CAJ | 학술논문

患儿男,5岁,壮族.出生时皮肤及生长发育正常.自1岁后逐渐出现奇特面容,体格发育迟缓,四肢挛缩、关节畸形,智力、语言发育障碍.4岁后逐渐出现颜面部蝶形红斑,全身多处红斑伴口腔溃疡.根据患儿典型的临床表现和实验室检查,诊断为Hurler综合征合并系统性红斑狼疮.入院后予泼尼松等治疗3个月后,面部及躯干、四肢红斑明显消退,口唇痂皮脱落、糜烂愈合,实验室各项生化指标好转,但体格、智力、言语发育落后状况无改善.黏多糖代谢障碍不仅可致黏多糖病,也可引发自身免疫障碍.
환인남,5세,장족.출생시피부급생장발육정상.자1세후축점출현기특면용,체격발육지완,사지련축、관절기형,지력、어언발육장애.4세후축점출현안면부접형홍반,전신다처홍반반구강궤양.근거환인전형적림상표현화실험실검사,진단위Hurler종합정합병계통성홍반랑창.입원후여발니송등치료3개월후,면부급구간、사지홍반명현소퇴,구진가피탈락、미란유합,실험실각항생화지표호전,단체격、지력、언어발육락후상황무개선.점다당대사장애불부가치점다당병,야가인발자신면역장애.
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.