Tuberous sclerosis and Langerhans cell histiocytosis combined with secondary hemophagocytic lymphohistocytosis in infancy: a case report / 临床儿科杂志

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.