Colon transit time and anorectal manometry in children and young adults with spina bifida.

PURPOSE: This study evaluates colon transit time (CTT) and anorectal manometry (ARM) in spina bifida (SB) patients in relation to the level of lesion, mobility, constipation, and continence status. METHODS: SB patients between 6 and 19 years, who are not using antegrade continence enemas and followed at the SB Reference Centre UZ Ghent, were asked to participate. Medical history was retrospectively retrieved from the medical file. Stool habits were prospectively collected using standardized questionnaires. CTT was measured using the 6-day pellet abdominal X-ray method. ARM was performed in non-sedated children with a water-perfused, latex-free catheter. RESULTS: Forty out of 52 eligible patients consented to perform CTT, of which 19 also performed the ARM. Fifteen (37 %) SB patients were constipated despite treatment. Twenty-six (65 %) were (pseudo) continent. The total CTT was significantly prolonged in SB patients (median CTT 86.4 vs. 36 h controls). The CTT was significantly prolonged in constipated SB patients compared to non-constipated SB patients (122.4 vs. 52.8 h). Spontaneously continent patients had a normal CTT (33.6 h) as well as a significantly higher resting pressure compared to the pseudo-continent and incontinent SB patients (resting pressure 56.5 vs. 32.5 mmHg). An abnormal CTT was associated with a treatment necessity to achieve pseudo-continence (p = 0.006). CONCLUSION: CTT in SB patients was significantly prolonged, indicating a neurogenic involvement of the bowel and slow transit constipation. SB patients with a normal CTT and a normal ARM spontaneously achieved fecal continence. CTT can help tailor the continence therapy in SB patients.

Colon transit time in healthy children and adolescents.

PURPOSE: The aims of this study are to describe normal colon transit time (CTT) in healthy children, correlate results with age, the Bristol stool scale, and stool frequency, and to evaluate intra- and interobserver variability. METHODS: Inclusion criteria were as follows: healthy children between 3 and 18 years old with a normal defecation pattern, no history of abdominal surgery, and no medication use. Total and segmental CTT is measured by taking ten polythene radiopaque markers during six consecutive days followed by a single abdominal X-ray on day 7. Total and segmental CTT are calculated by multiplying the number of markers by 2.4 (Abrahamsson et al. Scand J Gastroenterol 32:72-80, 1988). RESULTS: Fifty-four children and adolescents have participated: 30 boys and 24 girls (median age 10 years (3-18 years)). Median total CTT is 36 h (<2.4-86.4 h). There is no significant difference for age category (toddlers 31.2 h (<2.4-74.4 h), elementary school 36 h (2.4-79.2 h), and adolescents 43.2 h (14.4-86.4 h)). Segmental CTT reveals a median right colon CTT of 4.8 h (0-28.8 h); a median left colon CTT of 2.4 h (0-31.2 h); and a median rectosigmoidal CTT of 24 h (0-64.8 h). The Bristol stool scale correlates with total CTT (p = 0.031). The intra- and interobserver variability displays an ICC of 0.999 for the total CTT. CONCLUSION: The CTT of normal healthy children is not sex- or age-related (above the age of 3 years). The Abrahamson method for CTT measurement by using bony landmarks for the determination of colon segments is easy to perform and well tolerated with a virtual inexistent rating difference between different observers.

[Colon transit time in children and young adults with open spinal dysraphism]. / Temps du transit colique chez l'enfant atteint de dysraphisme ouvert.

