A 5-year-old boy of Zhuang nationality, whose skin, growth and development were normal at birth, had gradually developed peculiar facial appearance, physical retardation, contracture of the extremities, joint deformity, developmental intelligence and language impairment since the age of 1 year. After 4 years of age, butterfly erythema gradually developed on the face, and erythema appeared at multiple body sites with oral ulcer. According to the typical clinical manifestations and laboratory examination results, the boy was diagnosed with Hurler syndrome complicated by systemic lupus erythematosus. After the treatment with prednisone for 3 months in hospital, erythema on the face, trunk and extremities obviously faded, crusts on the oral lips shed, erosions healed, and biochemical parameters were restored, but no improvement was seen in physical retardation or developmental intelligence and language impairment. It is suggested that the impairment of mucopolysaccharide metabolism can not only cause mucopolysaccharidosis, but also result in autoimmune disorders.

Mucopolysaccharidosis I; Lupus erythematosus, systemic; Child; Zhuang nationality; Case reports