Michele Torre

Poland syndrome with bilateral features: Case description with review of the literature†

Poland syndrome (PS) has been described as unilateral pectoral muscle deficiency variably associated with ipsilateral thoracic and upper limb anomalies. Bilateral hypoplasia/aplasia of the pectoralis muscle and upper limb defects in association with variable thoracic muscles, chest wall deformities and lower limb defects have been infrequently reported in the literature. We report on a 3½‐year‐old girl with clinical features consisting in bilateral asymmetric pectoral muscle defects (complete agenesis on the left side and agenesis of the sternocostal head on the right side), nipple hypoplasia, left rib defect, and right hand symbrachydactyly. In this study, we reviewed the bilateral features present in our patient and those described in the literature. Hypotheses explaining bilateral features in PS are reviewed.

A New Morphologic Classification of Congenital Tracheobronchial Stenosis

BACKGROUNDnCongenital tracheal stenoses are rare and life-threatening anomalies, associated with considerable variation in both morphology and prognosis. They have been classified previously according to the length of the stenosis or the severity of the symptoms, but not according to bronchial involvement.nnnMETHODSnData from patients who underwent slide tracheoplasty for long-segment (>50%) congenital tracheal stenosis were collected. We identified four different types of bronchial arborization (normal, n=52; tracheal right upper lobe bronchus, n=10; carina with trifurcation, n=14; and unilateral bronchial and lung agenesis, n=8). Each type included congenital tracheal (above the carina) or tracheobronchial (extending below the carina) stenosis.nnnRESULTSnEighty-four children were enrolled in the study. Preoperative ventilation was necessary in 44 patients (52.4%; 75% in patients with a single lung), and preoperative extracorporeal membrane oxygenation was needed in 10 patients (11.9%). Preoperative tracheostomy was present in 3 patients initially treated elsewhere (3.5%), and a left pulmonary artery sling was performed in 44% (37 of 84). The overall mortality was 13% (11 of 84), 7.9% in patients with tracheal stenosis and 28.6% with tracheobronchial stenosis. No deaths occurred in patients with right upper lobe bronchus anatomy. Endoscopic procedures after slide tracheoplasty were required in 34 patients (40.4%). Stents were placed in 18 patients (21.4%), with a higher incidence in those with bronchial trifurcation (42.8%, 6 of 12).nnnCONCLUSIONSnThis classification appears useful for the morphologic characterization of congenital airway stenosis and could be the benchmark for future prospective studies on the outcome of these patients.

Aortopexy for the treatment of tracheomalacia in children: review of the literature

Severe tracheomalacia presents a significant challenge for Paediatricians, Intensivists, Respiratory Physicians, Otolaryngologists and Paediatric Surgeons. The treatment of tracheomacia remains controversial, but aortopexy is considered by most to be one of the best options. We conducted a review of the English literature relating to aortopexy.Among 125 papers, 40 have been included in this review. Among 758 patients (62% males) affected with tracheomalacia, 581 underwent aortopexy. Associated co-morbidities were reported in 659 patients. The most frequent association was with oesophageal atresia (44%), vascular ring or large vessel anomalies (18%) and innominate artery compression (16%); in 9% tracheomalacia was idiopathic. The symptoms reported were various, but the most important indication for aortopexy was an acute life-threatening event (ALTE), observed in 43% of patients. The main preoperative investigation was bronchoscopy. Surgical approach was through a left anterior thoracotomy in 72% of patients, while median approach was chosen in 14% and in 1.3% a thoracoscopic aortopexy was performed. At follow-up (median 47 months) more than 80% of the patients improved significantly, but 8% showed no improvement, 4% had a worsening of their symptoms and 6% died. Complications were observed in 15% of patients, in 1% a redo aortopexy was deemed necessary.In our review, we found a lack of general consensus about symptom description and evaluation, indications for surgery, though ALTE and bronchoscopy were considered by all an absolute indication to aortopexy and the gold standard for the diagnosis of tracheomalacia, respectively. Differences were reported also in surgical approaches and technical details, so that the same term “aortopexy” was used to describe different types of procedures. Whatever approach or technique was used, the efficacy of aortopexy was reported as high in the majority of cases (more than 80%). A subgroup of patients particularly delicate is represented by those with associated gastro-esophageal reflux, in whom a fundoplication should be performed. Other treatments of tracheomalacia, particularly tracheal stenting, were associated with a higher rate of failure, severe morbidity and mortality.Non english abstractLa tracheomalacia severa rappresenta una sfida per Pediatri, Intensivisti, Pneumologi, Otorinolaringoiatri, Chirurghi Pediatri. Il trattamento della tracheomalacia è tuttora controverso. L’aortopessi è considerata da molti la migliore opzione terapeutica. Abbiamo condotto una revisione della letteratura di lingua inglese su tale argomento.Di 125 lavori, 40 sono stati inclusi nella revisione. Tra 758 pazienti (62% maschi) affetti da tracheomalacia, 581 sono stati sottoposti ad aortopessi tra il 1968 e il 2008. In 659 pazienti alcune comorbidità erano presenti. L’associazione più frequente era con l’atresia esofagea (44%), l’anello vascolare o un’anomalia dei grossi vasi (18%), la compressione da parte dell’arteria innominata (16%); nel 9% la tracheomalacia era idiopatica. I sintomi riportati sono stati variabili, ma l’indicazione più importante all’aortopessi sono stati eventi di ALTE, osservati nel 43% dei pazienti. Lo studio diagnostico preoperatorio principale è stato la broncoscopia. L’approccio chirurgico è avvenuto attraverso una toracotomia anteriore sinistra nel 72% dei pazienti, mentre un approccio mediano è stato scelto nel 14% e nell’1.3% dei casi è stato eseguito un approccio toracoscopico. Al follow-up (mediana di 47 mesi) la maggioranza dei pazienti sono migliorati significativamente, ma l’8% di essi non è migliorato, il 4% è peggiorato e il 6% è morto. Complicazioni sono state riportate nel 15% dei pazienti, nell’1% un nuovo intervento di aortopessi è stato necessario.In questa revisione abbiamo trovato che non c’è un consenso generale sulla valutazione e sulla descrizione dei sintomi, sulle indicazioni chirurgiche ed esami preoperatori, anche se le ALTE e la broncoscopia venivano considerate rispettivamente un’indicazione assoluta all’aortopessi e il “gold standard” diagnostico per la tracheomalacia. Venivano riportate differenze negli approcci chirurgici e nei dettagli tecnici, e lo stesso termine di aortopessi veniva usato per indicare diverse procedure chirurgiche. In ogni caso, indipendentemente dall’approccio o tecnica utilizzati, l’efficacia dell’aortopessi veniva riportata come elevata nella maggioranza dei casi (più dell’80%). Un sottogruppo di pazienti particolarmente delicato è rappresentato da quelli con reflusso gastroesofageo associato, nei quali sarebbe indicata una fundoplicatio. Altri trattamenti della tracheomalacia, quali stent tracheale, sembrano gravati da una maggiore percentuale di insuccessi, morbidità severa e mortalità.

