A rare case of abetalipoproteinemia

The disease studiedhere abetalipoproteinemia (ABL) is a very rare autosomal recessive disorder which is caused by microsomal triglyceride alteration in protein gene mutation. ABL is defined by a lack of lipids and apolipoprotein B in the plasma, as well as fat malabsorption and a variety of clinical symptoms. We report a 21-year-old male with a history of persistent diarrhea, steatorrhea, and growth retardation who was born to consanguineous parents. The patient was diagnosed with ABL and was treated with dietary changes and fat-soluble vitamin replacement, as well as being monitored on an outpatient basis.

Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease / 대한소아소화기영양학회지

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.

Clinical Profile and Outcome of Chronic Pancreatitis in Children.

Objective: To evaluate the etiology, presentation, complications and management of chronic pancreatitis in children. Design: Retrospective chart review. Setting: Gastroenterology department at Christian Medical College and Hospital, Vellore, India between January 2005 and December 2010. Participants: 99 Children (<18 yrs) diagnosed with chronic pancreatitis based on clinical and imaging features. Main outcome measures: Etiology, clinical presentation, complications and management of chronic pancreatitis in children. Results: Of 3887 children who attended the Gastroenterology department, 99(2.5%) had chronic pancreatitis, of which 60 (60.6%) were males. In 95(95.9%) patients no definite cause was detected and they were labeled as Idiopathic chronic pancreatitis. All patients had abdominal pain, while 9(9.1%) had diabetes mellitus. Of the 22 children tested for stool fat, 10(45.5%) had steatorrhea. Pancreatic calcification was seen in 69 (69.7%). 68 (71.6%) patients with idiopathic chronic pancreatitis had calcification. Calcific idiopathic chronic pancreatitis was more frequent in males (67.6% vs. 48.1%, P=0.07), and was more commonly associated with diabetes mellitus (13.2% vs. none, P=0.047) and steatorrhea (61.5% vs. 16.7%, P=0.069). Pseudocyst (17.1%) and ascites (9.1%) were the most common complications. All children were treated with pancreatic enzyme supplements for pain relief. 57 patients were followed up. With enzyme supplementation, pain relief was present in 32 (56.1%) patients. Of those who did not improve, 10 underwent endotherapy and 15 underwent surgery. Follow up of 8 patients who underwent endotherapy, showed that 5 (62.5%) had relief. Follow up of 11 patients who underwent surgery showed that only 3 (27 %) had pain relief. There was no death.

Fecal elastase1 and acid steatocrit estimation in chronic pancreatitis.

Background Measurement of pancreatic exocrine function and steatorrhea in chronic pancreatitis in the clinical setting has not received much attention. Aim To assess pancreatic exocrine function and fecal fat excretion in a cohort of patients with chronic pancreatitis. Methods Stool elastase1 levels were measured in 101 patients using polyclonal ELISA and acid steatocrit was measured in 86 chronic pancreatitis patients. Associations with etiology, clinical and radiological features, and diabetic status were examined. Results Low pancreatic stool elastase1 (<200 μg/g stool) was observed in two-thirds of chronic pancreatitis patients and correlated with ductal dilatation, pancreatic atrophy and calcification (p<0.05). Diabetes was more prevalent in chronic pancreatitis patients with low elastase1 (p=0.045). There was no difference in mean acid steatocrit between diabetics and non-diabetics (p=0.069). Elastase1 levels had a negative correlation with acid steatocrit (r=–0.606, p<0.001), and a positive correlation (r=0.412) with body mass index (p=0.013). Fiftythree percent of chronic pancreatitis patients with normal BMI had low elastase1. Conclusions Fecal elastase1 levels correlated with fecal fat excretion and BMI. Fecal elastase1 estimation may be helpful in early detection of malabsorption in chronic pancreatitis.

Outcome of pancreatic ascites in patients with tropical calcific pancreatitis managed using a uniform treatment protocol.

