Extracorporeal membrane oxygenation support in individuals with thoracic insufficiency.

INTRODUCTION: Respiratory failure is the leading cause of mortality in individuals with congenital spine and rib deformities. We present a case report of a child with Jeune syndrome surviving respiratory failure using extracorporeal membrane oxygenation (ECMO). We also summarize thoracic insufficiency syndrome cases reported in the Extracorporeal Life Support Organization (ELSO) registry. CASE REPORT: A two-year-old male with a chest circumference less than a third percentile for age was admitted with influenza pneumonia developing a peak oxygenation index of 103.5. The child survived to baseline pulmonary function after nine days of venous-arterial ECMO support. DISCUSSION: The ELSO registry contained 27 individuals with a surrogate diagnosis of thoracic insufficiency (0.05%). There was no significant difference in survival to discharge for thoracic insufficiency patients (52%) compared to a previously healthy population supported with ECMO. CONCLUSION: ECMO is safe and may be effective in supporting individuals with thoracic insufficiency.

Anesthetic Management of a Child With Jeune Syndrome for Tracheotomy: A Case Report.

Jeune syndrome is a rare autosomal-recessive skeletal disorder. Anesthetic management of these patients is often difficult because of thoracic and lung hypoplasia. A 5-month-old boy with Jeune syndrome was scheduled to undergo a tracheotomy. Despite 5-minute preoxygenation with continuous positive airway pressure, the patient's oxygen saturation rapidly dropped during the induction of anesthesia. The continuous positive airway pressure should have been titrated to effective tidal volume during preoxygenation to recruit the patient's functional residual capacity and to prevent desaturation. During tracheotomy, volume-controlled ventilation with a high respiratory rate and sufficient inspiratory time effectively improved the patient's respiratory status.

Effective Neurally Adjusted Ventilatory Assist (NAVA) Ventilation in a Child With Jeune Syndrome.

Jeune syndrome (asphyxiating thoracic dystrophy) is a rare skeletal dysplasia mainly characterized by dystrophy of the thoracic cage. Neurally adjusted ventilatory assist (NAVA) is a respiratory support in which pressure assistance is provided in proportion to and synchronous with the electrical activity of the diaphragm. We present the case of a 4-month-old infant with asphyxiating thoracic dystrophy and respiratory failure successfully ventilated with NAVA. In this case, NAVA improved patient-ventilator synchrony, reducing endotracheal secretion and gastric overdistention. The reduction of breathing effort and the improvement in enteral feeding tolerance and weight gain made the patient eligible for thoracic surgical correction.

Forma letal de distrofia torácica asfixiante (Síndrome de Jeune): a propósito de un caso / Lethal asphyxtiating thoracic dystrophy (Jeune Syndrome): a case report

The asphyxiating thoracic dystrophy (ATD) is an autosomal recessive genetic disease, with wide clinical variability, from minimum to lethal phenotypes. Respiratory failure is due to pulmonary hypoplasia and narrow ribcage. Its frequency is 1/130000 newborns.The aim is to present a clinical case of the lethal form of ATD, emphasizing in pulmonary respiratory failure, poor prognosis and associated diseases.

La Distrofia Torácica Asfixiante (DTA) es una enfermedad genética autosómica recesiva, con amplia variabilidad clínica. La forma letal se debe a insuficiencia respiratoria secundaria a hipoplasia pulmonar y estrechamiento de la caja torácica. Su frecuencia es de 1/130000 recién nacidos vivos. El objetivo es presentar un caso clínico de la forma letal de DTA, enfatizando en el mal pronóstico de la falla respiratoria y la patología asociada.

Distraction osteogenesis of the sternum for thoracic expansion in a severe case of jeune syndrome: a preliminary report.

Severe asphyxiating thoracic dystrophy (Jeune syndrome) is usually fatal. The authors used distraction osteogenesis in a severe case and achieved 45 mm distraction of the sternum and improvement in tidal volume, lung compliance, and mean airway pressure.

Thoracic Insufficiency Syndrome.

Thoracic insufficiency syndrome (TIS) is a broad grouping of disorders that have a substantial impact on the chest wall, spine, and in many situations, both. While the conditions are varied, they share a potentially substantial impact on respiratory capacity and development over time and a presentation and need for intervention that is often in early childhood. Addressing these conditions has required a new paradigm that involves both deformity correction and a preservation of growth capacity. While there are now a number of options to treat severe spinal deformity early in life, when the deformity causes or is caused by a chest wall deformity, the Vertical Expandable Prosthetic Titanium Rib(VEPTR) is able to support surgical correction of both. The skeletal correction is often quite dramatic, but the functional measurements of quality of life and pulmonary function often do not show as dramatic and improvement, but consistently show a stabilization indicating control of the progressive thoracospinal disorder that produced TIS.

Chest wall hypoplasia--principles and treatment.

The chest is a dynamic structure. For normal movement it relies on a coordinated movement of the multiple bones, joints and muscles of the respiratory system. While muscle weakness can have clear impact on respiration by decreasing respiratory motion, so can conditions that cause chest wall hypoplasia and produce an immobile chest wall. These conditions, such as Jarcho-Levin and Jeune syndrome, present significantly different challenges than those faced with early onset scoliosis in which chest wall mechanics and thoracic volume may be much closer to normal. Because of this difference more aggressive approaches to clinical and surgical management are necessary.

Lateral thoracic expansion in a preterm baby with asphyxiating thoracic dystrophy.

Lateral thoracic expansion is a surgical technique which consists of increasing the diameter of the thoracic rib cage by the division of ribs and underlying tissue in a staggered fashion. To our knowledge, this procedure has not yet been described in preterm babies. We report a case of a 32-week preterm baby who was initially treated sequentially with resection of the costal cartilages and sternal spreading with the interposition of cartilage grafts, followed by left and right lateral thoracic expansion. The patient survived for 4 months after birth, showing that this procedure can be performed at any age after delivery.

Ellis-van Creveld syndrome.

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.

Ellis-van Creveld syndrome: craniofacial morphology and multidisciplinary treatment.

OBJECTIVE: The craniofacial morphology and multidisciplinary treatment of a patient with Ellis-van Creveld Syndrome are presented. PATIENT: The patient presented is female. Her treatment began at the age of 10 years 6 months. She exhibited small stature with acromelic shortening of the extremities, postaxial syndactyly, and dysplastic nails. In the oral region, hyperplastic frena, absent anterior teeth, and small barrel-shaped teeth were noted. SETTING AND INTERVENTION: The patient was treated at the University Hospital, Faculty of Dentistry, of the Tokyo Medical and Dental University. The treatment was divided into three stages: growth observation during which the patient wore acrylic plates with artificial anterior teeth; surgical-orthodontic treatment with sagittal split ramus osteotomy; and prosthodontic treatment with removable partial dentures. MAIN OUTCOME MEASURES: Cephalometric analyses were performed to evaluate the changes in craniofacial morphology with growth during treatment. RESULTS: Characteristic craniofacial morphology included a small posterior cranial base, small maxilla, and a large mandible with an increased gonial angle. Maxillo-mandibular relation was skeletal class III, and skeletal open bite was found. The skeletal class III relationship was progressive with growth. The patient was satisfied by the results of the multidisciplinary treatment. CONCLUSION: The craniofacial morphology of the patient demonstrated disturbed growth of the cartilage bones. An acceptable result was obtained through combined surgical-orthodontic-prosthodontic treatment.