Surgical treatment of asphyxiating thoracic dysplasia (Jeune syndrome) / 中国胸心血管外科临床杂志

@#Objective    To summarize the experience of surgical treatment of asphyxiating thoracic dysplasia (Jeune syndrome). Methods    A total of 15 patients with asphyxiating thoracic dysplasia from August 2018 to April 2020 in our hospital were retrospectively included. There were 7 males and 8 females, aged 1-25 (8.87±6.71) years. Special steel bars were used to correct the growth direction of the rib and costal cartilage. Meanwhile, the concave and convex deformities of the chest wall on both sides were corrected to increase the chest volume and correct the thoracic deformity. Results    The contour appearance of the chest wall of all patients changed after the operation. The shape was close to normal, and the symptoms of hypoxia were improved. The operation time was 147.73±59.78 min, intraoperative bleeding volume was 105.67±91.90 mL, ICU stay time was 14.20±13.54 d and hospital stay time was 26.00±17.87 d. Eleven patients were directly extubated after the operation, 4 patients underwent tracheotomy and received assisted respiration, and the assisted respiration time was 19, 13, 22 and 12 days, respectively. The postoperative chest circumference was significantly increased, and the blood oxygen saturation was significantly improved. There were 5 patients with cardiac insufficiency, and 3 of them were improved by cardiotonic therapy, 2 of them died of heart failure on the 2nd and 31st day after the operation, respectively. Abdominal distention occurred in 10 patients after operation, and 5 of them were obstinate and eliminated by comprehensive treatment. All patients were followed up. The appearance of thorax was improved obviously and there was no sign of compression in lungs. One 13-year-old patient developed respiratory discomfort 3 months after the operation, and the symptoms were relieved after self-administration of oxygen. A 25-year-old patient developed cardiac insufficiency half a month after the discharge, and the symptoms disappeared after cardiotonic treatment. Four patients took out the steel bars in 13, 13, 15 and 17 months after the operation, respectively. The appearance of thorax remained well after the operation. The imaging examination showed that the position of bone structure was normal, the lung field was clear, and there was no sign of chronic inflammation. Conclusion    This technique is a safe and simple operation method. It can not only eliminate the deformity of chest wall, but also increase the volume of chest obviously. However, the long-term effect needs to be further evaluated.

Sindrome de Jeune: presentación de un caso clínico / Jeune syndrome: case report

El Síndrome de Jeune fue descrito en 1956 como Displasia Torácica Asfixiante (DTA). Su incidencia es de 1 por cada 100.000 recién nacidos vivos. En Venezuela el primer caso fue descrito por Urdaneta Carruyo en 1986. Forma parte de los síndromes con displasia/hipoplasia costal con/sin polidactilia. Es la insuficiencia respiratoria, por hipoplasia pulmonar, la causa más frecuente de muerte. En vista de ser un síndrome de presentación poco común con una alta mortalidad, se presenta un caso de una escolar de 11 años (diagnosticado desde los 10 meses), con tórax estrecho, braquimelia y rizomelia. Toracoplastia a los 9 años de edad en busca de una expansión torácica. Fallece a los 11 años de edad. Conclusiones: El síndrome de Jeune es una entidad poco frecuente que compromete la vida del paciente; tiene un patrón de herencia autosómica recesiva y requiere consejo genético a los padres y un equipo multidisciplinario para su abordaje y manejo.

Jeune Syndrome was described in 1956 as Thoracic dysplasia Asphyxiant (DTA). Its incidence is 1 per 100,000 live births. In Venezuela the first case was described by Urdaneta Carruyo in 1986. It is a member of the family of the short-rib polydactyly syndromes. Respiratory failure, secondary to pulmonary hypoplasia, it is the most common cause of death. Because DTA is a rare syndrome with a high mortality presentation, we were motivated to report the case of a 11 year old girl (diagnosed at 10 months of age), with a narrow thorax, and variable limb shortness. Thoracoplasty was performed at 9 years of age in order to achieve thoracic expansion. The patient died at 11 years of age. Conclusions: Jeune syndrome is a rare entity, which compromises the life of the patient; it has autosomal recessive inheritance pattern and requires genetic counseling to parents and a multidisciplinary management.

Evolución clínica, radiológica y auxológica a largo plazo de 8 niños con displasia torácica asfixiante / Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia

La displasia torácica asfixiante es una enfermedad infrecuente con compromiso multiorgánico y alta letalidad neonatal. Se presenta conbaja estatura, miembros cortos, tórax estrecho. Con la edad, hay mejoría respiratoria, pero aparición de compromiso renal, hepático, pancreático y/o retinal. Objetivo: Describir la evolución a largo plazo de 8 pacientes de un hospital de pediatría. Métodos: Se evaluaron retrospectivamente edad de diagnóstico, sexo, variables antropométricas, complicaciones y radiología. Resultados: Masculino/femenino, 6/2. Edad al momento del diagnóstico mediana: 2,54 años. Evolución: 8/8, compromiso respiratorio; 3/8, renal; 2/8, hepático; 1/8, oftalmológico; 1/8, cardíaco. Mediana de estatura al momento del diagnóstico: -1,76 DE; crecimiento posnatal y proporciones corporales, normales. Radiología: 8/8, tórax estrecho y braquifalangia en manos. 5/8, anomalías acetabulares. Discusión: Es recomendable un seguimiento para monitorear la función renal, hepática y ocular. El pediatra debería sospechar esta entidad ante un recién nacido con tórax estrecho y dificultad respiratoria.

Asphyxiating Thoracic Dysplasia is an uncommon condition with multiple organ afectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emergence of renal, hepatic, pancreatic and/or retinal impairment. Objective: to describe the long-term evolution of 8 patients of a pediatric hospital. Methods: we retrospectively evaluated age at diagnosis, sex, anthropometric variables, complications and radiology. Results: male/female 6/2. Median age at diagnosis: 2.54 years. Evolution: 8/8 respiratory compromise, 3/8 kidney, liver 2/8, 1/8 ophthalmologic, cardiac 1/8. Median height at diagnosis -1.76 DS, normal postnatal growth and body proportions. Radiology: 8/8 narrow chest and brachyphalangia in hands. 5/8 acetabular abnormalities. Discussion: for surveillance it is recommended to monitor renal, liver and eye function. The pediatrician should suspect this entity in a newborn with narrow thorax and respiratory distress.

Osteochondrodysplasia Pathologic study of 29 autopsy cases

Osteochondrodysplasia is a heterogeneous group of disorders appearing short limbed dwarfism. Because many of these entities are lethal and hereditary, an accurate diagnosis is mandatory. The purpose of this study is to define the clinicopathologic features and radiologic findings of osteochondrodysplasia. We reviewed 29 autopsy cases of congenital short limbed dwarfism, consisting of thanatophoric dysplasia (TD) (12 cases), osteogenesis imperfecta (OI) (12 cases), asphyxiating thoracic dysplasia (ATD) (3 cases), short-rib-polydactyly syndrome (SRPS) (1 case) and hypochondrogenesis (1 case). The gestational age ranged from 16 to 41 weeks. Of 6 fetuses that were born alive, 3 were ATD, 2 were TD and 1 was hypochondrogenesis. TD was frequently complicated by hydramnios. Of 8 cases studied chromosomally, only 1 showed chromosomal abnormality -46XY, inv 9. Intrauterine growth retardation was frequently associated with OI. Pulmonary hypoplasia was present in 23 cases (79%), including all cases of ATD, SRPS and hypochondrogenesis, 11 in TD and 7 in OI. Other associated anomalies were present in 17 cases (59%).