Clinicohistological correlation of etiological spectrum of chronic liver disease diagnosed during noncirrhotic stages in children: Can need of liver biopsy be obviated?

BACKGROUND AND AIM: Limited data exist regarding the etiological spectrum of the subset of chronic liver diseases (CLDs) diagnosed in noncirrhotic states in children. Our primary objective was to study the clinicoetiological profile of CLDs detected in noncirrhotic stages in children younger than 12 years of age. The secondary objective was to find the hepatic histological correlation of provisional diagnosis by different ranks of doctors. METHODS: This was an observational epidemiological study, cross-sectional in design, conducted in a tertiary-care setting over a 2-year period. RESULTS: Thirty-seven cases were enrolled, with a mean ± SD age of 8 ± 4.1 years and a male:female ratio of 1.8:1. Etiologies noted were Wilson disease (n = 8), autoimmune hepatitis (n = 4), secondary hemochromatosis (n = 4), chronic hepatitis B (n = 3), chronic hepatitis C (n = 2), non-alcoholic steatohepatitis (n = 2), progressive familial intrahepatic cholestasis (n = 2), extrahepatic biliary atresia (n = 2), Alagille syndrome (n = 1), galactosemia (n = 1), Gaucher disease (n = 1), Niemann-Pick disease (n = 1), and Budd-Chiari syndrome (n = 1), with an inconclusive diagnosis in five children. Relevant investigations were ordered more frequently by the specialist consultant (SC) and super specialist (SS) combined in comparison with the senior resident (SR) and junior resident (JR) together. (P = 0.0013). Irrelevance of the tests ordered was significantly higher in the junior tier (JR and SR; SR > JR) in contrast to the senior tier of doctors (SC and SS) (P < 0.01). The clinicohistological correlation of an etiological diagnosis significantly differed between the junior and senior ranks of physicians. We noted that an ideal clinical acumen could help to avoid liver biopsy for etiological diagnosis in 78.3% (29/37) of the study population. CONCLUSION: Interpretation of clinical presentation by the senior set of doctors is preferable, which could obviate the need for liver biopsy regarding diagnosis in a proportion of pediatric CLD patients.

Validation of Revised Baveno VI Criteria for Screening of Varices Needing Treatment in Children with Cirrhosis.

BACKGROUND: Baveno VI criteria for screening varices needing treatment (VNT) have not yet been validated in an exclusive pediatric and adolescent set of the population, in whom baseline parameters differ in relation to adults. Therefore, our primary objective was to validate Baveno VI and its expanded form in children below 18 years of age. The secondary aim was to elicit whether any revision of the above criteria with a target of not missing more than 5% VNT could be more accurate for this age group. MATERIALS AND METHODS: The work was carried out in two medical institutes, over a span of 3 years. Consecutively enrolled patients below 18 years of age, with compensated cirrhosis confirmed by liver biopsy, were evaluated for related blood parameters, transient elastography (TE) and esophagogastroduodenoscopy. RESULTS: Out of the 33 recruited patients, five (15.15%) met the criteria for VNT. The sensitivity, specificity, PPV and NPV of Baveno VI and Expanded Baveno VI were observed as 60%, 92.3%, 60% and 92.3%, and 20%, 100%, 100% and 88%, respectively. We found that the Revised Baveno VI criteria with TE <19 kPa and platelet count of >175×109 cells/L, with sensitivity 100%, specificity 79%, PPV 45%, NPV 100% and accuracy of 82%, are more appropriate for this age group. CONCLUSION: We propose that further multicentrer studies with a larger sample size should be conducted before incorporating Revised Baveno VI criteria for high-risk varices in patients below 18 years in future guidelines.

Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case.

Varadi Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Our patient had a broad forehead, arched eyebrows, left-sided squint, hypertelorism, epicanthic folds, fleshy nodular tongue, midline upper lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and cerebellar hypoplasia with molar tooth sign consistent with the diagnosis of Varadi Papp syndrome.

