MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW

ABSTRACT Objective: To report a rare case of mucopolysaccharidosis IIIB in a pediatric patient, with emphasis on the description of the clinical manifestations and the early diagnosis. Case description: A 14-year-old male patient, who presented regression of neuropsychomotor development since his three years and six months old, with speech loss and frequent falls, evolving with behavioral changes, with agitation and aggressiveness. Although being diagnosed with autism, there was no response to the established treatment; he was subsequently submitted to metabolic investigation, which lead to the diagnosis of Mucopolysaccharidosis IIIB. Comments: Identifying a metabolic disorder requires connecting multiple signs and symptoms, as well as eliminating other apparent causes. MPS IIIB is a diagnostic challenge, particularly in the early stages and in the absence of a family history of the disease.

摘要
研究目的：报告一例罕见的小儿ⅢB型黏多糖贮积症（Mucopolysaccharidosis IIIB）病例，重点阐述其临床表现与早期诊断要点。
病例资料：患者为14岁男性，自3岁6个月起出现神经精神运动发育倒退，伴随言语丧失及频繁跌倒，随后出现行为异常，表现为烦躁不安与攻击性行为。尽管曾被诊断为孤独症（Autism），但经既定治疗后无明显改善；后续通过代谢相关检查，最终确诊为ⅢB型黏多糖贮积症。
评述：明确代谢性疾病的诊断需综合关联多体征与症状，并排除其他疑似病因。ⅢB型黏多糖贮积症的诊断颇具挑战，尤其在疾病早期且无家族病史的情况下。