Late presenting diaphragmatic hernia: clinical and diagnostic aspects

Abstract

Background: The congenital diaphragm hernia presents most frequently in the neonatal period. In a small group of children his defect can be diagnosed beyond the newborn age, during late infancy or early childhood. The late presenting congenital diaphragm hernia is characterized by a variable clinical picture and represents a considerable diagnostic challenge. The aim of this study was to evaluate the usefulness of imaging methods in diagnosis, monitoring and management of late presenting diaphragmatic hernias.

Material/methods: The retrospective analysis of 58 children with congenital diaphragm hernia, aged from 1 day to 7.5 years (the average: 2.6 years) treated between 1990-2006 in the Department of Pediatric Surgery and Urology of the Medical University of Wroclaw was carried out. 19 (39%) children in whom the malformation was recognized beyond the newborn period were numbered to this group. The detailed analysis comprised the type of clinical manifestation, as well as the therapeutic and diagnostic algorithm.

Results: The postero-lateral variant of the defect was recognized in 15 children, the Morgagni type in 2 and the hiatal type in 2. Right-sided hernia was found in 4 children, whereas left-sided in 15. 8 infants with left hernia presented with dominant symptoms from the respiratory system; 3 infants - from the GI tract with delayed somatic growth. Among children over 1 year of age, 6 presented symptoms of respiratory origin and only 2 of gastrointestinal nature. Only one child showed associated congenital malformations. In all children the diagnosis was made on the basis of imaging modalities. The GI contrast study was decisive imaging method in 14 children, ultrasonography in 15, CT in 4.

Conclusions: The lack of typical clinical presentation in cases of late presenting CDH leads to delayed diagnosis of the defect. This clinical entity should be however taken into account in the differential diagnosis of children with respiratory distress and GI disturbances. The imaging studies are essentials in every case.