Tsai Anne Chun-Hui, Morel Chantal F, Scharer Gunter, Yang Michael, Lerner-Ellis Jordan P, Rosenblatt David S, Thomas Janet A
Division of Clinical Genetics and Metabolism, The Children's Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA.
Am J Med Genet A. 2007 Oct 15;143A(20):2430-4. doi: 10.1002/ajmg.a.31932.
We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G > A mutations in the MMACHC gene. The patient had a past medical history significant for joint hypermobility, arthritis, bilateral cataracts, unilateral hearing loss, anemia, frequent urinary tract infections, and mental illness. There was no significant past history of mental retardation, failure to thrive, or seizure disorder as reported in classic cases of cblC. Prior to the thrombotic incident, the patient experienced increased paresthesia in the lower extremities, myelopathy, and impaired gait. Given her previous psychiatric history, she was misdiagnosed with malingering until hemiplegia and incontinence became apparent. The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset cblC. Ten other reported late onset cases with similar presentations are also reviewed.
我们报告了一例36岁的西班牙裔女性脊髓梗死病例，该患者随后被诊断为甲基丙二酸尿症和同型胱氨酸尿症，cblC型（cblC）。突变分析显示MMACHC基因存在c.271dupA和c.482G>A突变。该患者既往病史包括关节活动过度、关节炎、双侧白内障、单侧听力丧失、贫血、频繁尿路感染和精神疾病。与经典cblC病例报道不同，该患者既往无明显智力发育迟缓、生长发育不良或癫痫发作病史。在发生血栓事件之前，患者下肢感觉异常加重、出现脊髓病和步态障碍。鉴于她之前的精神病史，在偏瘫和尿失禁明显之前，她被误诊为诈病。作者强调应认识到迟发性cblC的神经精神表现。本文还回顾了其他10例报告的具有类似表现的迟发性病例。
