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.

Predictors of Malnutrition in Children with Cystic Fibrosis

Objective: To determine occurrence of malnutrition in childrenwith cystic fibrosis and identify predictors of malnutrition at time ofenrolment and after 2 years of follow up.Design: Retrospective chart review.Setting: Pediatric chest clinic at a tertiary-care center in northernIndia.Patients: Cystic fibrosis patients enrolled between 2009-2015with at least 3 years follow-up.Procedure: Weight and height were noted at enrolment, and after1 year and 2 years of follow-up. Clinical details, medications, andpulmonary exacerbations during second year were recorded.Main outcome measure: Occurrence of malnutrition i.e. weightfor age Z-score < -2.Results: 61 medical records were reviewed. Occurrence ofmalnutrition at baseline, and 1- and 2-year follow-up was 65.5%,54.1% and 57.3%, respectively. Weight for age Z-score atenrolment significantly correlated with time to diagnosis fromonset r=0.015, P=0.029). Weight for age Z-score at 2-year follow-up was significantly associated with steatorrhea (P=0.03),increased frequency of stools (P<0.01) and pulmonaryexacerbation (P=0.03) during second year. Linear regressionshowed significant association between weight for age Z-score at2 years with steatorrhea and pulmonary exacerbations [r=-0.795(-1.527, -0.062)] and [r=-0.261 (-0.493, -0.028)]. Pulmonaryexacerbations during second and third year had significantcorrelation with weight for age Z-score at the beginning ofrespective years (r = -0.219, P=0.015).Conclusion: Occurrence of malnutrition is high in children withcystic fibrosis in this region, with uncontrolled fat malabsorptionand recurrent respiratory infections being significant risk factors.

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.

A Case of Vitamin E Deficiency Syndrome Following Extensive Intestinal Resection

Both the inherited and acquired forms of vitamin E deficiency are implicated in chronic progressive neurological deficit. The clinical features include ataxia and prominent proprioceptive loss with depressed or absent tendon reflexes. We report a 63-year-old man with vitamin E deficiency syndrome caused by chronic fat malabsorption following exten-sive intestinal resection. Although replacement therapy prevented further deterioration, symptomatic improvement was not observed for two years. Early diagnosis and appropriate treatment is crucial.