Eur J Pediatr Surg 2011; 21(2): 138-140
DOI: 10.1055/s-0030-1267222
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© Georg Thieme Verlag KG Stuttgart · New York

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

M. Lacher1 , H.-G. Dietz1
  • 1Ludwig-Maximilians-University, Department of Pediatric Surgery, Munich, Germany
Further Information

Publication History

Publication Date:
04 November 2010 (online)

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

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Correspondence

Dr. med. Martin Lacher

University of Munich, Pediatric Surgery

Dr. von Haunersches Kinderspital

80337 Munich

Germany

Phone: +49 89 5160 2811

Fax: +49 89 5160 7815

Email: martin.lacher@lmu.de

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