD since childhood, she was not diagnosed until her 40s, once serious complications of RD appeared. Conclusions Early diagnosis of RD is essential for implementation of effective treatment to significantly improve quality of life of the patient. We should always consider running expanded diagnostics, including genetic tests, with patients presenting with bone changes typical for RD. The interdisciplinary approach from different specialists is the key to reduce symptoms and complications. The factors influencing the development of bone, joint, and muscle anomalies in RD are still unknown.