title: Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria.
abstract: Mevalonic aciduria because of mutations of the gene for mevalonate kinase causes limited synthesis of isoprenoids, the effects of which are widespread. The outcome for affected children is poor. A child with severe multisystem manifestations underwent orthotopic liver transplantation at age 50 months for the indication of end-stage liver disease. This procedure corrected liver function and eliminated portal hypertension, and the patient showed substantial improvement in neurological function. However, autoinflammatory episodes continued unabated until hematopoietic stem cell transplantation was performed at 80 months. Through this complex therapy, the patient now enjoys a high quality of life without significant disability.
authors.affiliation: Department of Pediatrics, Feinberg Medical School of Northwestern University, Chicago, IL, USA. schaudhury@childrensmemorial.org
authors.forename: S
authors.initials: S
authors.lastname: Chaudhury
authors.forename: L
authors.initials: L
authors.lastname: Hormaza
authors.forename: S
authors.initials: S
authors.lastname: Mohammad
authors.forename: J
authors.initials: J
authors.lastname: Lokar
authors.forename: U
authors.initials: U
authors.lastname: Ekong
authors.forename: E M
authors.initials: EM
authors.lastname: Alonso
authors.forename: M S
authors.initials: MS
authors.lastname: Wainwright
authors.forename: M
authors.initials: M
authors.lastname: Kletzel
authors.forename: P F
authors.initials: PF
authors.lastname: Whitington
mesh_terms: D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007231:Infant, Newborn; D016031:Liver Transplantation; D008279:Magnetic Resonance Imaging; D054078:Mevalonate Kinase Deficiency / Q000473:pathology / Q000601:surgery*; D014184:Transplantation, Homologous