title: Whole-body MRI in the childhood form of hypophosphatasia.
abstract: Hypophosphatasia (HPP) is a rare inborn error of bone metabolism caused by various defects in the gene coding for the tissue-nonspecific alkaline phosphatase (TNSAP). It results in a reduced activity of the TNSAP and elevated concentrations of its substrates, including inorganic pyrophosphate. Clinical features of HPP include defective bone mineralisation with bone deformities, fractures and chronic non-bacterial osteomyelitis. Renal damage due to calcification, craniosynostosis and dental abnormalities with premature loss of dentition are further complications. Until now, detailed descriptions of whole-body magnetic resonance imaging (WB-MRI) in HPP do not exist. Here, we analysed WB-MRIs of 4 children with the childhood form of HPP. Deformities and defects of the long bones could be seen. All patients showed radiological lesions in the metaphyses of the long bones predominantly in the lower extremities being consistent with hyperaemia and oedema. Differential diagnosis includes an inflammatory process being active in these locations.
authors.affiliation: Section of Pediatric Rheumatology, Osteology, Immunology and Infectious Diseases, Children's Hospital, University of Würzburg, Josef-Schneider-Strasse 2, 97080, Würzburg, Germany. beck_c@kinderklinik.uni-wuerzburg.de
authors.forename: C
authors.initials: C
authors.lastname: Beck
authors.forename: H
authors.initials: H
authors.lastname: Morbach
authors.forename: C
authors.initials: C
authors.lastname: Wirth
authors.forename: M
authors.initials: M
authors.lastname: Beer
authors.forename: H J
authors.initials: HJ
authors.lastname: Girschick
mesh_terms: D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D010019:Osteomyelitis / Q000175:diagnosis / Q000473:pathology; D051598:Whole Body Imaging / Q000379:methods*
references.citation: Ann Rheum Dis. 1989 Jul;48(7):571-6
references.pmid: 2549888
references.citation: J Immunol. 2005 Apr 15;174(8):5016-23
references.pmid: 15814732
references.citation: Pediatr Radiol. 1976 Dec 15;5(2):103-17
references.pmid: 1012798
references.citation: J Bone Miner Res. 2009 Aug;24(8):1493-505
references.pmid: 19335222
references.citation: Rheumatol Int. 2009 Jan;29(3):229-38
references.pmid: 18821074
references.citation: Childs Nerv Syst. 2009 Feb;25(2):217-23
references.pmid: 18769927
references.citation: BMC Pediatr. 2007 Jan 23;7:3
references.pmid: 17241478
references.citation: Ann Rheum Dis. 2005 Feb;64(2):279-85
references.pmid: 15647436
references.citation: Bone. 1999 Nov;25(5):603-7
references.pmid: 10574582
references.citation: Rofo. 2008 Mar;180(3):238-45
references.pmid: 18278731
references.citation: Bone. 1999 Sep;25(3):361-7
references.pmid: 10495141
references.citation: Klin Padiatr. 2009 Jul-Aug;221(4):219-26
references.pmid: 19629901
references.citation: Eur J Radiol. 2008 Nov;68(2):289-98
references.pmid: 18799279
references.citation: Orphanet J Rare Dis. 2007 Oct 04;2:40
references.pmid: 17916236
references.citation: J Immunol. 2002 May 15;168(10):5310-7
references.pmid: 11994489
references.citation: Nature. 2006 Mar 9;440(7081):228-32
references.pmid: 16407890
references.citation: Curr Opin Rheumatol. 2007 Mar;19(2):146-50
references.pmid: 17278929
references.citation: Orphanet J Rare Dis. 2006 Jun 28;1:24
references.pmid: 16803637