A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

Abstract Background This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency, that now has an FDA approved treatm...

Full description

Bibliographic Details
Main Authors: Tiziana Coppola, Bradford Becken, Heather Van Mater, Marie Theresa McDonald, Gabriela Maradiaga Panayotti
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Pediatrics
Subjects:
Periodic fever syndrome
Mevalonate kinase deficiency
HyperIgD syndrome
Mevalonic aciduria
Inflammation
Arthralgias
Online Access:http://link.springer.com/article/10.1186/s12887-019-1617-1

Internet

http://link.springer.com/article/10.1186/s12887-019-1617-1

Similar Items