A girl aged 3 months presented with thrombocytopenia and bruising around a large vascular malformation of her posterior abdominal wall. Treatment was started with corticosteroids and platelet replacement, but with no ...A girl aged 3 months presented with thrombocytopenia and bruising around a large vascular malformation of her posterior abdominal wall. Treatment was started with corticosteroids and platelet replacement, but with no improvement and a platelet count persistently less than 10×109/L over 3 weeks, α-interferon was added. There was an immediate increase in bruising, a fall in platelet count, and an increase in platelet transfusion requirement until interferon was discontinued 11 days later. After a further week, the platelet count returned to the levels before interferon, but the patient did not develop any further symptoms. The platelet count remained low with no clinical change until pentoxifylline was start ed at the age of 15 months. The platelet count rose to 117×109/L within 4 days and remai- ned more than 100×109/L thereafter. The patient is now 7 years old and has had no recurrence since stopping the pentoxifylline at the age of 5 years. Although thrombocytopenia is a recognized side effect of interferon therapy, this very dangerous complication has not been previously reported using interferon for the Kasabach-Merritt syndrome.展开更多
小头畸形-骨发育不良-原基性侏儒综合征Ⅱ型（Microcephalic or Majewski′s osteodysplastic primordial dwarfism type Ⅱ，MOPD Ⅱ）主要由中心体粒周蛋白（Pericentrin，PCNT）基因功能性突变所引起，临床上极其罕见。本文报道1例1...小头畸形-骨发育不良-原基性侏儒综合征Ⅱ型（Microcephalic or Majewski′s osteodysplastic primordial dwarfism type Ⅱ，MOPD Ⅱ）主要由中心体粒周蛋白（Pericentrin，PCNT）基因功能性突变所引起，临床上极其罕见。本文报道1例13岁男孩，因＂身高增长缓慢13年余，肤色加深半年余＂入院，除MOPD Ⅱ表现外还合并完全性生长激素缺乏症、2型糖尿病、高血压和黑棘皮病，多发牛奶咖啡斑。但头颅磁共振无动脉瘤等血管畸形。二代测序显示患者PCNT基因存在无义突变c.502C〉T（p.Gln168＊杂合突变）和c.3103C〉T（p.Arg1035＊杂合突变），均为新突变，其父携带无义突变c.3103C〉T（p.Arg1035＊杂合突变），其母携带无义突变c.502C〉T（p.Gln168＊杂合突变）。给予患儿二甲双胍片等治疗后，其血糖趋于正常，黑棘皮较治疗前减轻。针对PCNT基因突变的MOPD Ⅱ患者，需要定期评估血管异常情况。展开更多
文摘A girl aged 3 months presented with thrombocytopenia and bruising around a large vascular malformation of her posterior abdominal wall. Treatment was started with corticosteroids and platelet replacement, but with no improvement and a platelet count persistently less than 10×109/L over 3 weeks, α-interferon was added. There was an immediate increase in bruising, a fall in platelet count, and an increase in platelet transfusion requirement until interferon was discontinued 11 days later. After a further week, the platelet count returned to the levels before interferon, but the patient did not develop any further symptoms. The platelet count remained low with no clinical change until pentoxifylline was start ed at the age of 15 months. The platelet count rose to 117×109/L within 4 days and remai- ned more than 100×109/L thereafter. The patient is now 7 years old and has had no recurrence since stopping the pentoxifylline at the age of 5 years. Although thrombocytopenia is a recognized side effect of interferon therapy, this very dangerous complication has not been previously reported using interferon for the Kasabach-Merritt syndrome.
