Clinical spectrum & changing presentation of celiac disease in Indian children

Background & objectives: Celiac disease (CD) is a genetic immune mediated disorder characterised by gluten intolerance. This single centre study, from north India was aimed to assess the clinical, serological and histological profile of CD in a large cohort of children and the changing trends in its presentation. Methods: A review of clinical details of CD children diagnosed between 2000 and 2019 and currently on follow up was performed. Information on demography, symptoms, associated conditions, serology, biopsy findings and gluten-free diet were analyzed. Results: The mean age (±standard deviation) of 891 children included in the study, at onset and at diagnosis was 4.0±2.7 and 6.2±3.1 yr, respectively. Growth faltering, abdominal pain, abdominal distension and diarrhoea were presenting symptoms in 70, 64.2, 61.2 and 58.2 per cent, respectively. A positive family history of CD was present in 14 per cent and autoimmune conditions in 12.3 per cent of children. Thyroid disorders were seen in 8.5 per cent of children and Type 1 diabetes mellitus (T1DM) in 5.7 per cent. The duration of breastfeeding had a weak positive correlation with age at onset and diagnosis of CD (P<0.001). Non-classical CD was significantly more common in children aged >10 yr and in those presenting after 2010 (P<0.01). T1DM and hypothyroidism occurred more frequently in non-compliant children. Interpretation & conclusions: This was the largest single centre study, pertaining to the presentation and follow up of CD in children. Infants and young children were more likely to present with classical symptoms of diarrhoea, abdominal distension and growth failure while older children presented with non-classical CD. There was a trend towards non-classical forms of CD in recent years.

SMILE-like lesion in the anal canal

Stratified mucin-producing intraepithelial lesion (SMILE) is an intraepithelial lesion with overlapping features of the high-grade squamous intraepithelial lesion (HSIL) and adenocarcinoma in situ (AIS). Currently, it is well described in the cervix. We present a case showing similar SMILE-like lesions in the polypectomy specimen from the anal canal along with invasive adenocarcinoma components. This lesion showed an immuno-profile characteristic of a SMILE lesion described in the cervix, such as p63 negativity, high ki67 index, and nuclear positivity for p16. It might be arising from the Human papillomavirus prone transitional region of the anal canal as described in the cervix. However, we could not assure this association and etiological link due to insufficient material in the formalin-fixed paraffin-embedded block. Notwithstanding, we strongly suggest that the HPV is the main driver for this SMILE-like lesion similar to what is described in the cervix. To our knowledge, this is the first case report of a SMILE lesion in the anal canal. Further studies will be required to elucidate the underlying pathogenetic mechanism of SMILE-like lesions described in the anal canal.

Superiority of non-capsulated 14C-urea breath test over capsule based method for detection of Helicobacter pylori infection – a preliminary report.

Background: 14C-urea breath test (14C-UBT) is employed as a ‘gold standard’ technique for the detection of active gastric Helicobacter pylori infection and is recommended as the best option for “test-and-treat” strategy in primary health care centers. Aim: To compare the performance of capsulated and non-capsulated 14C-UBT protocols for the detection of H. pylori infection in patients. Methods: Fifty eight H. pylori infected patients underwent routine upper GI endoscopy and biopsies were processed for rapid urease test (RUT) and histopathology examination. Capsulated 14C-UBT was done in a novel way by using 74 kBq of 14C-urea along with 6.0 MBq of 99mTc-diethylene triamine penta-acetic acid (99mTc-DTPA) to simultaneously monitor the movement and the fate of ingested capsule after delineating the stomach contour by using 20.0 MBq of 99mTechnetium pertechnetate (99mTcO4-) under dual head gamma camera. Noncapsulated 14C-UBT was performed within 2 days of the previous test and the results of these protocols were compared. Results: In 3 out of 58 H. pylori positive cases (5.17%), 14C-UBT results were found to be negative by using the capsulated method. Interestingly, on monitoring the real time images of the capsule in these cases it was found that misdiagnosis of H. pylori infection occurred mainly due to either rapid transit of the 14C-urea containing capsule from the upper gastric tract or its incomplete resolution in the stomach during the phase of breath collection. Conclusion: Use of non-capsulated 14C-UBT protocol appears to be a superior option than the conventional capsule based technique for the detection of H. pylori infection.

