中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2012年
3期
231-234
,共4页
骨软骨发育不良%肌强直%Schwartz-Jampel综合征
骨軟骨髮育不良%肌彊直%Schwartz-Jampel綜閤徵
골연골발육불량%기강직%Schwartz-Jampel종합정
Schwartz-Jampel syndrome%Osteochondrodysplasias%Myotonia
目的 探讨Schwartz-Jampel综合征的临床特征、诊断和治疗.方法 对4例SchwartzJampel综合征患儿的临床资料进行分析.结果 4例均为男性,起病年龄6个月至1岁3个月,平均10个月,均为隐匿起病,就诊年龄2岁2个月至10岁,平均5岁11个月.身高位于同年龄同性别儿童第3百分位数值以下,面部表情僵硬、口唇前撅、张口困难,睑裂狭小、四肢僵硬.辅助检查:肌酸激酶229 ～1039 U/L(正常值＜200 U/L),肌酸激酶同工酶30 ～ 45 U/L(正常值＜25 U/L),乳酸脱氢酶455 ～716 U/L(正常值＜240 U/L).肌电图可见强直电位,影像学可见骨骼畸形,2例患儿肌肉活组织病理检查提示Ⅰ型肌纤维大小不规则,比例失调.4例患儿均予口服B族维生素对症治疗及康复训练,给予其中1例卡马西平口服,四肢肌肉僵硬及睑肌痉挛均有好转.结论 Schwartz-Jampel综合征以特殊面容、骨骼畸形、肌强直、身材矮小为主要临床表现,血清肌酶升高,肌电图强直电位.部分患儿卡马西平治疗有效.
目的 探討Schwartz-Jampel綜閤徵的臨床特徵、診斷和治療.方法 對4例SchwartzJampel綜閤徵患兒的臨床資料進行分析.結果 4例均為男性,起病年齡6箇月至1歲3箇月,平均10箇月,均為隱匿起病,就診年齡2歲2箇月至10歲,平均5歲11箇月.身高位于同年齡同性彆兒童第3百分位數值以下,麵部錶情僵硬、口脣前撅、張口睏難,瞼裂狹小、四肢僵硬.輔助檢查:肌痠激酶229 ～1039 U/L(正常值＜200 U/L),肌痠激酶同工酶30 ～ 45 U/L(正常值＜25 U/L),乳痠脫氫酶455 ～716 U/L(正常值＜240 U/L).肌電圖可見彊直電位,影像學可見骨骼畸形,2例患兒肌肉活組織病理檢查提示Ⅰ型肌纖維大小不規則,比例失調.4例患兒均予口服B族維生素對癥治療及康複訓練,給予其中1例卡馬西平口服,四肢肌肉僵硬及瞼肌痙攣均有好轉.結論 Schwartz-Jampel綜閤徵以特殊麵容、骨骼畸形、肌彊直、身材矮小為主要臨床錶現,血清肌酶升高,肌電圖彊直電位.部分患兒卡馬西平治療有效.
목적 탐토Schwartz-Jampel종합정적림상특정、진단화치료.방법 대4례SchwartzJampel종합정환인적림상자료진행분석.결과 4례균위남성,기병년령6개월지1세3개월,평균10개월,균위은닉기병,취진년령2세2개월지10세,평균5세11개월.신고위우동년령동성별인동제3백분위수치이하,면부표정강경、구진전궤、장구곤난,검렬협소、사지강경.보조검사:기산격매229 ～1039 U/L(정상치＜200 U/L),기산격매동공매30 ～ 45 U/L(정상치＜25 U/L),유산탈경매455 ～716 U/L(정상치＜240 U/L).기전도가견강직전위,영상학가견골격기형,2례환인기육활조직병리검사제시Ⅰ형기섬유대소불규칙,비례실조.4례환인균여구복B족유생소대증치료급강복훈련,급여기중1례잡마서평구복,사지기육강경급검기경련균유호전.결론 Schwartz-Jampel종합정이특수면용、골격기형、기강직、신재왜소위주요림상표현,혈청기매승고,기전도강직전위.부분환인잡마서평치료유효.
Objective To analyze the clinical manifestation,diagnosis and treatment of SchwartzJampel syndrome (SJS).Method The clinical data,including demographic,laboratory tests (creatase,creatine kinase,etc.) and electromyography of 4 children with SJS were analyzed.Result All the 4patients were male.The age of onset was from 0.5 to 1.25 years ( average 0.83 years).The onset of 4patients was insidious,the age to see doctor was from 2.17 to 10 years (average 5.92 years),body height was less than the third percentile rank in the children of same age and gender,they presented with facial expression stiffness,microstomia,difficult in opening mouth,blepharophimosis,limbs stiffness and,so formed a characteristic phenotype.Investigations showed the creatase in serum increased,creatine kinase (CK):229 - 1039 U/L( normal value ＜ 200 U/L),Creatine Kinase MB (CK-MB):30 - 45 U/L( normal value ＜25 U/L),lactate dehydrogenase (LDH):455 -716 U/L (normal value ＜ 240 U/L).General myotonia potential was found in electromyography,osteoarticular deformities in medical imaging,and muscle biopsy in 2 patients showed type Ⅰ muscle fibers differed in size and were disproportionate.All the patients took oral vitamine B,and received rehabilitation training,1 patient took carbamazepine for 1 month,blepharophimosis and limbs stiffness was improved.Conclusion SJS is a rare autosomal recessive inherited disease.Clinical manifestations of SJS are characteristic facies,skeletal abnormalities,generous myotonia and short stature.Carbamazepine is effective for treatment.
