ABSTRACT
A retrospective analysis was performed on the clinical data of a child with X-linked hyper IgM syndrome (XHIGM) with cholangiectasis as a major manifestation in Children′s Hospital of Fudan University in March 2017.The patient was a 4-year-old boy who was admitted to the hospital due to repeated diarrhea for half a year and yellow skin for 5 days.No abnormalities were found in his fetal period and birth history; The patient had 2 severe pneumonias and suppurative infection of the left axillary lymph node in infancy.Physical examination revealed delayed physical development, severe malnutrition, moderately stained yellow, lymphadenopathy and hepatomegaly.Laboratory examinations showed elevated leukocyte, eosinophils and C-reactive protein, low hemoglobin and albumin, high gamma-glutamyl transpeptidase (GGT), low IgG and normal IgM.Imaging examination revealed diffuse expansion of intrahepatic and extrahepatic bile ducts.Hepatic pathology showed hyperplasia in the bile canaliculus and some fibrous tissues around the large bile ducts.High-throughput sequencing identified a pathogenic mutation in the XHIGM gene CD 40LG (exon5 c. 506A>G, p.Y169C), with his mother as a carrier.After admission, the patient was given anti-infection, diet adjustment, albumin, intravenous immunoglobulin and ursodeoxycholic acid.The patient was discharged after the improvement in his condition.This case suggested that in addition to the common infection characteristics, XHIGM can also be manifested as diffuse intrahepatic, extrahepatic cholangiectasis and significantly elevated eosinophil.c.506A>G mutation in CD 40LG was the pathogenic mutation of this disease.