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BACKGROUND: This report describes a unique case of long-term survival of a young girl who was diagnosed with severe, rapidly progressive lysosomal acid lipase deficiency (LAL-D; historically “Wolman disease”) at three months of age and began receiving therapeutic interventions at four months of age. This disease involves rapidly progressive multisystemic impairments and limited survival (6–12 months) without treatment. METHODS: Case report taking into account clinical aspects and patient management including a semi-structured interview with the main family caregiver. RESULTS: Presentation at two months of age: severe malnutrition and chronic diarrhea; hypoalbuminemia; low iron, vitamin A, and vitamin D levels; high triglyceride levels; profound anemia; thrombocytopenia; adrenal calcifications; and mild hepatosplenomegaly. Enzyme replacement therapy (ERT) with sebelipase alfa, parenteral nutrition, and a low-fat diet began at age four months. The patient has received sebelipase alfa for >5 years with good tolerability and is thriving, with a body mass index of 16.35 kg/m2 (80th percentile) despite a stature delay (height

To describe short- (first year of age) and long-term (after 1 year of age) outcome in patients with esophageal atresia and identify early predictive factors of morbidity in the first month of life.Charts of children with esophageal atresia born January 1990 to May 2005 were reviewed. A complicated evolution was defined as the occurrence of at least 1 complication: severe gastroesophageal reflux, esophageal stricture requiring dilatations, recurrent fistula needing surgery, need for gavage feeding foror=3 months, severe tracheomalacia, chronic respiratory disease, and death.A total of 134 patients were included. Forty-nine percent of patients had a complicated evolution before 1 year of age, and 54% had a complicated evolution after 1 year. With bivariate analysis, predictive variables of a complicated evolution were demonstrated, including twin birth, preoperative tracheal intubation, birth weight2500 g, long gap atresia, anastomotic leak, postoperative tracheal intubationor=5 days, and inability to be fed orally by the end of the first month. After 1 year of age, the complicated evolution was only associated with long gap atresia and inability to be fed orally in the first month. A hospital stayor=30 days was associated with a risk of a complicated evolution at 1 year and after 1 year of age (odds ratio, 9.3 [95% CI, 4.1-20.8] and 3.5 [95% CI, 1.6-7.6], respectively).Early factors are predictive of morbidity in children with esophageal atresia.

Background: Abdominal pain related to irritable bowel syndrome (IBS) and functional abdominal pain (FAP) is frequent in children and can be of variable severity. Both IBS and FAPare associatedwithrectalhypersensitivity.We hypothesized thatinchildrenwithIBSandFAP,therectalsensorythresholdfor pain (RSTP) is associated with symptom severity. Paitents and Methods: A total of 47 patients (34 girls; median age, 14.2 years) with IBS (n ¼29) and FAP (n ¼18), according to the Rome II criteria, underwent a rectal barostat examination to determine their RSTP. Gastrointestinal symptom severitywas assessed by validated questionnaires. During the rectal barostat exam, symptoms were documented using a visual analog scale and by measuring the area coloured on a human body diagram corresponding to painful sensations. Results: The median RSTP was 16mmHg and was similar in IBS and FAP patients. Eighty-three percent of the patients had rectal hypersensitivity (RSTP � 30.8mmHg, the 5th percentile of control children studied in our laboratory). Fifty-one percent and 36%, respectively, reported missing school and social activities at least once per week. Increased frequency of pain, missed days of school, missed social activities, and pain during the barostat examination were not associated with lower RSTP values in either the whole group or in the subset of children with rectal hypersensitivity. Conclusions: Rectal hypersensitivity is not proportional to the severity of symptoms in children with IBS and FAP, indicating thatsymptomseverityisinfluencedbyotherfactorsinadditionto visceralhypersensitivity.JPGN46:272–278,2008.KeyWords: Children—Functional abdominal pain—Irritable bowel syndrome—Rectal barostat—Rome II criteria—Visceral sensitivity. # 2008 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition

International audience; The pacemaking activity of specialized tissues in the heart and gut results in lifelong rhythmic contractions. Here we describe a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome, in 16 French Canadians and 1 Swede. We show that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome. Cultured dermal fibroblasts from affected individuals showed accelerated cell cycle progression, a higher rate of senescence and enhanced activation of TGF-b signaling. Karyotypes showed the typical railroad appearance of a centromeric cohesion defect. Tissues derived from affected individuals displayed pathological changes in both the enteric nervous system and smooth muscle. Morpholino-induced knockdown of sgol1 in zebrafish recapitulated the abnormalities seen in humans with CAID syndrome. Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.

