Vitamine B12 deficiency in children: a diagnostic challenge.

Cobalamin or vitamin B12 (vitB12) is involved in DNA synthesis, haematopoiesis and myelinisation. Consequently, vitB12 deficiency causes various symptoms, such as megaloblastic anaemia, neurologic signs or pancytopenia. Despite possible severe symptoms, vitB12 deficiency can present asymptomatically. We report six paediatric patients with different aetiologies of vitB12 deficiency ranging from a subtle to a more overt presentation. VitB12 deficiency is a diagnostic challenge due to the lack of consensus on normal values of vitB12 and its co-markers (folate, holotranscobalamin, methylmalonic acid, homocysteine) and the lack in specificity and sensitivity of the serum vitB12 analysis. All cases were treated with parenteral vitB12. Last decades, evidence supporting high dose oral treatment being as effective as the intramuscular (IM) therapy, also in children, is growing.

Constipation and fecal incontinence in children with cerebral palsy. Overview of literature and flowchart for a stepwise approach.

BACKGROUND AND STUDY AIMS: Constipation and fecal incontinence are common problems in neurologically impaired children. This paper aims to give an overview on bowel problems in cerebral palsy children and to suggest a stepwise treatment approach. A pubmed search was performed looking at studies during the past 20 years investigating bowel problems in neurologically disabled children. RESULTS: The search revealed 15 articles. Prevalence and presentation was the subject of 8 papers, confirming the importance of the problem in these children. The other papers studied the results of different treatment modalities. No significant differences between treatment modalities could be demonstrated due to small studied cohorts. Therefore, no specific treatment strategy is currently available. An experienced based stepwise approach is proposed starting with normalization of fiber intake. The evaluation of the colon transit time could help in deciding whether desimpaction and eventually laxatives including both osmotic (lactulose, macrogol) as well as stimulant laxatives might be indicated. Or, in case of fast transit loperamide or psyllium can be tried. Surgery should be a last resort option. CONCLUSION: Studies investigating constipation and continence in neurologically impaired children are scarce, making it difficult to choose for the optimal treatment. A stepwise treatment approach is proposed, measuring the colon transit time to guide treatment choices.

[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.

Colon enemas for fecal incontinence in patients with spina bifida.

PURPOSE: We studied the use of colon enemas in achieving fecal pseudocontinence in patients with spina bifida to define the variables associated with success. MATERIALS AND METHODS: Questionnaires were individually filled out by all patients with spina bifida using colon enemas at our Spina Bifida Reference Center between October 2009 and June 2010. Patient age, type of enema, volume required, evacuation time, followup, continence and independence were recorded. Fecal pseudocontinence was defined as no involuntary stool loss during the last 6 months. Social continence was defined as involuntary stool loss less than once monthly. Children are routinely seen at the reference center, while adults are seen on request. RESULTS: A total of 25 children and 15 adults with spina bifida were studied. Median volume required was 1 liter (range 0.5 to 2) in children and 1.5 liters (0.75 to 3) in adults. Median evacuation time was 30 minutes (range 15 to 60) in children and 60 minutes (30 to 120) in adults. Fecal continence was achieved in 76% of children (19 of 25) and 60% of adults (9 of 15), and social continence in 88% of children (23 of 25) and 67% of adults (10 of 15). A significant relation was found between medical followup since childhood and fecal pseudocontinence. No enema determinants predicted pseudocontinence. CONCLUSIONS: Colon enemas are a valuable method in achieving continence. At our center medical followup from childhood to adulthood is associated with successful acquisition of fecal pseudocontinence.