Challenges faced in establishing a pediatric liver transplant program in a lower-middle-income country with free healthcare service.

BACKGROUND: Liver transplant is the cure for children with liver failure. Sri Lanka is a lower-middle-income country with a predominant free, state health system. Pediatric liver transplant program in Sri Lanka is still in the budding state where the initial experience of the program is yet to be documented. METHODS: A retrospective review was performed including the clinical characteristics of all pediatric liver transplant recipients of Colombo North Centre for Liver Diseases since the inception of the program from June 2020 to May 2023. RESULTS: There were 14 PLT performed in 3 years. The median recipient age and weight were 8 years (6 months-15 years) and 23.3 kg (6.4-49.2), respectively. The majority were boys (64%). All were from low-income backgrounds. Indications for LT were acute liver failure (5/14), decompensated chronic liver disease (5/14), and acute on chronic liver failure (4/14). Underlying liver diseases were Wilson disease (6/14), autoimmune liver disease (3/14), biliary atresia (2/14) and progressive familial intrahepatic cholestasis type 3 (1/14), and unknown etiology (2/14). The majority were living donor liver transplants (86%). Of the living donors, 42% (5/12) were Buddhist priests. There were three immediate deaths and two late deaths. The 3-month survival was 78%, and overall survival was 64%. Living donor transplants carried a higher success rate (92%) compared to diseased donor transplants (0%; 2/2). CONCLUSIONS: Initial experience of pediatric liver transplant program of Sri Lanka is promising despite being established in a free healthcare system amidst the crisis circumstances.

Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!

BACKGROUND: Wilson's disease (WD) is a rare disorder of copper toxicosis. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is even rarer. The coexistence of these two disorders and their clinical implications are not yet reported. We report on a child who succumbed to death due to liver disease caused by both disorders, documenting their disease-causing mutations and highlighting the lessons learnt out of this case. CASE DESCRIPTION: A child who was diagnosed to have WD soon after birth due to known parental heterozygosity was later found to have developmental delay, seizures, and hyperammonemia. Subsequent evaluation confirmed hyperornithinemia-hyperammonamia-homocitrullinuria (HHH) syndrome as a comorbidity. Though this child was commenced on medical treatment for both the metabolic diseases since early life, his liver disease was rapidly progressive requiring a liver transplant (LTx) at 6-years. He died in the posttransplant period possibly due to sepsis and hidden metabolic consequences. CONCLUSION: This case highlights that co-occurrence of WD and HHH syndrome would cause progressive liver disease despite medical treatment. Hence, the close clinical follow-up and early LTx would be warranted. HOW TO CITE THIS ARTICLE: Fernando M, Vijay S, Santra S, et al. Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned! Euroasian J Hepato-Gastroenterol 2021;11(2):100-102.

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.

A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis.

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare genetic disorder of ketone utilization and isoleucine catabolism caused by mutations in the ACAT1 gene. Here we report the first Sri Lankan case of T2 deficiency confirmed by genetic analysis. A 4-year-old boy presented with the first episode of severe metabolic ketoacidosis after a febrile illness. On admission, the child was drowsy and had circulatory collapse needing intubation. Initial investigations were not detective of a cause and symptomatic management did not improve the condition. During the acute episode, his urine organic acid profile revealed elevations in 3-OH-2-methyl-butyric acid and tiglylglycine whilst 2-methylacetoacetic acid was not detected. The differential diagnoses for the urine organic acid profile included deficiency in T2 or 2-methyl-3-OH-butyryl-CoA dehydrogenase enzymes. Genetic analysis using polymerase chain reaction and DNA sequencing of ACAT1 gene revealed that the proband is homozygous for the novel missense likely pathogenic variant c.152C > T p.(Pro51Leu) confirming the diagnosis of T2 deficiency. This case highlights the importance of suspecting T2 deficiency in the differential diagnosis of pediatric metabolic ketoacidosis in preventing life threatening consequences of an otherwise benign disorder.

Wilson disease in children and adolescents.

Wilson disease (WD) is a rare, recessively inherited disorder of copper metabolism mainly affecting liver and brain. In childhood, it is known to have a predominant hepatic phenotype. It is likely that the low awareness for WD-associated neuropsychiatric signs and symptoms in this age group means that neurological Wilson's disease is underdiagnosed in children and young people. Practitioners should be alert for this complication in children with or without liver disease. Management of children with WD requires a dedicated multidisciplinary approach involving hepatologists, geneticists, neurologists and psychiatrists to ensure subtle neuropsychiatric symptoms are identified early and addressed appropriately. This review highlights recent advances in hepatic and neuropsychiatric symptoms of WD in childhood, specific diagnostic tools and pitfalls and summarises existing and potential future treatment options.