A 16-year-old girl was referred by her paediatrician for evaluation of persistent microcytic anemia. Two years previously, she presented to her local hospital complaining of fatigue and weakness. At that point, her hemoglobin level was 46 g/L, with a low mean corpuscular volume and decreased iron and ferritin levels. She had no evidence of gastrointestinal bleeding and was otherwise healthy. Furthermore, she reported a regular menstruation cycle without increase in blood loss. She received a blood transfusion and was started on iron supplements, to which she had a good response as her hemoglobin level rose up to 129 g/L. Her clinical symptoms also resolved and iron supplementation was discontinued one year later. However, on follow-up, her hemoglobin level dropped to 85 g/L. Again, her iron stores were considerably low. A hemoglobin electrophoresis was normal. She still had no history of overt bleeding, but one of three fecal occult blood tests was positive. She was then evaluated in our centre. The physical examination was unremarkable apart from a small hemangioma of the tongue. Both upper endoscopy and colonoscopy showed no source of bleeding. A small bowel follow-through was normal. Further investigations revealed the diagnosis.

Purpose The purpose of was to study the short- and long-term outcomes in the management of isolated esophageal atresia with different operative strategies. Methods All patients undergoing type A atresia repair over a 15-year period were included. Demographic data, birth weight, gestational age, incidence of associated anomalies, management, and long-term outcomes were studied. Results Fifteen patients with type A atresia (9 male) were treated in the study period. The mean gestational age was 35.5 weeks (range, 27-39 weeks), and the mean birth weight was 2179 g (range, 670-3520 g). Eight babies had associated anomalies. Thirteen patients underwent gastrostomy as the initial procedure, and 2 underwent the Foker procedure. In the delayed management group, 9 patients underwent primary anastomosis, with 2 patients needing proximal pouch myotomy. Two patients underwent a Collis gastroplasty. Two patients underwent a cervical esophagostomy and a gastric tube replacement at 4 months and 1 year, respectively. Eight patients (60%) in this group had anastomotic leaks. All patients are currently on prokinetics and proton pump inhibitors. Seven required antireflux surgery. The median length of hospital admission was 4 months (range, 3-19 months). The native esophagus was preserved in 13 (85%) of 15 babies. All patients are alive, and 14 of 15 are capable of feeding orally. Conclusions Type A esophageal atresia continues to be associated with significant morbidity despite advances in surgical technique and intensive care.

BACKGROUND: Late complications of esophageal atresia (EA), particularly esophagitis and Barrett’s esophagus, are increasingly being recognized. With the exception of patients with dysphagia associated with esophageal stricture, it is unknown whether patient symptomatology can predict endoscopic findings.METHODS: Data regarding the digestive symptoms of patients who were referred to the EA multidisciplinary clinic from October 2005 to October 2008, and underwent upper gastrointestinal endoscopic evaluation, were systematically collected. Macroscopic and histological findings were analyzed. Endoscopy was considered normal if no esophagitis, intestinal metaplasia or gastric metaplasia (GM) was discerned.RESULTS: Sixty-three patients underwent endoscopy. Eighteen had dysphagia related to an esophageal stricture needing dilation and were subsequently excluded from the analysis. Forty-five patients (26 girls) with a median age of 7.3 years (range 0.4 to 17.9 years) were evaluated. Twenty-six patients (58%) were normal at endoscopy, 14 patients (31%) had esophagitis and 16 patients (36%) had GM. No intestinal metaplasia or adenocarcinoma was detected. Six patients with abnormal endoscopy results were asymptomatic. No correlation between digestive symptoms and endoscopy results was found.CONCLUSION: The present cross-sectional study showed that symptomatology was not predictive of abnormal endoscopy in EA patients. Esophagitis or GM may be discovered, even in the absence of symptoms, suggesting that physicians cannot rely solely on symptomatology to accurately evaluate the extent of these esophageal complications in this population.