Study Design. Case reports are presented.
Objective. To report the association between carbohydrate-deficient glycoprotein syndrome Type 1a (CDGS Type 1a) and spinal deformity.
Summary of Background Data. 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.