Intravenous contrast enhanced computed tomography colonoscopy in children with suspected colonic polyps

Objective

The purpose of this study was to evaluate the diagnostic performance of intravenous contrast enhanced computed tomographic colonoscopy (IVCTC) in the diagnosis of clinically suspected colorectal polyps in children, using conventional colonoscopy (CC) as the gold standard.

Methods

This was a prospective study conducted between July 2008 and June 2010. 30 pediatric patients with history of rectal bleeding and clinically suspected to have colorectal polyps were enrolled. All of the patients underwent IVCTC followed by CC. 30 IVCTC and 31 CC were performed in 30 patients. The findings of IVCTC were compared with those of CC. Statistical analysis was performed to obtain diagnostic performance values of IVCTC on per polyp (sensitivity and positive predictive value) and per patient (sensitivity, specificity, positive predictive value and negative predictive value) basis.

Results

By IVCTC, 63 polyps were detected in 28 patients of which 53 polyps were eligible for inclusion in the statistical analysis. 60 polyps were detected by CC in 28 patients of which 50 polyps were eligible for inclusion in the statistical analysis. The per polyp sensitivity and positive predictive values were 94% and 88.6% respectively. The per patient sensitivity, specificity, positive predictive value, and negative predictive values were 96.4, 50, 96.4, and 50% respectively. Twenty polyps, in 10 patients, were visualized only after intravenous contrast administration of which 5 polyps, in 5 patients, were likely to have been missed in the absence of the intravenous contrast injection as these polyps were submerged in fluid. Four patients would have had a false negative CTC examination if the intravenous contrast had not been injected; while in another patient, the number of polyps would have been underestimated.

Conclusion

CTC is capable of serving as a safe and efficient non-invasive tool for evaluating children with clinically suspected colorectal polyps. Administration of intravenous contrast improves the sensitivity of polyp detection on CTC.     

A Case of Classical Galactosemia: Identification and Characterization of 3 Distinct Mutations in Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in a Single Family

Galactosemia is an autosomal recessive disorder of galactose metabolism. In the very first instance of its kind from India, the authors report the presence of three different galatose-1-phosphate uridyl transferase (GALT) gene mutations, associated with galactosemia, in a single Indian family. One of the three mutations, S307X, is a novel mutation (GenBank Accession number GQ355273) and is of nonsense nature causing the truncation of the GALT protein resulting in the decreased enzyme activity. The authors have also emphasized the importance of introduction of new born screening program for galactosemia and its genetic analysis in select settings across the country.     

Effect of tacrolimus in idiopathic membranous nephropathy: a meta-analysis

Background The efficacy and safety of immunosuppression for idiopathic membranous nephropathy （IMN） are still controversial. Recent studies showed tacrolimus is effective in the treatment of IMN. To evaluate the efficacy and safety of tacrolimus （TAC） for IMN, we conducted a meta-analysis of published medical literatures. Methods Studies addressing the effect of tacrolimus in IMN were searched on PUBMED, EMBASE, The Cochrane Library, and ClinicalTrials.gov （March 2013）. Trials comparing tacrolimus with corticosteroid versus control group （cyclophosphamide with corticosteroid） were included. The quality of the studies was assessed using Jadad method. Statistical analyses were performed using Review Manager 5.2 and the results were summarized by calculating the risk ratio （RR） for dichotomous data or the mean difference （MD） for continuous data with 95% confident interval （CI）. Results A total of four studies （259 patients） were included. It was shown that therapy with tacrolimus plus corticosteroid had a higher complete remission rate compared to therapy with cyclophosplamide plus corticosteroid （RR=1.53, 95% CI： 1.05-2.24, P 〈0.05）, but not significant on total remission, partial remission and adverse effects. Also, no significant alterations were observed in proteinuria and serum albumin level between the two groups. During the entire follow-up period, serum creatinine level remained stable in both groups without ±50% increase in its level. Conclusions TAC is more effective than cyclophosphamide （CTX） by achieving complete remission in patients with IMN. Multi-ethnic RCTs are needed to evaluate its long-term efficacy and safety. Chin Med J 2014;127 （14）： 2693-2699     

Neonatal Kawasaki disease with multiple coronary aneurysms and thrombocytopenia

Abstract:  We describe an occurrence of Kawasaki disease presenting in the neonatal period with multiple coronary aneurysms. Very few such presentations of this entity have been described in the literature and this is probably the youngest patient reported from India. We also highlight an atypical finding, thrombocytopenia during the second week of life and beyond.     

Childhood Plasmodium falciparum malaria complicated by splenic abscess

We report on an 8‐year‐old girl with Plasmodium falciparum malaria complicated by splenic abscess during the course of her infection. The diagnosis of malaria was based upon the demonstration of trophozoites of P. falciparum in the peripheral blood smear. The trophozoites of the same organism were visualized on the Giemsa‐stained smear prepared from the percutaneous splenic aspirate specimen. The patient failed to respond to parenteral Artesunate alone, which demanded emergent splenectomy. To our knowledge, this is the first report of splenic abscess complicating the course of childhood P. falciparum malaria in the English literature.     

Mitochondrial neuro-gastrointestinal encephalopathy syndrome

Mitochondrial neurogastrointestinal encephalomyopathy is a rare disorder affecting the pediatric age group with a heterogenous multisystem involvement. We happen to manage a young child with symptoms of constipation since infancy alongwith cachexia, seizures and peripheral neuropathy. The child later went into encephalopathy preterminally. This clinical syndrome fitted very well with mitochondrial neurogastrointestinal encephalomyopathy. The child had elevated lactate levels and electron microscopy of the rectal biopsy was suggestive of a mitochondrial disorder To the best of our knowledge there is no case report of this syndrome from India and since this presents with diagnostic difficulties so is being reported.