INTRODUCTION: Patients with open spinal dysraphism (OSD) frequently present constipation and incontinence requiring treatment. AIM: Evaluation of colon transit time (CTT) in patients with OSD, in relation to neural lesion, mobility, bowel habits, and continence status. METHODS: OSD patients aged between 6 and 20 years, who did not use antegrade enemas, were invited to participate in the study. Data from the medical file and information retrieved by questionnaires for constipation and incontinence were collected. The control group consisted of 13 healthy age-matched children. CTT was measured using the 6-day pellet method with an abdominal X-ray on day 7. Laxatives were continued and retrograde colon enemas were stopped 48h prior the X-ray. RESULTS: Thirty of the 33 patients who met the inclusion criteria agreed to participate. Twelve (40%) patients were constipated (Rome III criteria) despite treatment. Fifteen (50%) were continent, with or without treatment. Total CTT was significantly longer in OSD patients (median CTT: 86.4h vs. 43.2h controls). Constipated OSD patients had a significantly prolonged CTT compared to non-constipated patients (CTT: 125.4h vs. 51.6h). Spontaneous continent OSD patients had a normal CTT (CTT: 33.6h). An abnormal CTT predicted the necessity of treatment to achieve continence (P<0.006). CONCLUSION: CTT in OSD patients is significantly prolonged, indicating a neurogenic involvement of the bowel and a slow transit constipation. An abnormal CTT predicts the necessity of therapy to achieve fecal continence.

Acute pancreatitis complicated with choledochal duct rupture.

Recurrent acute pancreatitis is a rare clinical entity in childhood with unknown incidence (Rosendahl et al., 2007) and often occurring in a familial context. Genetic factors such as PRSS1 mutations (cationic trypsinogen gene) can be found in some patients. However, many remain idiopathic. The natural history remains poorly documented and the most frequent complications reported are pain, exocrine pancreatic insufficiency, diabetes mellitus, and pancreatic adenocarcinoma after long-standing hereditary pancreatitis. We describe a patient with hereditary pancreatitis in whom a mild pancreatitis episode was complicated by a perforation of the ductus choledochus.

Aminoacylase I deficiency: a novel inborn error of metabolism.

This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated amino acids were detected by gas chromatography-mass spectrometry in the urine, including the derivatives of serine, glutamic acid, alanine, methionine, glycine, and smaller amounts of threonine, leucine, valine, and isoleucine. NMR spectroscopy confirmed these findings and, in addition, showed the presence of N-acetylglutamine and N-acetylasparagine. In EBV transformed lymphoblasts, aminoacylase I activity was deficient. Loss of activity was due to decreased amounts of aminoacylase I protein. The amount of mRNA for the aminoacylase I was decreased. DNA sequencing of the encoding ACY1 gene showed a homozygous c.1057 C>T transition, predicting a p.Arg353Cys substitution. Both parents were heterozygous for the mutation. The mutation was also detected in 5/161 controls. To exclude the possibility of a genetic polymorphism, protein expression studies were performed showing that the mutant protein had lost catalytic activity.

Value of MR cholangiography in the evaluation of postoperative biliary complications following orthotopic liver transplantation.

The aim of this study was to describe the spectrum of abnormal biliary findings as seen with magnetic resonance cholangiography (MRC) in symptomatic patients after orthotopic liver transplantation (OLT). In our study we included 12 consecutive patients post-OLT who presented with clinical and/or biochemical suspicion of biliary complications. In all patients MRC was performed on a 1.0-T whole-body magnet and breathhold half-Fourier acquired single-shot turbo spin echo and rapid acquisition with relaxation enhancement sequences were used. Diagnostic confirmation was obtained with percutaneous transhepatic cholangiography (PTC; n = 3 patients), endoscopic retrograde cholangiography (ERC; n = 3 patients), or clinical follow-up. A vast array of biliary abnormalities were detected in 11 of 12 patients: high-grade, obstructive, anastomotic stricture was the most common unique abnormality. Findings consistent with bile duct necrosis, the second most common abnormality, were accompanied by arterial abnormalities in 2 of 5 patients on subsequent MR- and digital subtraction angiography. Compared with the findings obtained with direct cholangiography (n = 5 patients), MRC was highly accurate for the detection and characterization of postoperative biliary complications. Compared with the final diagnosis, which was based on PTC-ERC findings and/or all available clinical data, MRC imaging alone was able to provide a specific diagnosis in 9 of 12 patients. Magnetic resonance cholangiography is an accurate, time-saving, and non-invasive imaging modality in the evaluation of post-OLT patients in whom suspicion of biliary complications exists. Although the precise value of MRA in this patient group requires larger dedicated studies, single session "all-in-one" MR evaluation of both biliary and arterial system in our series proved to be a substantial benefit in obtaining an accurate and complete diagnosis.