婴儿期结节性硬化症合并郎格汉斯细胞组织细胞增多症并继发噬血细胞性淋巴组织细胞增生症1例报告

Tuberous sclerosis and Langerhans cell histiocytosis combined with secondary hemophagocytic lymphohistocytosis in infancy: a case report

目的探讨结节性硬化症(TSC)合并郎格汉斯细胞组织细胞增多症(LCH),并继发噬血细胞性淋巴组织细胞增生症(HLH)的诊断。方法回顾分析1例婴儿期诊断为TSC和LCH,且继发HLH患儿的临床资料。结果男性,1岁4个月,维吾尔族,生后4个月起病,以婴儿痉挛为首发症状,1岁时基因检测证实TSC2基因3-10号外显子杂合缺失,确诊为TSC的同时,患儿出现全身皮疹、发热、肝脾肿大和骨质缺损,经皮肤活检确诊为LCH,且又并发HLH。结论TSC合并LCH并继发HLH罕见,临床表现复杂,需要鉴别。

Objective To explore the diagnosis of tuberous sclerosis （TSC） combined with Langerhans cell histiocytosis （LCH） and secondary hemophagocytic lymphohistocytosis （HLH）. Methods One case diagnosed of TSC combined wiht LCH and secondary with HLH in infancy was retrospectively analyzed. Results One year and 4-month-old Uyghur boy when he was 4-month-old, there was onset of infantile spasm. Gene detection was performed when he was one year old and showed the absence of the exon 3 to 10 ofTSC2 gene. The diagnosis of TSC was confirmed. Meanwhile, the boy also suffered with skin rash all arotmd, fever, hepatosplenomegaly, and bone defect. The diagnosis of LCH was confirmed by skin biopsy. In addition, the boy was complicated HLH. Conclusions It is rarely seen that TSC combined with LCH, and secondary HLH in one case. The clinical features were complex and need to be differetiate.