title: Pathological fracture and pyogenic osteomyelitis in a patient with type 2 Gaucher disease.
abstract: In Gaucher disease (GD), enzyme replacement therapy (ERT) results in the alleviation of hematological abnormalities and visceral infiltration as well as improvement in quality of life and life-span. However, several years may be required for skeletal manifestations, which are usually observed in type 1 and 3 GD, to respond to ERT. Infants with type 2 GD rarely present skeletal manifestations because most of these patients die within the first 2 years of life before they develop skeletal involvement. The use of ERT may prolong the lifespan of these patients and influence the natural history of the disease. The present study reports a new natural history of treated GD in which a 2-year and 7-month-old girl with type 2 GD who was receiving ERT developed valproate-induced Fanconi syndrome, pathological fractures, and pyogenic osteomyelitis. In conclusion, skeletal disease may occur in any type of GD, and Fanconi syndrome may lead to severe skeletal complications in patients with GD.
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga 524-0022, Japan. Electronic address: anri520@msn.com.
authors.forename: Anri
authors.initials: A
authors.lastname: Hayashi
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga 524-0022, Japan.
authors.forename: Rie
authors.initials: R
authors.lastname: Kawakita
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga 524-0022, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kumada
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga 524-0022, Japan.
authors.forename: Fumihito
authors.initials: F
authors.lastname: Nozaki
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga 524-0022, Japan.
authors.forename: Ikuko
authors.initials: I
authors.lastname: Hiejima
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga 524-0022, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Miyajima
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga 524-0022, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kusunoki
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga 524-0022, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Fujii
mesh_terms: D000927:Anticonvulsants / Q000009:adverse effects* / Q000627:therapeutic use; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D005198:Fanconi Syndrome / Q000139:chemically induced* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005269:Femur / Q000293:injuries / Q000473:pathology; D005598:Fractures, Spontaneous / Q000209:etiology* / Q000473:pathology; D005776:Gaucher Disease / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D010019:Osteomyelitis / Q000209:etiology* / Q000473:pathology; D014635:Valproic Acid / Q000009:adverse effects* / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D014635:Valproic Acid
keywords: Fanconi syndrome; Gaucher disease; Pathological fracture; Pyogenic osteomyelitis