title: Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination.
abstract: Spondyloenchondromatosis (SEM) is a rare skeletal dysplasia which presents with multiple enchondromata in the metaphyses of the long bones associated with dysplastic vertebral bodies. It is probably heterogeneous. We have investigated and documented a male infant in South Africa with spondyloenchondromatosis and persistent D-2-hydroxyglutaric aciduria (D2HA). D2HA is a neurometabolic disorder whose enzymatic basis is still undefined. A girl in England with a similar clinical, radiological and biochemical phenotype has previously been reported by Talkhani et al. [(2000). Skel Radiol 7:215-2921]. There is at present a lack of a plausible pathogenetic relationship between the two components of the disorder but a contiguous gene syndrome or a pleiotropic gene could be considered. Whatever the underlying mechanism this case report confirms its nosological entity.
authors.affiliation: Department of Genetics, University of Pretoria, South Africa. ehoney@medic.up.ac.za
authors.forename: E M
authors.initials: EM
authors.lastname: Honey
authors.forename: M
authors.initials: M
authors.lastname: van Rensburg
authors.forename: D P
authors.initials: DP
authors.lastname: Knoll
authors.forename: L J
authors.initials: LJ
authors.lastname: Mienie
authors.forename: I
authors.initials: I
authors.lastname: van de Werke
authors.forename: P
authors.initials: P
authors.lastname: Beighton
mesh_terms: D001132:Arm / Q000002:abnormalities* / Q000000981:diagnostic imaging; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D004687:Enchondromatosis / Q000503:physiopathology*; D005977:Glutarates / Q000378:metabolism* / Q000652:urine; D006801:Humans; D007223:Infant; D007866:Leg / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008159:Lumbar Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D012540:Scapula / Q000002:abnormalities / Q000000981:diagnostic imaging
chemical_list: D005977:Glutarates; C035736:glutaric acid