Thoracic insufficiency syndrome: Approaches to assessment and management

Abstract

Thoracic insufficiency syndrome (TIS) was described in 2003 as the inability of the thorax to support normal respiration or lung growth. TIS includes a broad and disparate group of typically degenerative thoracospinal conditions. Although TIS arises due to a heterogeneous group of disorders and thus its incidence is not well quantified, general approaches to management and treatment exist. Evolving imaging techniques and measurements of health-related quality of life augment tests of pulmonary function to quantify disease burden, longitudinally and pre- and post-intervention. Intervention is primarily via growth-sparing surgery, for which several device options exist, to preserve vertical growth prior to a definitive spinal fusion at skeletal maturity.

Keywords: Jarcho-Levin syndrome; Jeune syndrome; Restrictive lung disease; Thoracic insufficiency syndrome.

Fig. 1.

Types of thoracic volume-depletion as classified by Campbell and Smith. (A) Type I, absent ribs and scoliosis (this patient had agenesis of the left-sided ribs of most of the upper vertebral bodies, as well as rib fusion at T1-T4, and of the 8^th, 9^th, and 10^th ribs proximally), (B) Type II, fused ribs and scoliosis, (C) Jarcho-Levin syndrome, (D) Jeune syndrome, also called asphyxiating thoracic dystrophy. (Dr. Katharine Tsukahara, all rights retained)

Fig. 2.

Examples of growth-friendly surgical intervention. (A,B) Traditional growing rods. (C,D) MAGnetic Expansion Control (MAGEC) growing rods with lateral rib supports. (Dr. Katharine Tsukahara, all rights retained)