Intestinal Dysganglionoses (IDs) represent a heterogeneous group of Enteric Nervous System anomalies including Hirschsprung's disease (HD), Intestinal Neuronal Dysplasia (IND), Internal Anal Sphincter Neurogenic Achalasia (IASNA) and Hypoganglionosis. At present HD is the only recognised clinico-pathological entity, whereas the others are not yet worldwide accepted and diagnosed. This report describes the areas of agreement and disagreement regarding definition, diagnosis, and management of IDs as discussed at the workshop of the fourth International Meeting on "Hirschsprung's disease and related neurochristopathies." The gold standards in the preoperative diagnosis of IDs are described, enlighting the importance of rectal suction biopsy in the diagnostic workup. The most important diagnostic features of HD are the combination of hypertrophic nerve trunks and aganglionosis in adequate specimens. Acetylcholinesterase staining is the best diagnostic technique to demonstrate hypertrophic nerve trunks in lamina propia mucosae, but many pathologist from different centers still use H&E staining effectively. Moreover, the importance of an adequate intraoperative pathological evaluation of the extent of IDs to avoid postoperative complications is stressed. Although it is not clear whether IND is a separate entity or some sort of secondary acquired condition, it is concluded that both IND and IASNA do exist. Other interesting conclusions are provided as well as detailed results of the discussion. Further investigation is needed to resolve the many controversies concerning IDs. The fourth International Conference in Sestri Levante stimulated discussion regarding these entities and led to the International guidelines to serve the best interest of our patients.

No abstract

Sternal cleft is a chest wall malformation that can expose mediastinal viscera and vessels to injuries. It can be classified into two forms, complete and partial. Its etiology and incidence are unknown and it is often associated with other defects. The aim of this article is to review the literature and report our experience with this rare anomaly, focusing on clinical presentation and management. We reviewed the English written literature about sternal cleft and collected the clinical data of all the published series. We present seven new cases that we have observed and treated since 1999. Literature reports 51 series including 86 patients, more frequently female (62%) and affected with partial superior form (67%). Sternal cleft is often asymptomatic (74%) and associated with other defects (72%). Surgical treatments include primary closure (73%), bone graft interposition (10%), prosthetic closure (7%), and muscle flap interposition (3%). In our series, primary closure was possible in four cases, while in three cases we placed a prosthesis. Five patients had associated defects and two were affected with PHACES (posterior fossa abnormalities, hemangiomas, arterial lesions, cardiac abnormalities/aortic coarctation, abnormalities of the eye, and sternum defects) syndrome. We report for the first time the association of sternal cleft with connectival nevi in three of our patients. At follow-up, we observed no major complication or recurrences. Although primary closure is the preferred option and should be performed in the neonatal period, the use of prostheses warrants good results as well. Prior to treatment, associated defects and syndromes should be excluded.

No abstract