Development of Nerve Fibre Diameter in Young Infants With Hirschsprung Disease.

OBJECTIVES: Finding thickened nerve fibres is one of the key elements in the diagnosis of Hirschsprung disease (HD); however, its value at different ages remains uncertain. Nerve fibre diameters <40 µm can be observed in infants younger than 8 weeks, despite the presence of HD. The aim of this study was to identify a change in maximum nerve fibre diameter in HD patients, measured before and after 8 weeks of age. METHODS: Nerve fibre diameter was retrospectively evaluated in tissue of 20 infants treated for definite HD. Rectal suction biopsies (RSBs) obtained within the first 8 weeks of life (T1) and resected bowel obtained during primary surgery at an average of 24.7 weeks (T2), were assessed. The 2 thickest nerve fibre diameter recordings at T1 and T2 were compared in each subject, to examine changes in nerve trunk diameter with increasing age. RESULTS: In 13 cases (65%), nerve fibre diameters were ≥40 µm at T1 and T2. Six subjects (30%) had nerve trunk diameters <40 µm at T1; however, they experienced diameter increases to ≥40 µm by T2. Thus, at T2, 19 subjects (95%) had diameter recordings ≥40 µm. Nerve fibre diameter in the remaining case (5%) stayed consistent at <40 µm at T1 and T2, despite the presence of HD. CONCLUSIONS: After the first 8 weeks of life, nerve fibre measurements appear to be associated with HD. Measuring the 2 thickest nerve fibres can support typical HD diagnosis criteria beyond 8 weeks of age, but is not superior to histopathological confirmation of aganglionosis.

Clinical outcome of cloacal exstrophy, current status, and a change in surgical management.

INTRODUCTION: Cloacal exstrophy is a complex and rare congenital malformation. Because of improvements in medicine, operative techniques, and perioperative management the survival rates are now approaching 100%. Currently, treatment is focused on improving quality of life. Since 1974, we encountered 20 patients with cloacal exstrophy in our hospital. The aim of this study is to evaluate our clinical experience and outcome during the last 39 years. PATIENTS AND METHODS: A retrospective study of the medical records was performed. We evaluated anatomical status, phenotype and genotype at birth, subsequent surgical treatment and current gastrointestinal, urinary, spinal, genital, and gender status and outcome. RESULTS: The records of all 20 patients who were treated in our center were included in this study. Of the 20 patients, 18 were primary patients, 2 referred. Six patients died within the first year of life. Median age of the surviving 14 patients was 25 years (range, 4-39 years) at time of evaluation. At the last follow-up, 11 patients had an endileostomy or endcolostomy. Three patients had a pull-through; two of them were continent for feces. Two patients were continent for urine; one with a sinus urogenitalis and one after urethra reconstruction. Eleven patients are incontinent; six of them had an incontinent urinary deviation (Bricker deviation). Of the other five incontinent patients, two had a urethral reconstruction, one vesicovaginal anastomosis, one perineotomy, and one epispadias bladder. Urinary continence was unknown in one patient. Of the surviving patients, nine have 46 XY karyotype and five 46 XX karyotype. Initially, six XY patients underwent external genital reconstruction with reassignment to female gender; however, one died postoperatively. One declared to feel like a man at age of 15 years. Remaining four XY patients underwent male external genital reconstruction. All XX patients underwent vagina or vulva reconstruction, except for one who still has aplasia vaginae. All patients were born with varying types of spinal dysraphism. DISCUSSION: Despite medical efforts and development in treatment and support, satisfaction in outcome of cloacal exstrophy remains a challenge. Although reconstruction may be very difficult, male genital reconstruction in 46 XY patients has been given preference for more than a decade. A specialized multidisciplinary team should provide lifelong colorectal, urological, sexual, and psychosocial support to these patients, taking into account their age and phase of life.

Predictive value of nerve trunk size in the neonate.

PURPOSE: The diagnosis of Hirschsprung's disease (HD) remains challenging. The identification of ganglion cells is difficult and acetycholine esterase (AChE) staining can be subject to a great variability, particularly in the neonatal period (<8 weeks). Nerve trunks greater than 40 µm are considered to be predictive for HD. The aim of this study was to evaluate the usefulness of measuring nerve trunk size in the newborn with HD. METHODS: Out of 292 biopsies 69 could be reanalyzed by three independent researchers. 40 µm was used as cutoff point for nerve trunk size. They were subdivided into three groups: (a) diagnosis of HD certain at the first biopsy, (b) no HD and (c) diagnosis of HD remains doubtful and re-biopsy taken. RESULTS: In 87 % of group A nerve trunk size was ≥ 40 µm (SD 13.8). In 84 % of group B trunk size was < 40 µm (SD 16.2). In group C only 60 % of the patients showed a positive correlation between final diagnosis and nerve trunk size. CONCLUSION: Using 40 µm as the cutoff point gave 13 % false-negative and 16 % false-positive cases. Measurement of the nerve trunk in the neonatal period does not seem to be a reliable method for detecting HD.