Outcomes of Spinal Deformity Treatment in Asphyxiating Thoracic Dystrophy

BACKGROUND: Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a rare skeletal dysplasia marked by a severe hypoplastic chest wall and restrictive lung disease, leading to an often-lethal thoracic insufficiency syndrome. Early-onset scoliosis (EOS) can complicate ATD, but details of operative management remain limited. This study aims to analyze the peri- and postoperative course of children with ATD who underwent posterior spinal fusion (PSF). METHODS: A retrospective review was conducted for all patients with ATD treated for EOS who underwent PSF at our institution. Preoperative spinal deformity at the time of definitive fusion and prior growth-friendly procedures were assessed. Intra- and postoperative data, including instrumentation levels, operative time, estimated blood loss, hospital and ICU stay, and complications, were collected and analyzed descriptively. RESULTS: Six patients met inclusion criteria. Five had previous expansion thoracoplasties with VEPTR instrumentation; median age at first surgery was 9 months. Median age at scoliosis onset and PSF was 35 months and 14 years, respectively. Median preoperative major coronal curve was 60 degrees. The sagittal profile ranged from severe lordosis to hyperkyphotic. Three patients had VEPTR instrumentation at the time of PSF. The most common upper instrumented vertebra was T2, and the lowest instrumented level ranged from T12 to L4. Median estimated blood loss was 500 mL with 175 mL of autologous blood salvage. Two patients required intraoperative blood transfusions. Median intensive care unit and total hospitalization were 4 and 6 days, respectively. Using the modified Clavien-Dindo-Sink classification system, 1 patient had a grade 0, 1 had a grade I, and 1 had a grade IIIb complication due to an emergency bronchoscopy. CONCLUSIONS: ATD is well-known for resulting in thoracic insufficiency syndrome due to a volumetric decrease of the thoracic cage. This series indicates that ATD is not unlike other pediatric non-idiopathic scoliosis undergoing PSF. Despite the pulmonary complexity and history of multiple prior thoracic cage procedures, ATD patients can and should safely undergo spinal deformity correction if indicated. LEVELS OF EVIDENCE: Level IV.