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目的探讨因生物素酶缺乏症所致皮肤、神经损害患儿的临床特征、诊断与治疗方法。方法运用尿有机酸分析(气相色谱-质谱联用)及干燥血液生物素酶活性测定进行筛查与诊断,对患儿的临床表现、生化特点、诊疗情况进行分析。结果患儿男,生后2个月头部出现散在湿疹、脓疱疹,8个月时全身发红、脓疱疹;智力发育正常,运动发育落后,6个月起出现肌张力不全样发作。5岁4个月时来院。体检见重度营养不良貌,毛发稀黄,全身弥漫性浸润性红斑,头面部、躯干、四肢散在脓疱疹,表面可见脓痂。全身瘫痪,四肢挛缩,躯干及四肢肌张力增高。实验室检查发现轻度贫血、代谢性酸中毒、血浆肌酸激酶增高。有机酸分析显示尿乳酸、丙酮酸、3-羟基丙酸、丙酰甘氨酸、甲基巴豆酰甘氨酸增高。干燥滤纸血片生物素酶活性<0.1pmol·min-1·3mm-1,符合生物素酶缺乏症。经生物素(10mg/d)补充治疗与营养干预后,患儿全身情况逐渐好转,2周后皮疹愈合,经康复训练后,运动能力亦逐渐提高。结论生物素酶缺乏症常导致严重皮肤与神经系统损害,早期诊断与治疗是挽救患儿的关键。该患儿以脓疱性银屑病样损害及肌张力不全型脑性瘫痪为主要表现,生物素补充治疗疗效显著,但由于发现过晚,遗留下肢痉挛性瘫痪。
Objective To investigate the clinical features, diagnosis and treatment of children with skin and nerve damage caused by biotinase deficiency. Methods Urine organic acid analysis (GC-MS) and dry blood biotinase activity were used for screening and diagnosis. The clinical manifestations, biochemical characteristics and diagnosis and treatment of children were analyzed. Results Male children, 2 months after birth, head scattered scattered eczema, impetigo, 8 months when the whole body redness, impetigo; normal mental development, physical development and backwardness, 6 months from the occurrence of muscular tension insufficiency-like attack. 5 years old 4 months to hospital. Physical examination showed severe malnutrition appearance, thin yellow hair, systemic diffuse infiltrative erythema, head and face, torso, limbs were scattered impetigo, the surface can be seen pus scab. Whole body paralysis, limb contracture, trunk and limb muscle tension increased. Laboratory tests found mild anemia, metabolic acidosis, increased plasma creatine kinase. Organic acid analysis showed that urinary lactic acid, pyruvate, 3-hydroxypropionic acid, propionyl glycine, methyl crotonyl glycine increased. Dry filter paper biotin activity <0.1pmol · min-1 · 3mm-1, in line with the biotinidase deficiency. After biotin (10mg / d) treatment and nutritional supplements, the general condition of children gradually improved, after 2 weeks the rash healed, after rehabilitation training, exercise capacity also gradually increased. Conclusions Biotinase deficiency often leads to serious skin and nervous system damage. Early diagnosis and treatment are the key to saving children. The children with pustular psoriasis-like lesions and dystonia-type cerebral palsy as the main performance of the treatment of significant effect of biotin, but because of the discovery of late, left lower extremity spastic paralysis.