Pancreatic ascites or internal pancreatic fistula is a known complication of chronic pancreatitis. This condition is associated with considerable morbidity and mortality. The management approach of pancreatic ascites in tropical calcific pancreatitis is infrequently reported owing to the low incidence of this condition. Between December 2005 and June 2007, 11 patients with pancreatic ascites with tropical calcific pancreatitis (male:female 7:4, mean age 29.5 [14.2] years) were treated. A retrospective analysis of patients who underwent endotherapy and surgery for this condition based on an institutional protocol was performed. The end point was resolution of pancreatic ascites and relief of symptoms. All patients had pancreatic ascites, and one patient also had pancreatic pleural effusion. Endoscopic transpapillary stenting was possible in nine patients (81 ). Identification of site of leak and placement of an endoscopic stent across the PD disruption was possible in five (45 ) patients. All these patients had relief of ascites. Mean number of endotherapy sessions required before control of ascites was 1.8. Among the remaining four (36.6 ) patients who had ERCP, placement of stent across the leak was unsuccessful; however stenting helped stabilize the general condition and nutritional status. These four patients and two patients who failed ERP underwent lateral pancreatojejunostomy surgery. Morbidity was observed in three patients who underwent surgery and one patient died due to sepsis and hemorrhage. All patients who had surgical drainage had complete relief of ascites and symptoms. In patients with pancreatic ascites in tropical calcific pancreatitis endotherapy and transpapillary stenting helps in resolution of ascites in nearly half of the patients. In the remaining patients preliminary conservative management followed by surgical pancreatic ductal drainage provides good relief of symptoms.

Enfermedad celíaca del adulto / Adult celiac disease

Celiac disease is a chronic enteropathy caused by intolerance to gluten. The true prevalence of this condition is much greater than previously recognized, with more silent cases being diagnosed and a greater proportion of cases diagnosed later in adulthood. It presents with a spectrum of clinical manifestations and histological abnormalities. Duodenal biopsy remains the gold standard for diagnosis of celiac disease, even though there are new serologic tests that are very specific. Correlation of clinical, serologic, and histological features are essential for a definitive diagnosis of celiac disease. The pathogenesis consists in an interaction between genetic, immunologic and environmental factors, which interact with HLA molecules to activate an immunologic response in the small bowel mucosa causing tissue damage. The main treatment is a free gluten diet. Health risks for untreated celiac disease appear to be greater compared with those patients who adhere to this treatment.

Fat Content in Stool of Children with Rotaviral Enteritis

PURPOSE: Rotavirus is a leading cause of severe gastroenteritis in infants and young children around the world. The aim of this study is to investigate the fat content in stools of patients with rotaviral enteritis compared to the stools of children who had no gastroenteritis. METHODS: Seventy two patients who were admitted to Konkuk University Hospital, College of Medicine from Jun 2001 to May 2002 due to rotaviral enteritis and seventy five patients who were admitted at the same time with other diseases with no gastrointestinal problems as control, were enrolled in this study. The age of patients was from one month to five years. The average age of children with rotaviral enteritis was 17+/-11 months and the average age of control patients was 14+/-15 months. Fat content of stools was investigated by acid steatocrit tests in both patients with rotaviral enteritis and control. RESULTS: Acid steatocrit value of patients with rotaviral enteritis was higher than that of control patients. There was no difference in acid steatocrit value of children with rotaviral enteritis among the age groups. In one month- to six month-old infants, there was no difference in acid steatocrit values between the children with rotaviral enteritis and control patients. But, over the age of seven months, the acid steatocrit value of children with rotaviral enteritis was higher than that of control patients. CONCLUSIONS: We are of the opinion that fat malabsorption in patients with rotaviral enteritis and steatorrhea in rotaviral enteritis may result from decreased fat absorption in the small intestine.

Acid Steatocrit in Korean Infants

PURPOSE: Steatorrhea tests have been developed using various methods. Acid steatocrit is a simple method to detect steatorrhea and has very high sensitivity and specificity. This present study was designed to establish the normal values of acid steatocrit in Korean infants and to find the difference according to the various feeding methods. METHODS: Acid steatocrit tests were conducted on 128 infants who were under 12 months of age and who had non-specific gastrointestinal diseases between May 1998 and April 2001. The results were classified into neonatal ages(79 neonates), 1-6 months(28 infants), 7-12 months(21 infants). This included formula-fed(46 neonates) and human milk-fed(33 neonates), 1-6 months formula-fed (18 infants) and human milk-fed(10 infants), 7-12 months formula-fed(11 infants) and human milk-fed(10 infants). RESULTS: The acid steatocrit values decreased by infant age in months. Acid steatocrit values decreased much more after 7 months of ages. The acid steatocrit values of human milk-fed infants were significantly lower than those of formula-fed infants. CONCLUSION: Our study confirms that a physiologic steatorrhea was found in the infant period and decreases by infant age of months. The acid steatocrit test might be useful for the evaluation of gastrointestinal milk fat malabsorption disorders and therapeutic effects.