title: Spinal deformity associated with carbohydrate-deficient glycoprotein syndrome (Jaeken's syndrome): a report of three cases.
abstract: METHODS
  Case reports are presented.
  
  
  OBJECTIVE
  To report the association between carbohydrate-deficient glycoprotein syndrome Type 1a (CDGS Type 1a) and spinal deformity.
  
  
  BACKGROUND
  Carbohydrate-deficient glycoprotein syndrome Type 1a is an autosomal recessive metabolic disorder that may occur in association with spinal deformity.
  
  
  METHODS
  Analyses of three cases are presented, including a review of the natural history of the disease.
  
  
  RESULTS
  Three cases were reviewed in which spinal deformities developed in patients with CDGS Type 1a. Two patients required surgical correction of their spinal deformity, and one patient, at this writing, is undergoing conservative treatment. Before surgery, the pediatric hematology service was consulted regarding the patients' CDGD-related hypercoagulability. Of the two patients who underwent surgical correction, one had severe blood loss (7500 mL), and both cases were treated for infection via intravenous antibiotics.
  
  
  CONCLUSIONS
  The incidence of CDGS Type 1a is 1 in 80,0000. Spinal deformity appears to be common in patients with CDGS Type 1a. Therefore, young patients with spinal deformities in combination with mental retardation, failure to thrive, abnormal fat distribution, and other symptoms of CDGS Type 1a should be assessed for this disorder, and patients with CDGS Type 1a should be screened also for spinal deformities. If abnormalities are identified early, treatment outcomes may be optimized.
authors.affiliation: Division of Pediatric Orthopaedic Surgery, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio OH 45229-3039, USA. ctmehlman@post.harvard.edu
authors.forename: Charles T
authors.initials: CT
authors.lastname: Mehlman
authors.forename: Ahmad R
authors.initials: AR
authors.lastname: Nematbakhsh
authors.forename: Alvin H
authors.initials: AH
authors.lastname: Crawford
authors.forename: Richard E
authors.initials: RE
authors.lastname: Berlin
mesh_terms: D016063:Blood Loss, Surgical; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D005260:Female; D006801:Humans; D007738:Kyphosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery*; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000601:surgery; D008279:Magnetic Resonance Imaging; D011859:Radiography; D012600:Scoliosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery*; D013123:Spinal Fusion / Q000009:adverse effects; D013530:Surgical Wound Infection / Q000188:drug therapy; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging / Q000601:surgery