CAJ | 학술논문

背景恶性婴儿型石骨症患者临床上非常少见,合并眼部症状的病例罕见.由于该病延误治疗时预后差,因此受到临床医师的高度关注,而恶性婴儿型石骨症合并眼部症状的患儿治疗后眼部症状是否改善也是值得研究的问题. 目的分析恶性婴儿型石骨症合并眼部症状患者的发病特点、眼部表现、治疗及预后.方法收集在首都医科大学附属北京儿童医院确诊的恶性婴儿型石骨症合并眼部症状的患儿2例,对患儿进行全身临床检查和眼部检查,包括一般体格检查、实验室血液学检查、腹部B型超声检查、全身骨骼X线摄片、外眼检查、闪光视觉诱发电位(F-VEP)检查和眼部CT检查.对患儿行骨髓造血干细胞移植术并进行5年的随访,观察患儿的症状改善情况.结果患儿白细胞总数增加、血小板数量减少,进行性贫血,腹部B型超声检查提示肝脏、脾脏肿大,全身骨骼系统均有密度增高、增厚等特征性改变.治疗前1例女性患儿同时存在视神经管狭窄、视盘苍白、右侧面部肌肉麻痹和麻痹性内斜视;而另1例男性患儿存在视神经管狭窄和交替性外斜视,2例患儿均存在F-VEP P2波潜伏期延长和振幅下降.2例患儿均成功进行骨髓造血干细胞移植术,术后全身症状均明显改善,女性患儿F-VEP结果稍有改善,术后1年视神经管直径为1.9mm,随访至5年视神经管直径增宽到3.2mm,但斜视和视神经萎缩症状无改善;而男性患儿除视神经管增宽外,双眼共转性斜视症状消失.结论斜视和眼部症状是恶性婴儿型石骨症重要临床表现的一部分,是中枢神经系统受损的反映,发病机制尚不明确,应该引起重视.恶性婴儿型石骨症的早期治疗可有效改善全身症状和部分眼部症状,挽救患者的视功能.
배경 악성영인형석골증환자림상상비상소견,합병안부증상적병례한견.유우해병연오치료시예후차,인차수도림상의사적고도관주,이악성영인형석골증합병안부증상적환인치료후안부증상시부개선야시치득연구적문제. 목적 분석악성영인형석골증합병안부증상환자적발병특점、안부표현、치료급예후.방법 수집재수도의과대학부속북경인동의원학진적악성영인형석골증합병안부증상적환인2례,대환인진행전신림상검사화안부검사,포괄일반체격검사、실험실혈액학검사、복부B형초성검사、전신골격X선섭편、외안검사、섬광시각유발전위(F-VEP)검사화안부CT검사.대환인행골수조혈간세포이식술병진행5년적수방,관찰환인적증상개선정황.결과 환인백세포총수증가、혈소판수량감소,진행성빈혈,복부B형초성검사제시간장、비장종대,전신골격계통균유밀도증고、증후등특정성개변.치료전1례녀성환인동시존재시신경관협착、시반창백、우측면부기육마비화마비성내사시;이령1례남성환인존재시신경관협착화교체성외사시,2례환인균존재F-VEP P2파잠복기연장화진폭하강.2례환인균성공진행골수조혈간세포이식술,술후전신증상균명현개선,녀성환인F-VEP결과초유개선,술후1년시신경관직경위1.9mm,수방지5년시신경관직경증관도3.2mm,단사시화시신경위축증상무개선;이남성환인제시신경관증관외,쌍안공전성사시증상소실.결론 사시화안부증상시악성영인형석골증중요림상표현적일부분,시중추신경계통수손적반영,발병궤제상불명학,응해인기중시.악성영인형석골증적조기치료가유효개선전신증상화부분안부증상,만구환자적시공능.
Background Malignant osteopetrosis is an extremely rare dense bone disease,and sometimes features ocular disease and cranial nerve palsy.This disease received high attention because of its poor prognosis.And whether the eye manifestation improved after treatment is a problem for concern.Objective This study was to clarify the clinical manifestation,treatment and prognosis of malignant osteopetrosis associated with ocular disease.Methods A retrospective study was adopted.Two children with malignant osteopetrosis associated with eye symptoms were collected from Beijing Children Hospital.The systemic and ocular medical examinations were performed on the patients,including physical examination,hematology laboratory examination,abdominal B ultrasound and bone X ray radiography,external ocular examination,flash visual evoked potential (F-VEP) and CT of orbit.Bone marrow hematopoietic stem cell transplantation was employed and 5-year following-up was cinducted on the chidren.Results The children showed increased bone density,systemic bone sclerosis,basilar thickening,abnormalities of hematology indexes,anemia,hepatosplenomegaly,optical canal stenosis and abnormality of F-VEP P2 wave.In addition,optical disc pale,facial paralysis and paralytic esotropia were seen in a female child and alternating strabismus was found in another boy.After successful treatment,the systemic symptoms remitted in both children,but the eye findings remained unchanged in the female child during the follow-up duration.However,the strabismus diminished in the male child.The optical bone canal widening to 1.9 mm 1 year and 3.2 mm 5 years after treatment in the female child.Conclusions Strabismus and eye disease are the signs of malignant infantile osteopetrosis and reflections of the impairment of the central nervous system.The pathogenetic mechanism of malignant osteopetrosisrelated eye disease is below understanding now.Early bone marrow hematopoietic stem cell transplantation for malignant osteopetrosis can offer the best chance of long-term survival and improve the prognosis of eye diseases.