Risk factors for renal function impairment in a series of 502 patients born with spinal dysraphisms

OBJECTIVEnTo evaluate the risk of renal damage in a large series of patients affected by spinal dysraphism.nnnMETHODSnRenal function was studied in 502 spinal dysraphisms treated over the last 25 years in a single center: 283 meningomyelocele (MMC), 90 caudal regression syndrome (CRS) and 129 spinal lipoma (SL) cases. In patients with normal and impaired renal function, we compared congenital renal anomalies, vesicoureteric reflux, bladder voiding pattern and upper tract dilatation, analyzing the results with the Fisher test.nnnRESULTSnNeuropathic bladder was observed in 97% of MMC, 60% of CRS, and 39% of SL cases. There was some degree of renal function impairment in 19 MMC (6.7%), 11 CRS (12%, increased to 20% if considering only neuropathic bladder patients), and two SL (1.5%) cases. Renal agenesis was more frequent in CRS (13%), but was not associated with decreased renal function. Overall, vesicoureteric reflux and upper tract dilatation were more frequent in patients with renal damage. Insufficient bladder voiding was statistically associated with renal damage only in the CRS population. Intermittent catheterization did not represent a protective factor against renal damage in patients able to void without significant residual urine.nnnCONCLUSIONnThis study has increased our understanding of the prognostic risk factors for renal deterioration. More prospective studies are necessary to confirm these results and correlate treatment with renal outcome.

Surgical outcome of slide tracheoplasty in patients with long congenital segment tracheal stenosis and single lung

OBJECTIVEnThe aim of the study is to assess the surgical outcome of slide tracheoplasty in patients with congenital tracheal stenosis and single lung.nnnMETHODSnPre, intra- and postoperative data were collected. Anatomy and associated anomalies were described.nnnRESULTSnSeven patients (median age 5 months; range 39 days-1 year) with single lung underwent slide tracheoplasty. Single right lung was present in four patients. Associated anomalies were present in four patients (56%) including vascular ring, left pulmonary artery (LPA) sling, VACTERL (abnormalities of the vertebrae, anus, cardiovascular tree, trachea, oesophagus, renal system, and limb buds) syndrome, atrial septal defect (ASD) and aberrant left subclavian artery. Six patients (85%) needed preoperative ventilation and two (28%) needed preoperative extracorporeal membrane oxygenation (ECMO). Median postoperative ventilation was 7 days (6-35 days). Two patients needed postoperative ECMO, one of whom required preoperative ECMO. Complications occurred in five patients (71%): reintubation due to pneumothorax, pneumonia and several tracheal dilatations due to recurrent tracheal stenosis, which was eventually stented. There was one hospital death in a patient, who could not be weaned off ECMO due to severe distal malacia. At a median follow-up of 16 months (7 days-7 years), all survivors are in good clinical condition and without additional stenting.nnnCONCLUSIONnSlide tracheoplasty can be performed in patients with single lung and tracheal stenosis with a good surgical outcome.

