AUTHOR=Song Zhenqi , Wang Kongjian , Arthur Djandan Tadum , Tang Zhongwen , Xiang Feng , Wen Jie , Xiao Sheng 

TITLE=Case report: Glucose 6-phosphate-isomerase deficiency combine with avascular necrosis of bilateral femoral head

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 10 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.909752

DOI=10.3389/fped.2022.909752

ISSN=2296-2360

ABSTRACT=Backgroud：Glucose 6-phosphate-isomerase deficiency(GPI) is an uncommon autosomal recessive genetic disorder characterized by chronic asphoric hemolytic anemia, jaundice, and hepatospleenomegaly of varying degrees. Avascular necrosis of femoral head in children may caused by Legg-calve-perthes disease or hematological diseases. But there is no literature report femoral head avascular necrosis as a complication of GPI. 
Case Presentation：Herein we report a 6-year-old child admitted by no pain abnormal gait in both lower extremities for 3 years, the patient received genetic inspection and radiology test. Full-exon detection and Sanger sequencing verification has performed on the children and their parents C. 553T>A homozygous missense mutation (NM_ 001289790, F 185 I) was found in exon 6 of GPI gene, which was inherited from parents.Radiology test shows avascular necrosis of bilateral femoral head. The patient received traction and wear spica splint in every night and non-weight bearing hip joint rehabilitation in every day for 6 months, after 6 months following, the gait of the femoral head of this patient improved significantly and the movement range of hip remained in a good level. 
Conclusion： Careful investigation of GPI children with abnormal gait is recommended to avoid misdiagnosis, GPI combine with avascular necrosis of the femoral head should be considered a differential diagnosis in GPI child with abnormal gait.