Outcomes of Children with Jarcho-Levin Syndrome treated with a Vertebral Expandable Prosthetic Titanium Rib (VEPTR) Frances A. Farley, MD, Michelle C. Burke, MS, Michelle S. Caird, MD, Matthew D. Abbott, MD, Ying Li, MD C.S. Mott Children’s Hospital, University of Michigan, Ann Arbor, MI

Disclosures My co-authors and I have nothing to disclose.

Background Jarcho-Levin Syndrome (JLS) is a rare genetic disorder in which the thoracic vertebrae and ribs have multiple abnormalities The children all have short stature and thoracic insufficiency syndrome The syndrome is often treated with a VEPTR device to expand the chest and control the scoliosis Jarcho-Levin Syndrome is divided into two types Spondylocostal dystrophy Spondylothoracic dysplasia

Purpose To compare outcomes of patients with Jarcho-Levin syndrome treated with a VEPTR device to other congenital scoliosis patients treated with a VEPTR

Methods Patients were prospectively enrolled into a Congenital Scoliosis database All patients had a VEPTR placed in early childhood. Comorbidities, pulmonary function tests (PFTs), Cobb angles, CT lung volumes, and SRS-22 outcomes data were collected over time

Results 9 patients (5 males and 4 females) with Jarcho-Levin syndrome were followed for 2 to 5 years. Comorbidities included torticollis (5), hernias (6), congenital heart disease (4), renal abnormalities (6), feeding issues treated with a gastrostomy tube (4), and developmental delay (3).

Results After VEPTR placement, average CT lung volumes increased significantly from 316 to 540 cc on the right (p=0.0008) and 300 to 475 cc on the left (p=0.01) over an average 4 year period in early to mid-childhood.

Results The FVC on PFTs increased from 830 to 970 cc throughout mid-childhood. The percent predicted normal FVC remained stable at 45% during this same time period.

Results Thoracic Cobb angle averaged 29 degrees preoperatively, which remained stable during VEPTR treatment.

Results The SRS-22 Total scores averaged 4.3 initially and increased significantly (p=0.03) to 4.6 at 3 to 5 year follow-up. Mean self-image scores increased from an average of 3.9 at baseline to 4.6 at follow-up (p=.003) Mean mental health pre-op to most recent follow-up was 4.11 to 4.57 (p=0.04).

Limitations Small sample size 2 patients excluded from analysis of SRS scores due to lacking a pre-operative survey measurement 1 patient excluded from Cobb angle analysis due to lack of pre-operative radiograph

Conclusion Children with JLS have a high prevalence of torticollis, hernias, feeding issues, and developmental delay, which has not been previously reported. VEPTR treatment results in an increase in lung volume in these children, while lung function remains stable over time.   Scoliosis remains mild and non-progressive throughout VEPTR treatment. Outcomes are comparable to children with congenital scoliosis treated with VEPTR.