Lipoblastoma with unique localization requiring tracheal and esophageal resection

Lipoblastoma and lipoblastomatosis are rare tumors of infancy. They originate from embryonic fat and localize in soft tissues. We present the case of a lipoblastoma of the neck with localization in tracheal and esophageal walls that required an extended laryngotracheal and esophageal resection. To our knowledge, this is the first report of such localization of this tumor.

Thymectomy to achieve primary closure of total sternal cleft

Total sternal cleft is a rare congenital malformation that may represent a challenge for the surgeon. In neonatal period, the primary closure is usually achievable, but at older age, this can be impossible. Moreover, the closure of the 2 sternal bars can bring to an exaggerated compression on mediastinal structures. Many different techniques for the treatment of sternal clefts have been reported in literature. We describe one case of total sternal cleft repaired at 4 months of age in which a partial thymectomy was performed to achieve the primary closure. We suggest considering this simple procedure in selected patients to reduce the risk of mediastinal compression.

Congenital absence of cartilaginous tracheal rings associated with esophageal atresia and trifurcated carina: a novel anomaly?

Tracheomalacia associated with esophageal atresia (EA) is a well-known condition. However, complete absence of tracheal rings (TRs) is extremely rare. Our aim is to describe a novel triad of conditions and to discuss the best treatment. An expremature male operated for EA presented with severe respiratory distress. The diagnosis of absent cartilage rings, suspected on bronchoscopy, was confirmed by optical coherence tomography. The absence of TRs was localized to a short tracheal segment, and the carina trifurcated into right upper lobe, right intermediate, and left main bronchus. The patient was treated with resection and anastomosis with a completely satisfactory course. Absence of TRs was previously reported by us in 2 other cases, both with associated EA and trifurcation of the carina. One child was treated with tracheostomy and the other with a stent, but the outcome was far from optimal. The patient with tracheostomy eventually underwent resection and anastomosis with tracheostomy closure. Congenital absence of TRs is extremely rare. Although localized, it is responsible for severe symptoms owing to complete tracheal collapse and may be misdiagnosed as tracheomalacia. In our experience, it has been associated with EA and trifurcated carina. Our limited experience suggests resection of the abnormal segment and tracheal anastomosis as the best treatment.

Granular cell tumor mimicking a subglottic hemangioma

Pediatric airway tumors are uncommon. A 4-year-old girl with history of stridor since the first year of life underwent rigid laryngotracheal endoscopy revealing a left posterolateral subglottic mass occluding 80% of lumen. Complete tumor resection by open approach was undertaken. Histopathologic and immunohistochemical studies revealed granular cells tumor. The similarity of the clinical and endoscopic presentation of this tumor to the much more frequent subglottic hemangioma that usually requires a different therapeutic approach was of interest. Granular cell tumor must be considered in the differential diagnosis of upper airway obstructive symptoms in infancy and childhood.

Pectus excavatum repair after sternotomy: the Chest Wall International Group experience with substernal Nuss bars

OBJECTIVES Patients with pectus excavatum (PE) after prior sternotomy for cardiac surgery present unique challenges for repair of PE. Open repairs have been recommended because of concerns about sternal adhesions and cardiac injury. We report a multi‐institutional experience with repair utilizing substernal Nuss bars in this patient population. METHODS Surgeons from the Chest Wall International Group were queried for experience and retrospective data on PE repair using sub‐sternal Nuss bars in patients with a history of median sternotomy for cardiac surgery (November 2000 to August 2015). A descriptive analysis was performed. RESULTS Data for 75 patients were available from 14 centres. The median age at PE repair was 9.5 years (interquartile range 10.9), and the median Haller index was 3.9 (interquartile range 1.43); 56% of the patients were men. The median time to PE repair was 6.4 years (interquartile range 7.886) after prior cardiac surgery. Twelve patients (16%) required resternotomy before support bar placement: 7 pre‐emptively and 5 emergently. Sternal elevation before bar placement was used in 34 patients (45%) and thoracoscopy in 67 patients (89%). Standby with cardiopulmonary bypass was available at 9 centres (64%). Inadvertent cardiac injury occurred in 5 cases (7%) without mortality. CONCLUSIONS Over a broad range of institutions, substernal Nuss bars were used in PE repair for patients with a history of sternotomy for cardiac surgery. Several technique modifications were reported and may have facilitated repair. Cardiac injury occurred in 7% of cases, and appropriate resources should be available in the event of complications. Prophylactic resternotomy was reported at a minority of centres.