Clinical significance of eosinophilia and chronic inflammatory infiltrate in children's rectal biopsies.

AIMS: The aim of the present study was to determine the clinical significance of an incidental finding of eosinophilia (EOS) and chronic inflammatory infiltrate (CINF) in rectal biopsies of children investigated for suspected Hirschsprung disease (HSCR). METHODS: A retrospective study (2000-2010) of children incidentally found to have EOS and CINF was performed. HSCR cases were excluded. Presence of gastrointestinal (GI) symptoms and nutritional status (weight-for-age z score) were investigated and compared with a matched cohort with normal biopsy. RESULTS: Of 364 children undergoing rectal biopsy for suspected HSCR, 109 had confirmed HSCR, whereas 255 children had normal ganglia. Forty-four of 255 (17%) children had EOS and/or CINF incidentally reported and are the subject of the present study. In 13 of 44 (29%) children, the biopsy was performed neonatally. At follow-up (4.6 months [1-22]), 21 (48%) had food and/or milk allergy, 30 (68%) had constipation and/or other GI symptoms. There was no change in weight-for-age z score (P = 0.85) at follow-up and 8 (20%) had failure to thrive. Only 10 of 44 (P = 0.0001 vs patients with EOS and/or CINF) children with normal biopsy had persistent constipation at follow-up (9.7 months [0.5-84.7]) and 1 patient had atopy. Patients with normal biopsy exhibited an increase in weight-for-age z score at follow-up (P = 0.003) and only 3 patients (7%) had failure to thrive. CONCLUSIONS: EOS and CINF are found in 17% of children who had rectal biopsies negative for HSCR. Half of these children will need further medical input for the presence of persisting GI symptoms, food/milk allergy and failure to thrive, and the possibility to develop inflammatory bowel disease later in life.

Mosaic trisomy 22 associated with total colonic aganglionosis and malrotation.

AIMS: Abnormalities of chromosome 22 karyotype have been reported to be associated with both malrotation and aganglionosis. However, although malrotation has been reported to occur in the rare mosaic trisomy 22, Hirschsprung's disease has not. We present a case of mosaic trisomy 22 that presented during the neonatal period with malrotation and total colonic aganglionosis, and we discuss the possible pathogenesis of both conditions in the light of this rare genetic abnormality. The association of total colonic aganglionosis and mosaic trisomy 22 has not previously been reported. RESULTS: A male neonate with an antenatal diagnosis of de novo mosaic trisomy 22 underwent a laparotomy with correction of malrotation and midgut volvulus on day 3 of life. Rectal biopsy was performed because he had not passed meconium. This revealed Hirschsprung's disease; an ileostomy was formed, and histology confirmed aganglionosis as far as the terminal ileum. At 6 months, a modified Lester Martin Duhamel pull-through was performed. He is showing normal development at follow-up. CONCLUSIONS: We recommend an increased index of suspicion of Hirschsprung's disease and malrotation in patients with mosaic trisomy 22 until further evidence can establish or exclude a meaningful relationship.

Congenital anomalies are commonly associated with exomphalos minor.

AIM: The objective of this study is to define the incidence of chromosomal and congenital anomalies in neonates with exomphalos major and minor. BACKGROUND: Incidence of major congenital anomalies varies from 35% to 81% in exomphalos. It is unclear whether these malformations are more common with exomphalos major. MATERIAL AND METHODS: The case notes of 82 antenatal diagnoses of exomphalos, made between January 1998 and December 2004, were retrospectively reviewed. Exomphalos major was defined as a defect 5 cm or greater and exomphalos minor a defect less than 5 cm in diameter. RESULTS: There were 72 live births, 6 still births, and 4 terminations of pregnancy. There was no statistical significance between exomphalos major and minor regarding mode of delivery, gestational age at birth, birth weight, major cardiac anomalies (21% vs 23%), and renal and external genitalia abnormalities (11% vs 18%). Chromosomal anomalies, syndromes, and dysmorphism were common in exomphalos minor 17 (39%, P = .0001). Congenital malformations of the gastrointestinal tract (14% vs 27%), central nervous system (0 vs 21%), and Wilms' tumor (0 vs 5%) occurred commonly in exomphalos minor. Limb abnormalities (25% vs 5%), ectopia cordis (11% vs 0), and bladder exstrophy (7% vs 0) occurred predominantly in exomphalos major. Mean follow-up was 34 months. Three neonates with exomphalos major died. Overall mortality was 4%. CONCLUSIONS: Chromosomal anomalies and syndromes occur more commonly in exomphalos minor. Exomphalos minor and major seem to have a predilection for associated anomalies of specific organ systems. This predisposition may help in counseling parents, planning investigations, and organization of multidisciplinary management strategy.