Severe liver dysfunction in an infant with cystic fibrosis masquerading as metabolic liver disease.

We present a rare presentation of cystic fibrosis with neonatal cholestasis. Histological features of mucoviscidosis were present in liver involving the biliary tract, intestinal mucosa, pancreas, and lung. Besides, there was a rare association with autosomal dominant type of polycystic renal disease.

Molecular characterization of hepatitis A virus strains in a tertiary care health set up in north western India.

Background & objectives: Hepatitis A virus usually causes acute viral hepatitis (AVH) in the paediatric age group with a recent shift in age distribution and disease manifestations like acute liver failure (ALF). This has been attributed to mutations in 5’non-translated region (5’NTR) which affects the viral multiplication. The present study was aimed to carry out the molecular detection and phylogenetic analysis of hepatitis A virus strains circulating in north western India. Methods: Serum samples from in patients and those attending out patient department of pediatric gastroenterology in a tertiary care hospital in north India during 2007-2011 with clinically suspected AVH were tested for anti-hepatitis A virus (HAV) IgM antibodies. Acute phase serum samples were subjected to nested PCR targeting the 5’NTR region followed by sequencing of the representative strains. Results: A total of 1334 samples were tested, 290 (21.7%) were positive for anti-HAV IgM antibody. Of these, 78 serum samples (< 7 days old) were subjected to PCR and 47.4% (37/78) samples showed the presence of HAV RNA. Children < 15 yr of age accounted for majority (94%) of cases with highest seropositivity during rainy season. Sequencing of 15 representative strains was carried out and the circulating genotype was found to be III A. The nucleotide sequences showed high homology among the strains with a variation ranging from 0.1-1 per cent over the years. An important substitution of G to A at 324 position was shown by both AVH and ALF strains. The cumulative substitution in AVH strains Vs ALF strains as compared to GBM, Indian and prototype strain in the 200-500 region of 5’ NTR was comparable. Interpretation & conclusion: Our results showed hepatitis A still a disease of children with III A as a circulating genotype in this region. The mutations at 5’NTR region warrant further analysis as these affect the structure of internal ribosomal entry site which is important for viral replication.

Congenital intrahepatic porto-systemic venous shunt with galactosemia.

We report a 51-day-old infant with congenital intrahepatic porto-systemic venous shunt associated with galactosemia, who presented with cholestatic jaundice. He was treated with ursodeoxycholic acid, calcium supplements and galactose-free diet. The child was asymptomatic six weeks later.

Faecal lactoferrin assay as an adjunct to Clostridium difficile diarrhoea.

Inflammation is the hallmark of Clostridium difficile associated diarrhoea and lactoferrin is produced by inflammatory cells. The aim of this study was to find out whether faecal lactoferrin latex agglutination (FLLA) assay done simultaneously with Clostridium difficile toxin (CDT) assay would help in the diagnosis of C. difficile infection in paediatric patients. One hundred and fifty faecal samples were obtained from paediatric group of patients. Both FLLA and CDT assays were done in conjunction on these samples. The data were expressed by descriptive statistics. One hundred and nineteen patients received antibiotics while 31 did not receive it. Of the former group 89 (74.8%) had diarrhoea while 30 (25.2%) did not have it. No significant relationship (p=0.287) was seen between antibiotic usage and occurrence of diarrhoea. However, CDT positivity was seen to be influenced by prior antibiotic usage as 51 (42.9%) patients receiving antibiotics were CDT positive when compared to 4 (7.3%) of those who did not receive antibiotics (p=0.002). A highly statistically significant (p<0.001) relationship was seen between CDT and FLLA positivity. FLLA appears to be an useful adjunct for C. difficile associated intestinal diseases in children when both the tests are done simultaneously and when other enteropathogens causing inflammatory diarrhoeas are ruled out.