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患者男性,14岁,因头痛、呕吐6个月,伴双眼视物不清入院。患者出生时即有六指(趾)畸形,体型肥胖,7岁时因肥胖入我院检查。双眼视力均为0.6,智力较同龄儿童低下,尿检及肾功能无异常改变。诊断为“性幼稚—视网膜色素变性—多指(趾)畸形综合征(Laurence-Moon-Bicdel syndrome,简称Laurcne综合征)。半年前无明显诱因出现头痛,恶心、呕吐,视物不清,血压增高(21/15kPa),并有蛋白尿(2+),血尿素氮14.0mmol/L。给予心痛定、包醛氧淀粉及中医中药治疗,效果不理想而入院。父母身体健康,非近亲结婚,家族成员中无类似病史。体检:肥胖体型,贫血貌,身高148cm,体重54kg,双眼视力仅有光感。胸廓无畸形,心界向左下扩大,心率82次/min,律齐。腹软,肝脾肋下未及。右脚仍有6趾,双手及左脚已切除一指(趾),可见手术癜痕。外生殖器短小,无阴毛,睾丸发育正常。辅助检查:尿常规蛋白3.0g/L;红细胞150/μl,血尿素氮24.0mmol/L,Scr 1242μmol/L;Hb 5.7g/L;双肾B超:右肾8.0×4.2cm,左肾9.6×3.4cm,皮质回声增强,皮髓交界不清。心脏彩色超声示:左心室肥大。讨论 Laurence 在1886年首先报道此征,以后
Male patient, 14 years old, vomited for 6 months due to a headache and was not admitted to hospital with binocular vision. The patient is born with six fingers (toe) deformity, body fat, 7 years old due to obesity into our hospital examination. Binocular vision were 0.6, lower intelligence than children of the same age, urinalysis and no abnormal changes in renal function. Diagnosed as "sexual naïve - retinitis pigmentosa - multiple deformity syndrome (Laurence-Moon-Bicdel syndrome, referred to as Laurcne syndrome.) Six months ago no obvious incentive to headache, nausea, vomiting, blurred vision, blood pressure (21 / 15kPa), and proteinuria (2), blood urea nitrogen 14.0mmol / L. Given to the heart will be given, oxygenated starch and the treatment of traditional Chinese medicine, the effect is not ideal and hospitalized. Parents healthy, non-relatives get married , Family members no similar medical history Physical examination: obese body type, anemia appearance, height 148cm, weight 54kg, binocular visual acuity only sense of light thoracic no deformity, the heart bound to the lower left, heart rate 82 beats / min, law Qi. , Liver and spleen not under the ribs .There are still 6 right toe, both hands and left foot has been removed a finger (toe), visible surgical scar mark .External genitalia short, no pubic hair, testicular normal .Auxiliary examination: urine routine protein 3.0 g / L; Erythrocyte 150 / μl, BUN 24.0mmol / L, Scr 1242μmol / L; Hb 5.7g / L; B Kidney B: Right kidney 8.0 × 4.2cm, left kidney 9.6 × 3.4cm, , The junction of the skin marrow is not clear Heart color ultrasound showed: Left ventricular hypertrophy. Discussion Laurence first reported in 1886 this sign, after