Endoscopic ultrasound-guided treatment of bleeding duodenal varix.

A 35-year-old man presented with recurrence of upper gastrointestinal bleed after eradication of esophageal varices. Upper gastrointestinal endoscopy revealed submucosal lesion in the duodenum and endoscopic ultrasound (EUS) demonstrated it to be a duodenal varix. Cyanoacrylate glue was injected into the duodenal varix and successful obliteration of the duodenal varix was demonstrated on a follow up EUS.

Successful resolution of bronchobiliary and biliocutaneous fistula by prolonged endoscopic transpapillary biliary drainage.

Bronchobiliary fistula is a rare condition that has been usually treated surgically. We report successful resolution of a rare case of combined bronchobiliary and biliocutaneous fistula by prolonged endoscopic transpapillary biliary drainage. The patient developed these fistulae following right hepatectomy for blunt trauma to the abdomen. Although endoscopic biliary drainage has been reported to be effective in healing of post-traumatic and post-surgical bile leaks, there are limited reports describing the efficacy of endoscopic drainage in complex biliary fistulas. This case report describes the successful closure of complex biliary fistula by prolonged endoscopic drainage.

Endoscopic examination of the upper esophagus by withdrawal of endoscope over guide wire.

Upper gastrointestinal (UGI) endoscopy is an important diagnostic modality in evaluation of patients with upper gastrointestinal (GI) disorders. However, lesions located in the cricopharyngeal area and upper esophagus can be missed, as this area may not be well visualized during endoscopy. This study was conducted to study the utility of a new technique of endoscopic examination of the upper esophagus by withdrawal of endoscope over guide wire in diagnosing esophageal disorders. Patients with suspected upper esophageal disorders on history and radiological investigations were assessed using guide wire assisted endoscopic examination during withdrawal of the endoscope. In this technique, endoscope is inserted into the esophagus under vision and thereafter the whole of esophagus, stomach and proximal duodenum is examined. The endoscope is then withdrawn into the mid-esophagus, a guide wire is fed into the biopsy channel, and thereafter inserted into the esophagus. Once guide wire has been advanced into the esophagus, the endoscope is withdrawn gently over the guide wire into esophagus carefully examining for lesions in upper esophagus and cricopharyngeal area. Twenty cases of various abnormalities localized to the upper esophagus were studied. The final diagnosis in these patients was cervical esophageal web (10), post transhiatal esophagectomy leak (4), heterotopic gastric mucosa (3), posttraumatic esophageal perforation (2), and Zenker's diverticulum (1). Intact web was detected in 2 patients and in 8 patients fractured web was seen. Guide wire assisted examination of upper esophagus improved the ability to visualize and characterize these lesions and no complications were encountered as a result of this procedure. Endoscopic examination of the upper esophagus by withdrawal of endoscope over guide wire is safe and effective in diagnosing anatomical abnormalities of the upper esophagus that may be missed or poorly characterized during standard endoscopy.

Massive hepatomegaly: a presenting manifestation of multiple myeloma.

We report a 50-year-old woman presenting with isolated massive hepatomegaly. Liver histology showed dilated sinusoids within which some atypical cells, probably of hematopoeitic origin, were identified. Bone marrow was densely packed with similar atypical cells with high nucleo-cytoplasmic ratio, which tested positive for plasma cell markers. Plasma protein electrophoresis showed a distinct M spike in the gamma globulin fraction and skeletal survey revealed multiple lytic lesions in the skull and pelvic bones. Thus, a final diagnosis of multiple myeloma was made. The patient has received six cycles of chemotherapy and is doing well.