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.

Bilateral psoas abscess: atypical presentation of spinal tuberculosis

Three patients who came to the surgical outpatient department of 'Postgraduate Institute of Medical Education and Research', Chandigarh, India with features suggestive of acute abdomen are presented. On thorough evaluation, they had bilateral psoas abscess and on detailed investigations, tuberculosis was found to be the etiological factor. They were treated conservatively with good follow-up results. Psoas abscess may be clinically difficult to diagnose because of its rarity, insidious onset of the disease, and non-specific clinical presentation which can cause diagnostic delays resulting in high morbidity. Early diagnosis and appropriate management remains a challenge for clinicians. All three patients presented here have recovered following detailed investigation and appropriate management. The diagnosis of spinal tuberculosis should be considered in patients with vertebral osteomyelitis, psoas abscess, and appropriate risk factors such as a history of previous exposure in both developed and developing countries, as tuberculosis is re-emerging as an important etiological factor in spinal pathologies

Changing spectrum of celiac disease in India

Celiac disease is an important cause of chronic diarrhea, failure to thrive, and anemia in children. Mode of presentation of celiac disease has changes in last few years. Study was conducted to determine the mode of clinical presentation of a large group of patients with celiac disease and whether there has been a change in the presentation with the time. A prospective study was conducted on 134 children diagnosed to be having celiac disease in the Pediatric Gastroenterology, PGIMER, Chandigarh, from July 1st 2006 to December 31[st] 2007. Their detailed clinical profile was recorded on pretested proforma and all patients underwent hemogram, liver function tests, IgA Anti tTg, and upper GI endoscopy. Major symptoms at presentation were diarrhea [54.5%], failure to thrive [52.2%], abdominal distension [41%], anemia [40%], pain abdomen [19.4%], vomiting [15.7%] and constipation [2.2% of cases]. 60.4% of patients had short stature. Anemia was microcytic hypochromic in 79.1% of patients, and dimorphic in 20.9%. Serum transaminases were raised in38.8% of cases. The mean serum anti tTG level was 164.24U/ml [Range 0-749 U/ml] and levels correlated with the severity of small intestinal damage on biopsy. 15 patients were negative for the serology but 8 out of them had IgA deficiency and all had histopathology suggestive of celiac disease. Classical presentation of celiac disease is less commonly encountered these days probably related to the more widespread use of serologic testing and early recognition of atypical manifestations of celiac disease

Inflammatory pseudotumour of the liver: a diagnostic dilemma.

Inflammatory pseudotumour is a rare, focal, benign inflammatory lesion of the liver parenchyma. It is largely a self-limiting entity and has favorable prognosis; it is thus important to preoperatively distinguish this lesion from malignancy, which it closely imitates. Inflammatory pseudotumour may present variously. We present the case of a 54-year old gentleman who presented with a three-month history of low-grade intermittent fever. Ultrasonography and computed tomography revealed a mass in the left lobe of the liver and the erythrocyte sedimentation rate was raised with coincident hypergammaglobulinaemia. A diagnostic laparotomy with left lateral hepatectomy was performed and histopathological evaluation of the specimen along with special staining and tissue culture revealed an inflammatory pseudotumour. On the second day post-operative the fever subsided and following an uneventful five days the patient was discharged and remains well at one-year follow up with no recurrence or relapse.

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.