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

VernacularTitle: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
Author: Fen CHEN ; Yan SUN ; Xinhui LUO
Keywords: tuberous sclerosis; Langerhans cell histiocytosis; hemophagocytic lymphohistocytosis
From: Journal of Clinical Pediatrics 2017;35(1):46-49
CountryChina
Language:Chinese
Abstract: 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 around,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.