Etiology, clinical spectrum and outcome of metabolic liver diseases in children.

OBJECTIVE: To determine the etiology, clinical spectrum and outcome of metabolic liver diseases (MLD) in children admitted in a tertiary care hospital of Eastern India. STUDY DESIGN: An observational study. PLACE AND DURATION OF STUDY: Paediatric Liver Clinic and Paediatrics Inpatient Department of Nilratan Sircar Medical College and Hospital, Kolkata, Eastern India, from April 2009 to March 2011. METHODOLOGY: All children aged 0 - 12 years having characteristic clinical features along with diagnostic hallmark of any MLDs were included in this study and data were collected on a pre-designed proforma. After appropriate management and discharge, all patients were followed-up for next 6 months. RESULTS: Fifty one children with mean age 4.34 ± 3.78 years (range 2 days - 12 years), male: female ratio 1.55:1, were studied. The etiologies were Wilson's disease (33.33%, n = 17); glycogen storage disorder (23.53%, n = 12); galactosemia (19.61%, n = 10); non-alcoholic fatty liver disease (11.76%, n = 6); Gaucher disease (5.88%, n = 3); mucopolysaccharidoses (3.92%, n = 2) and familial hyperlipoproteinemia type-I (1.96%, n = 1). Jaundice (n = 24) and hepatomegaly (n = 47), was the commonest symptom and sign respectively. Of the 17 non-responders, most were Wilson's disease (n = 7) cases. There was statistical difference in outcome with respect to INR > 1.3 at diagnosis (p = 0.026). CONCLUSION: High index of suspicion, early detection and screening, simple dietary modification and cost effective drugs along with good compliance are sufficient to treat and even prevent evolution of most causes of the MLDs.

Rheumatic valvular insufficiency in Bardet-Biedl syndrome: a case report.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with multisystem affection. Cardiac Involvement, when present is usually in the form of congenital heart disease. However, valvular involvement due to acquired heart disease is extremely unusual. Herein, a 10-year-old boy of Bardet-Biedl syndrome is reported who presented with multiple rheumatic valvular regurgitation.

Profile of childhood cancers: a multicentric study.

The incidence of cancer has been increasing steadily in the developing world including India. Childhood cancers are a special entity with different genetic, environmental factors playing a role in their aetiology. The profiles of cancer incidence reflect the racial, cultural and geographical diversity within populations. This article shows the profile of childhood cancer across three medical college hospitals in the state of West Bengal in India and the data were collected from the period between 2008 and 2011. The results showed leukaemia was the most common cancer affecting children followed by lymphoma and retinoblastoma.The profile of childhood cancers showed wide variation among the age groups. Frequency of retinoblastoma, renal tumours, neuroblastoma and hepatic tumours were higher in children less than five years whereas lymphoma, leukaemia, bone tumours and central nervous system tumours were found more in children above five years. As many of common childhood malignancies are curable there is need to have a dedicated paediatric cancer registry for assessing the magnitude of problem in our country as paediatric cancers show wide variation across centres.

Neurocutaneous syndrome: a prospective study.

