Clinical Profile of Acute Pancreatitis in Children and Adolescents from a Single Center in Northern India.

Introduction: There has been an increase in incidence of pancreatitis in children all over the world; studies in developed countries shown multiple etiological factors such as drugs, infections, trauma, anatomic abnormalities, and/or genetic pancreatitis in children; however, there are sparse data from the developing countries. This study was undertaken to determine the characteristics of Indian children with acute pancreatitis (AP), mainly the clinical features, etiology, complication, association, genetic factors, and outcome and recurrence. Methods: We performed a retrospective study of all patients under the age of 18 years, who had a final diagnosis of pancreatitis admitted at our center between 2017 and 2019. Results: During the 3-year period from 2017 to 2019, 40 patients were admitted at our center with AP. We found a definite etiology in 62.5% cases of patients, which were broadly grouped into seven etiologies: structural, genetic, drug induced, concurrent illness, cholelithiasis related, metabolic, and autoimmune. Recurrence of acute episodes was noted in 13 patients (32.5%). Of these, 11 were found to have a genetic mutation, underlying structural abnormality, or concurrent illness. In our study, we found that 23 patients (57.5%) had mild AP, while 14 patients (35%) had moderately severe pancreatitis; however, 3 patients (7.5%) had severe AP. Discussion: We found that most cases of pancreatitis in children were of mild severity, and the etiology was quite different than adults, and most cases of acute recurrent pancreatitis have a definite etiology of either genetic mutation or structural anomaly.

Group Dialectical-Behavior Therapy Skills Training for Conversion Disorder With Seizures.

Neuroimaging evidence suggests deficits in affective regulation in conversion disorder (CD). Dialectical-behavior therapy skills training (DBT-ST) was developed to target emotion dysregulation. This study was aimed to test the feasibility of stand-alone DBT-ST for CD using Linehan's manual for borderline personality disorder. In a prospective naturalistic design, 19 adult outpatients diagnosed with video EEG-confirmed seizure type CD were recruited and received weekly group DBT. Seventeen out of 19 subjects finished an average of 20.5 weeks of treatment. The mean seizure rate decreased by 66%. Cessation of seizures occurred in 35% of the sample. Completion rates reached 90%.

Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency.

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a type of fatty acid oxidation disorder in which long chain fatty acids cannot be transported into mitochondria for further processing and storage in our body. Typically, the patients present with lethargy, hypoglycemia, and raised serum transaminase levels before 2 years of age. Cholestatic jaundice as manifestation of this deficiency has been reported rarely; here, we report an adolescent male with CPT1A deficiency who developed prolonged cholestatic jaundice following a febrile illness.

Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene.

The Ehlers-Danlos' syndrome (EDS) constitutes a group of connective tissue disorders that are clinically and genetically heterogeneous. Mutations in the TNXB gene have been recognized as pathogenic causing classical-like EDS due to tenascin-X deficiency. Here, we have reported a unique case of compound heterozygous mutation in TNXB gene leading to esophageal stricture and scarred skin in a 7-year-old boy who presented to us with impacted foreign body in esophagus. The child was also having tendency to atrophic skin scarring secondary to trivial trauma.

Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation.

A 15-year-old boy who had a history of on and off pruritus and jaundice since many years found to have a novel mutation in TJP2 gene. On examination, he had clubbing, splenomegaly, grade 3 oesophageal varices and short stature. Investigation revealed direct hyperbirubinemia with elevated liver enzymes with normal gamma-glutamyl transferase (GGT). Antinuclear antibody (ANA), smooth muscle antibody (SMA) anti-liver kidney microsomal (anti-LKM) and viral markers for hepatitis were negative. However, IgG was elevated and anti-smooth muscle antibody (ASMA) was weekly positive (1:20). He was also given a trial of steroid and azathioprine for 1 year on the basis of liver biopsy findings, raised IgG and positive ASMA but finding no improvement stopped. Genetic testing by next-generation sequencing found a novel compound heterozygous missense variation in exon 17 of the TJP2 gene confirming progressive familial intrahepatic cholestasis type 4 as the aetiology of cholestatic liver disease.