A large pericardial cystic lymphangioma presenting as acute-onset respiratory distress in a child: a case report.

BACKGROUND: Lymphangiomas are rare benign malformations of the lymphatics that occur due to blockage of the lymphatic system during fetal development. They commonly occur in the neck and axilla, while involvement of the pericardium is rare. We report herein the case of a 16-month-old Sri Lankan child with a large pericardial cystic lymphangioma presenting with sudden-onset shortness of breath. CASE PRESENTATION: A 16-month-old Sri Lankan boy presented with sudden-onset dyspnea for 1-day duration following a febrile illness that lasted 2 days. On examination, he was afebrile and had subcostal, intercostal, and suprasternal recessions, with a respiratory rate of 50 breaths per minute. He had a loud expiratory grunt. The chest expansion was reduced on the right side, which was dull to percussion. Auscultation revealed a marked reduction of air entry over the right lower and mid zones. Chest X-ray showed a well-demarcated opacity involving the lower and mid zones of the right hemithorax associated with a tracheal shift to the opposite side. Ultrasound scan of the chest revealed fluid-filled right hemithorax suggesting a septate pleural effusion. A contrast-enhanced computed tomography scan of the thorax showed a large multiloculated extrapulmonary cystic lesion involving the right hemithorax with a mediastinal shift towards the left side associated with displacement of the right-side mediastinal structures. He underwent mini-thoracotomy and surgical excision of the cyst. A large cyst originating from the pericardium was observed and excised during surgery. Histological examination revealed a lesion composed of cysts devoid of a lining epithelium but separated by connective tissue, mature adipose tissue, and lymphoid aggregates. The child showed complete recovery postoperatively with full expansion of the ipsilateral lung. CONCLUSION: We report the case of a patient with cystic lymphangioma who was perfectly well and asymptomatic until 16 months of age. This case report presents the very rare occurrence of a large cystic lymphangioma originating from the pericardium. It highlights the importance of considering rare possibilities and performing prompt imaging in situations of diagnostic uncertainty to arrive at an accurate diagnosis that can be lifesaving.

Generic and disease-specific health-related quality of life in patients with Hirschsprung disease: A systematic review and meta-analysis.

BACKGROUND: Patients with Hirschsprung disease (HD) are at risk of persistent constipation, fecal incontinence or recurrent enterocolitis after surgical treatment, which in turn may impact physical and psychosocial functioning. Generic health-related quality of life (HRQoL) and disease-specific health-related quality of life are relevant outcome measures to assess the impact of HD on the QoL of these patients. AIM: To summarize all available evidence on HRQoL of patients with HD after surgery and the impact of possible moderating factors. METHODS: Pubmed, Web of Sciences, PsycInfo and Embase were searched with search terms related to 'Hirschsprung disease', 'Pediatrics' and 'Quality of life'. Mean and standard deviation of generic HRQoL overall and domain scores were extracted from each study, as well as data describing potential factors associated with QoL. Random effect models were used for meta-analytic aggregation of generic HRQoL scores. Meta-regression was used to assess the relationship between patient and clinical characteristics and generic HRQoL. Disease-specific HRQoL outcomes of patients with HD were systematically reviewed. RESULTS: Seventeen articles were included in the systematic review (n = 1137 patients) and 15 in the quantitative meta-analysis (n = 1024 patients). Four studies reported disease-specific HRQoL. Patient's age ranged between 0 and 21 years. Meta-analytic aggregation showed a non-significantly impaired generic HRQoL (d = -0.168 [95%CI: -0.481; 0.145], P = 0.293, I 2 = 94.9) in patients with HD compared to healthy controls. Physical (d = -0.042 [95%CI: -0.419; 0.335], P = 0.829, I 2 = 95.1), psychosocial (d = -0.159 [95%CI: -0.458; 0.141], P = 0.299, I 2 = 93.6) and social HRQoL (d = -0.092 [95%CI: -0.642; 0.457], P = 0.742, I² = 92.3) were also not significantly lower compared to healthy controls. There was no relation between health-related outcomes and the sex of the patients and whether generic HRQoL was measured by parental proxy or self-report. Disease-specific complaints of patients with HD impaired physical HRQoL, but not psychosocial and social HRQoL. CONCLUSION: In this systematic review and meta-analysis, no evidence was found for impaired generic HRQoL in patients with HD compared to healthy controls, neither for moderating effects of sex, parental proxy or self-report.

Epidemiological characteristics of Asian children with inflammatory bowel disease at diagnosis: Insights from an Asian-Pacific multi-centre registry network.

BACKGROUND: There remains a dearth of Asian epidemiological literature for paediatric inflammatory bowel disease (PIBD). AIM: To describe the presenting features of PIBD from 7 Asia-Pacific pediatric gastroenterology centers via a central standardised electronic data platform. METHODS: Clinical, endoscopic and radiologic data at diagnosis from the registry were extracted between 1st January 1995 to 31st December 2019. Disease phenotypic characteristics were classified as per the Paris classification system. RESULTS: There was a distinct rise in new PIBD cases: Nearly half (48.6%) of the cohort was diagnosed in the most recent 5 years (2015-2019). The ratio of Crohn's disease (CD):Ulcerative colitis (UC):IBD-Unclassified was 55.9%:38.3%:5.8%. The mean age was 9.07 years with a high proportion of very early onset IBD (VEO-IBD) (29.3%) and EO-IBD (52.7%). An over-representation of the Indian/South Asian ethnic group was observed which accounted for 37.0% of the overall Singapore/Malaysia subcohort (6.8%-9.0% Indians in census). Indian/South Asian CD patients were also most likely to present with symptomatic perianal disease (P = 0.003). CD patients presented with significantly more constitutional symptoms (fever, anorexia, malaise/fatigue and muscle-wasting) than UC and higher inflammatory indices (higher C-reactive protein and lower albumin levels). CONCLUSION: We observed a high incidence of VEO-IBD and an over-representation of the Indian ethnicity. South Asian CD patients were more likely to have symptomatic perianal disease.

Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature.

Spondylocostal dysplasia (SCD) is a rare costovertebral malformation characterised by short-trunk short stature. It is a recessively inherited disorder, and commonly identified disease-causing mutations are in DLL3 gene. The reported prevalence is 1 : 200,000 worldwide, and none was reported from Sri Lanka. We report a 7-year-old Sri Lankan girl with spondylocostal dysplasia presenting with short stature and scoliosis. Disproportionate short stature was noted with short upper segment and small thoracic cavity. Skeletal survey revealed fused vertebra involving T5-T6, T9-T10, and L3-L4. Butterfly vertebrae were noted in T2, T4, T6, and T9. Diagnosis of SCD was made based on classic radiological features including vertebral fusion and rib abnormalities. Spirometry was performed due to small thoracic cavity which showed results compatible with moderate to severe restrictive lung disease. The child did not report respiratory difficulties or recurrent chest infections up to the presentation. She was referred to an orthopaedic team which recommended conservative management with close follow-up. In conclusion, spondylocostal dysplasia should be considered in short-trunk short stature with rib abnormalities in the absence of limb shortening. Appropriate treatment and follow-up for restrictive lung disease would determine the long-term outcome.

Paucity of Interlobular Bile Ducts in Multidrug-Resistant P-Glycoprotein 3 (MDR3) Deficiency.

Multidrug-resistant P-glycoprotein 3 (MDR3) is a phospholipid translocator encoded by the ABCB4 gene located on chromosome 7. MDR3 mediates the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte into bile. Severe MDR3 deficiency typically occurs during childhood with progressive cholestasis evolving to cirrhosis and liver failure, requiring liver transplantation. In this article, we report 2 pediatric cases of severe MDR3 deficiency with paucity of interlobular bile ducts. Both underwent living donor liver transplantation at our center for decompensated liver disease and portal hypertension. We diagnosed severe MDR3 deficiency in both the cases with negative MDR3 immunostaining in the explanted liver. Genetic studies revealed homozygous deletion single base pair deletion in exon 24 of the ABCB4 gene in the second child. The patients are on regular follow-up after liver transplant and are doing well. Our report highlights that cholangiopathy in MDR3 deficiency can lead to ductopenia in pediatric livers.

Human-porcine reassortant rotavirus generated by multiple reassortment events in a Sri Lankan child with diarrhea.

A human-porcine reassortant rotavirus, strain R1207, was identified from 74 group A rotaviruses detected in 197 (37.6%) stool samples collected from patients who attended a tertiary care hospital in Ragama, Sri Lanka. This is the first report of a human-porcine reassortant rotavirus in Sri Lanka. The patient was a 12-month-old boy who had been hospitalized with fever and acute diarrhea with a duration of 6 days. The family had pigs at home before the birth of this boy. However, the neighbors still practice pig farming. The genotype constellation of R1207 was G4-P[6]-I1-R1-C1-M1-A1-N1-T1-E1-H1. This is based on the assignment of all the eleven gene segments a full genome-based genotyping system. R1207 showed a 4-2-3-2 genomic electrophoretic migration pattern, which is characteristic of group A rotaviruses. Our analyses revealed that five (NSP2, NSP4, VP1, VP2, and VP7) of the 11 genes were closely related to the respective genes of porcine strains. Although the remaining six genes (NSP1, NSP3, NSP5, VP3, VP4, and VP6) were related to human strains, with the exception of the gene sequence of NSP1, all of these human strains were human-porcine reassortants. With a genogroup 1 genetic backbone, this strain was possibly formed via multiple genetic reassortments. We do not know whether this strain is circulating in pigs, as no data are available on porcine rotaviruses in Sri Lanka. Surveillance should be strengthened to determine the epidemiology of this genotype of rotavirus in Sri Lanka and to assess whether the infection was limited or sustained by ongoing human-to-human transmission.

Constipation in children: novel insight into epidemiology, pathophysiology and management.

Constipation in children is a common health problem affecting 0.7% to 29.6% children across the world. Exact etiology for developing symptoms is not clear in children and the majority is considered to have functional constipation. Alteration of rectal and pelvic floor function through the brain-gut axis seems to play a crucial role in the etiology. The diagnosis is often a symptom-based clinical process. Recently developed Rome III diagnostic criteria looks promising, both in clinical and research fields. Laboratory investigations such as barium enema, colonoscopy, anorectal manometry and colonic transit studies are rarely indicated except in those who do not respond to standard management. Treatment of childhood constipation involves several facets including education and demystification, toilet training, rational use of laxatives for disimpaction and maintenance and regular follow-up. Surgical options should be considered only when medical therapy fails in long standing constipation. Since most of the management strategies of childhood constipation are not evidence-based, high-quality randomized controlled trials are required to assess the efficacy of currently available or newly emerging therapeutic options. Contrary to the common belief that children outgrow constipation as they grow up, a sizable percentage continue to have symptoms beyond puberty.