Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Eur J Pediatr. 2010 Aug;169(8):1029-32. doi: 10.1007/s00431-009-1127-5. Epub 2009 Dec 29.
Although rare, Munchausen syndrome by proxy (MBP) is a potentially life-threatening form of child abuse. Here, we report a 19-month-old female infant who presented with hepatosplenomegaly, anemia, thrombocytopenia, and recurrent septicemia. She was initially thought to have myelodysplastic syndrome. Further hematological and immunological investigations revealed no cause. beta-Glucosylceramidase enzyme activity on dried blood spot was suggestive of Gaucher disease. However, the enzyme level on cultured skin fibroblast was not consistent with Gaucher disease. The first hint about MBP was the recurrent sepsis with numerous gram negative rods. Furthermore, the mother's behavior and health history raised our suspicion about MBP. The child showed significant improvement after she was separated from the mother for a week. Finally, the mother confessed that she was spitting in local herbs and injecting it into the central line. This is, to our knowledge, the first report of MBP resembling in its presentation Gaucher disease. This case should alert the general and specialized pediatricians about MBP, as it may mimic metabolic diseases like Gaucher disease.
虽然罕见，但代理型孟乔森综合征（Munchausen syndrome by proxy，MBP）是一种潜在的危及生命的儿童虐待形式。在这里，我们报告了一例 19 个月大的女性婴儿，她表现为肝脾肿大、贫血、血小板减少和反复败血症。她最初被认为患有骨髓增生异常综合征。进一步的血液学和免疫学研究没有发现任何原因。干血斑上的β-葡萄糖脑苷脂酶活性提示戈谢病。然而，培养的皮肤成纤维细胞上的酶水平与戈谢病不一致。第一个提示 MBP 的线索是反复出现的败血症，伴有大量革兰氏阴性杆菌。此外，母亲的行为和健康史引起了我们对 MBP 的怀疑。孩子在与母亲分离一周后，病情明显好转。最后，母亲承认她在当地草药中吐痰并将其注入中心静脉。据我们所知，这是首例表现为戈谢病样的 MBP 报告。这个病例应该引起普通儿科医生和专科医生对 MBP 的警惕，因为它可能模仿戈谢病等代谢疾病。
