Schwartz-Jampel综合征四例分析

Clinical analysis of four patients with Schwartz-Jampel syndrome

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.

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.