BACKGROUND: Neurocutaneous syndromes (NCS) are a group of genetic disorders that produce a variety of developmental abnormalities of the skin along with an increased risk of neurological complications. Cutaneous manifestations usually appear early in life and progress with time, but neurological features generally present at a later age. There is a paucity of data regarding the evolution of skin lesions and their correlation with the central nervous system involvement in children. AIM: The primary objective was to track the course of skin lesions in various forms of NCS in the pediatric age group. Our secondary aim was to assess whether there was any predictive value of the lesions in relation to the neurological manifestations. MATERIALS AND METHODS: This prospective longitudinal study was conducted at a tertiary care pediatric dermatology referral clinic of the Institute of Child Health, Kolkata, West Bengal. Children between the age group 0 and 12 years were included in the study on the basis of standard diagnostic criteria for different NCS, during the period from March, 2000 to February, 2004, and each of the enrolled cases were followed up for a duration of six years. RESULTS: The study population comprised of 67 children (35 boys, 32 girls).The mean age of presentation was 33.8±27.8 months (range 10 days to 111 months). The various forms of NCS observed was neurofibromatosis 1(NF1) (n=33), tuberous sclerosis complex (TSC) (n=23), Sturge Weber syndrome (n=6), ataxia telangiectasia (n=2), PHACE syndrome (n=1), incontinentia pigmenti (n=1), and hypomelanosis of Ito (n=1). The presentations were varied, ranging from predominantly cutaneous to primarily neurological, depending on the disease entity and age group concerned. There was a significant increase in the number of café au lait macules (CALMs) with time (P=0.0002) in NF1, unlike that of hypopigmented macules of TSC (P=0.15). Statistically, no relation was documented between the evolution of skin lesions and neurological manifestations in the major groups. CONCLUSION: As NCS is not an uncommon disease in children, it is always necessary to find out the subtle neurological signs, whenever we observe any case with cutaneous markers suggestive of NCS. In addition, it is a must to do a detailed dermatological examination in a child with central nervous system involvement, in the pediatric population. However, the neurological course cannot be predicted from skin lesions.

Eligibility criteria of Doctorate in Medicine (Medical Gastroenterology) - is the change justified?

Eligibility criteria of Doctorate in Medicine (DM) in Medical Gastroenterology had been changed recently by Medical Council of India from MD/DNB in General Medicine and Pediatrics to only that of General Medicine. As DM (Pediatric Gastroenterology) has not come up in a big way in India, this will only lead to shortage of skilled manpower in near future in this emerging field. Enthusiastic pediatricians will also be reluctant to take the discipline, as DM degrees in other broad (adult) superspecialities are open to them.

Non-cirrhotic portal fibrosis among children admitted in a tertiary care hospital of Kolkata: a search for possible aetiologies.

Non-cirrhotic portal fibrosis (NCPF) is reported to be a very infrequent cause of portal hypertension (PHT) in paediatric population, but a number of cases of NCPF were found in the paediatric ward of NRS Medical College and Hospital, Kolkata which prompted us to do a study with objectives to find out the proportion of NCPF cases among the study population (the total number of PHT cases admitted in the study period) and their sociodemographic profile with special reference to residence in arsenic affected areas. It was a clinic-based retrospective study. All children below 12 years during the study period (August 2005 to July 2008) with clinical features suggestive of PHT were screened for NCPF. Relevant investigations were done and guardians of all the PHT patients were interviewed with a predesigned pretested questionnaire. Among the total 134 cases of PHT, 29 (21.64%) were due to NCPF and the remaining 105 (78.36%) cases were due to other causes of PHT other than NCPF. Among the sociodemographic variables studied significant association was found with residency in arsenic affected areas. The study highlights the need of extensive studies to validate the association in the paediatric population.

Effectiveness of beta blockers in primary prophylaxis of variceal bleeding in children with portal hypertension.

AIM: The primary aim of our study was to assess the effectiveness of beta blockers in non bleeding portal hypertensive children. The secondary objective was to evaluate whether the newer generation beta blockers were superior compared to conventional ones. METHODS: Conventional propranolol and newer generation carvedilol were administered to 31 subjects each, after stratifying them into nearly equal subgroups according to etiology (sinusoidal or presinusoidal). RESULTS: At the end of 2 years study period, 3 children (4.83%) had breakthrough bleeding. A decrease, increase and no alteration in grade of oesophageal varices was seen in 40, 9 and 13 cases respectively. Of the 9 children with associated gastroeosophageal varices (GOV), the severity of lesions was reduced in 8 of them. Both the drugs had efficacious outcome in sinusoidal as well as presinusoidal cases, having a significant coefficient of correlation (r > 0.5) with time. Carvedilol was more effective than propranolol statistically (p = 0.035 and p = 0.034 respectively), only at 4 and 5 month follow-up period. CONCLUSION: Beta blockers are effective in preventing variceal bleed in children with portal hypertension. Long-term efficacy of carvedilol and propranolol was similar.

