Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details

Abstract

Introduction Jeune's syndrome, or asphyxiating thoracic dystrophy (ATD), is a rare autosomal recessive disorder characterized by skeletal dysplasia. Ribs are typically short and horizontal resulting—in lethal variant—in severe lung hypoplasia, progressive respiratory failure, and death. Lateral thoracic expansion (LTE) consists in staggered bilateral ribs osteotomy leading to chest expansion and lung development. Studies on LTE in ATD patients report encouraging data, but the rarity of ATD implies the lack of a standardized surgical path. The aim of this report is to present our experience with LTE, the technical modification we adopted, and patients' clinical outcome. Materials and Methods We retrospectively reviewed data of 11 LTE performed in 7 ATD patients with lethal variant. Information regarding pre- and postoperative clinical conditions and surgical details was collected. We adopted a single-stage or a two-stage approach based on patient clinical condition. Computed tomography (CT) scan was performed before and after surgery and lung volume was calculated. Results Five patients are alive, while two died in intensive care unit for other than respiratory cause (sepsis). Most patients experienced clinical improvement in terms of decreased respiratory infections rate, need for ventilation, and improved exercise tolerance. Postoperative CT scan demonstrated a median lung volume increase of 88%. Conclusion Mortality in ADT patients is high. However, LTE is a feasible and safe surgical approach, which could improve clinical conditions and survival rate. Survived patients showed postoperatively less oxygen requirement and improved clinical conditions.

Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques

“…This group may be subdivided according to the direction of the expansion into two subgroups: IIa with lateral thoracic expansion, first proposed in 1995 by Davis et al (17), and IIb with vertical thoracic expansion, described in 2004 by Campbell et al (22). Both the lateral and vertical thoracic expansions are the most reported techniques for JS correction (2,17,18,(20)(21)(22)(23)(24)(25)(26).…”

“…Several techniques have been proposed for the surgical management of patients with symptomatic JS, aiming to increase pulmonary expansion. Some require a median sternotomy (7)(8)(9)(10)(11)(12)(13)(14)(15)(16), while others are based on thoracotomy and thoracic expansion [lateral thoracic expansion (2,(17)(18)(19)(20)(21), vertical thoracic expansion (22)(23)(24)(25)(26), and others based on sternal/rib elevation (27)(28)(29)].…”

“…Described for the first time in 1954, Jeune syndrome (JS), often called asphyxiating thoracic dystrophy, is a congenital musculoskeletal disease marked by short ribs, a narrow thorax, and small limbs ( 1 ). Patients may also have non-skeletal-associated anomalies, such as impaired renal function, liver fibrosis, pancreatic cysts, and retinal anomalies ( 2 , 3 ). The syndrome is exceedingly rare, with an estimated incidence of 1 per 100,000/130,000 live births ( 2 , 3 ), and has a genetic basis.…”

“…Patients may also have non-skeletal-associated anomalies, such as impaired renal function, liver fibrosis, pancreatic cysts, and retinal anomalies ( 2 , 3 ). The syndrome is exceedingly rare, with an estimated incidence of 1 per 100,000/130,000 live births ( 2 , 3 ), and has a genetic basis. Moreover, JS is considered an autosomal recessive ciliopathy with a variable degree of clinical expression.…”

“…Highly symptomatic patients experience severe lung hypoplasia, pulmonary hypertension, and restrictive respiratory insufficiency. Importantly, the respiratory status is evolving and progressive, with a rapid deterioration of lung function, which typically ends in demise during the first few months ( 2 ). A considerable risk of respiratory deterioration during follow-up exists even for children with mild or intermediate forms at diagnosis, who typically acquire recurrent lung infections ( 3 ).…”