VEPTR (Vertical Expandible Prosthetic Titanium Rib) Treatment for Jeune Syndrome

Introduction

Jeune syndrome, or asphyxiating thoracic dystrophy (ATD), is a multisystem autosomal recessive condition affecting infants and children, characterized by skeletal dysplasia and progressive renal disease, variable hepatic fibrosis, pancreatic, and retinal abnormalities. The typical clinical finding includes a long, narrow, “bell shaped” thorax and short, horizontal ribs with irregular costochondral junctions.

Other typical radiographic features are long, metaphyseal irregularities, short long bones involving predominately the lower extremities, abnormalities of the clavicles (“bicycle handlebar shape”), a pelvic pathology with small ilia, irregularities of the acetabulum (“trident shape”) as well as cone-shaped epiphyses of the hands [1]. Futhermore, polydactyly of both hands and/or feet has been reported.

The phenotype of Jeune syndrome shows a wide variability, and cases can be classified into lethal, severe, mild, and latent forms [1]. In the perinatal period most children are severely affected and die from asphyxia caused by lung hypoplasia due to a small thoracic cage. The 20% of children with ATD surviving beyond the neonatal period suffer from thoracic insufficiency syndrome (TIS) which leads to progressive respiratory restrictive disease, pulmonary hypertension, right ventricular failure, cor pulmonale, and death.

The aim of treatment is to preserve thoracic function, volume and diaphragm function. Although different medical and surgical options have been described in selected cases, most provide a static solution incapable of responding to the growth demands of thriving patients.

A surgical approach to TIS using Vertical Expandable Prosthetic Titanium Rib (VEPTR) implantation was described by Dr. Robert Campbell in 1989 [2]. This device is composed of a sliding sleeve held in place by a removable locking clip, allowing expansion of the sliding sleeve and keeping pace with natural thoracic growth. This report describes our initial experience with this device in a child with Jeune syndrome.

References

• 1 Oberklaid F, Danks DM, Mayne V. et al . Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.  Arch Dis Child. 1977;  52 758-765
• 2 Campbell Jr RM, Smith MD, Mayes TC. et al . The effect of opening wedge thoracostomy on thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis.  J Bone Joint Surg Am. 2004;  86 1659-1674
• 3 Campbell Jr RM, Smith MD, Hell-Vocke AK. Expansion thoracoplasty: the surgical technique of opening-wedge thoracostomy.  Surgical technique. J Bone Joint Surg Am. 2004;  86 (S 01) 51-64
• 4 Thurlbeck WM. Postnatal human lung growth.  Thorax. 1982;  37 564-571
• 5 Todd DW, Tinguely SJ, Norberg WJ. A thoracic expansion technique for Jeune's asphyxiating thoracic dystrophy.  J Pediatr Surg. 1986;  21 161-163
• 6 Weber TR, Kurkchubasche AG. Operative management of asphyxiating thoracic dystrophy after pectus repair.  J Pediatr Surg. 1998;  33 262-265
• 7 Barnes ND, Hull D, Milner AD. et al . Chest reconstruction in thoracic dystrophy.  Arch Dis Child. 1971;  46 833-837
• 8 Aronson DC, Van Nierop JC, Taminiau A. et al . Homologous bone graft for expansion thoracoplasty in Jeune's asphyxiating thoracic dystrophy.  J Pediatr Surg. 1999;  34 500-503
• 9 Sharoni E, Erez E, Chorev G. et al . Chest reconstruction in asphyxiating thoracic dystrophy.  J Pediatr Surg. 1998;  33 1578-1581
• 10 Kaddoura IL, Obeid MY, Mroueh SM. et al . Dynamic thoracoplasty for asphyxiating thoracic dystrophy.  Ann Thorac Surg. 2001;  72 1755-1758
• 11 Davis JT, Heistein JB, Castile RG. et al . Lateral thoracic expansion for Jeune's syndrome: midterm results.  Ann Thorac Surg. 2001;  72 872-877
• 12 Campbell Jr RM, Smith MD, Mayes TC. et al . The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis.  J Bone Joint Surg Am. 2003;  85 399-408
• 13 Emans JB, Caubet JF, Ordonez CL. et al . The treatment of spine and chest wall deformities with fused ribs by expansion thoracostomy and insertion of vertical expandable prosthetic titanium rib: growth of thoracic spine and improvement of lung volumes.  Spine. 2005;  30 58-68
• 14 Campbell Jr RM. Spine deformities in rare congenital syndromes: clinical issues.  Spine (Phila Pa 1976). 2009;  34 1815-1827
• 15 Campbell Jr RM, Hell-Vocke AK. Growth of the thoracic spine in congenital scoliosis after expansion thoracoplasty.  J Bone Joint Surg Am. 2003;  85 409-420
• 16 Waldhausen JH, Redding GJ, Song KM. Vertical expandable prosthetic titanium rib for thoracic insufficiency syndrome: a new method to treat an old problem.  J Pediatr Surg. 2007;  42 76-80
• 17 Betz RR, Mulcahey MJ, Ramirez N. et al . Mortality and life-threatening events after vertical expandable prosthetic titanium rib surgery in children with hypoplastic chest wall deformity.  J Pediatr Orthop. 2008;  28 850-853

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