Overlap of sturge-weber syndrome and klippel-trenaunay syndrome.

Sturge-Weber syndrome is a rare sporadic condition of mesodermal phakomatosis, characterized by purple-colored flat cutaneous cranial (face) hemangiomas (most commonly along the trigeminal nerve), glaucoma and vascular lesions in the ipsilateral brain and meninges. Klippel-Trenaunay syndrome is also an uncommon mesodermal phakomatosis characterized by a triad of cutaneous and visceral hemangiomas, venous varicosities and soft tissue or bone hypertrophy. Sturge-Weber syndrome in combination with Klippel-Trenaunay syndrome is unusual. Because of the rarity, we report here a 3-year-old boy who presented with overlapping features of both the syndromes.

Profile of hepatitis A infection with atypical manifestations in children.

We assessed the clinical course and biochemical profile of symptomatic children with viral hepatitis A who had atypical manifestations. Of 229 children with hepatitis A, atypical manifestations were found in 32 (14%) subjects. Prolonged cholestasis (n = 14), acute liver failure (9), relapse (9), ascites (8), and hematological problems (8) were the common presentations. Liver histology was suggestive of chronic liver disease in six children with protracted jaundice. Patients with atypical presentations were older (7.7 [1.6] years vs. 6.5 [2.6] years; p=0.012) and had higher total serum bilirubin (13.7 [8.1] mg/dL vs. 7.2 [4.0] mg/dL; p=<0.001) than those with typical presentation. Approximately 15% of children with acute hepatitis A infection have atypical presentation which is associated with increase in morbidity.

Unusual associations of necrotizing fascitis: a case series report from a tertiary care hospital.

Necrotizing fasciitis is a rapidly progressive, potentially fatal infection of the superficial fascia and subcutaneous tissue. It is rare in children. We report three such cases in which differentiating from common soft tissue infection was challenging. High index of suspicion is important as management initiated at an early stage is rewarding.

Aetiology, clinical profile and prognostic indicators for children with acute liver failure admitted in a teaching hospital in Kolkata.

OBJECTIVE: To estimate the prevalence of hepatotropic viruses in the causation of acute liver failure in children admitted to a tertiary hospital in Kolkata. DESIGN: Analysis of clinical and laboratory parameters (including viral markers) of children with acute liver failure using a predesigned, structured proforma. SUBJECTS AND SETTINGS: Admitted patients aged from 1 through 12 years who met the criteria of acute liver failure were included in the study. RESULTS: Of the 45 patients in our study, a majority was from the southern part of West Bengal. Their mean age was 7.12 +/- 0.37 years. The male: female ratio was 1:1.25. It was possible to determine the aetiology in 35 of the 45 patients (77.7%) admitted. Of these 35, a diagnosis of hepatitis due to hepatotropic viruses was made in 30 patients. The hepatitis A virus was responsible for 16 of the 30 cases (53.3%), 9 cases attributed to HAV only. Following this was the hepatitis E virus causing ALF in 14 cases (46.6%), 7 singularly so. Hepatitis B virus caused 8 cases (26.6%), 6 singly. The survival rate during hospital stay was 51.1%. Prodrome, decreased liver span, ascites, cerebral oedema, coagulopathy, renal failure, spontaneous bacterial peritonitis, signs and symptoms of clinical sepsis (corroborated by laboratory data), severe hypoalbuminaemia and electrolyte imbalance were significantly more in patients who died. The mean age, prothrombin time, serum bilirubin level and stage of encephalopathy differed significantly between survivors and non-survivors. CONCLUSION: In southern Bengal, hepatotropic viruses are the predominant cause of acute liver failure in children. Of these, the hepatitis viruses A and E transmitted via the enteric route dominate (24 of 30 cases).