A Case of Dapsone-Induced Severe Agranulocytosis Causing Life-Threatening Skin Sepsis in a Sri Lankan Child with Borderline Leprosy: A Success Story!

Leprosy is a common skin disease in Sri Lanka which is being increasingly diagnosed due to the existing successful public health programme. Dapsone is a drug which holds unique pharmacological properties where it serves as both anti-inflammatory and antimicrobial agents. Of its main adverse effects, agranulocytosis is a serious consequence which is reported mainly in adults and elderly. We report a 7-year-old child who sustained life-threatening skin and subcutaneous tissue sepsis because of dapsone-induced agranulocytosis. Besides, this case highlights the importance of meticulous monitoring of cell counts due to the risk of neutropenia and the natural history of cell recovery following occurrence of neutropenia. Though high mortality rate has been described in most of the similar cases reported, the child we describe made a complete recovery following severe neutropenic sepsis.

Effect of feeding practices on dental caries among preschool children: a hospital based analytical cross sectional study.

Feeding practices during early childhood play an important aetiological role in early childhood caries (ECC). The role of feeding practices in causation of ECC is debated. The objective of this study was to assess the aetiological role of feeding practices on ECC. A descriptive cross sectional study was conducted at a paediatric unit in Sri Lanka. Two hundred and eighty-five children between 36 to 60 months, admitted to the unit were randomly selected for the study. An interviewer administered questionnaire asked about socio-demographic characteristics and feeding practices. The mouths of children were examined for dental caries. Out of 285 children, 61% had exclusive breast feeding up to six months, 69% continued breast feeding beyond two years and 82% had overnight feeding after two years of age. One hundred and thirty-six children (47.7%) had dental caries with a mean deft score of 1.81. Overnight feeding with any type of milk beyond two years significantly increased dental caries incidence and severity. Children exclusively breast fed for six months or had breast feeding beyond two years had a higher prevalence of caries than children not exclusively breast fed or who were not breast feed beyond two years, but the difference was not significant. Overnight feeding with any type of milk beyond two years should be discouraged.

Growth parameters at birth of babies born in Gampaha district, Sri Lanka and factors influencing them.

BACKGROUND: Growth parameters at birth are important for clinical decision-making. In Sri Lanka, the data from the World Health Organization (WHO) Multicentre Growth Reference Study (MGRS) are used to interpret these measurements. MATERIALS AND METHODS: A descriptive cross-sectional study was conducted between September and October 2010 in hospitals of Gampaha district, Sri Lanka. The weight, length and head circumference of all normal-term babies born in the Gampaha district during this period were measured within 8 h of birth using standard techniques. Measurements were taken by medical graduates trained and supervised by a consultant paediatrician. Socio-demographic data were obtained using an interviewer-administered questionnaire. RESULTS: Of the 2215 babies recruited, 1127 were males. The mean birth weight, mean length and mean head circumference at birth were 2.92 kg, 49.1 and 33.6 cm, respectively. Boys weighed and measured more than girls in all parameters, but the differences were not statistically significant. Growth parameters of babies included in this study deviated from that in the MGRS data. Mean values of MGRS data were between 75th and 90th centiles of this study population. Birth order, family income and maternal education were significantly (P < 0.01) associated with growth parameters. Contrary to common belief, growth parameters continued to increase progressively up to 41 weeks. Maternal age less than 20 years or more than 35 years was negatively associated with birth weight (P < 0.01). CONCLUSIONS: Growth parameters of new-born babies deviated significantly from the values of the MGRS data. Growth characteristics of one population may not be applicable to another population due to variations in maternal, genetic and socio-economic factors. Using growth charts not applicable to a population will result in wrong interpretations.

Actual exclusive breastfeeding rates and determinants among a cohort of children living in Gampaha district Sri Lanka: A prospective observational study.

BACKGROUND: Exclusive breastfeeding (EBF) during the early months of life reduce infant morbidity and mortality. Current recommendation in Sri Lanka is to continue exclusive breastfeeding up to six months of age. Exclusive breastfeeding rates are generally assessed by the 24 recall method which overestimates the actual rates. The objective of this study was to determine actual exclusive breast feeding rates in a cohort of Sri Lankan children and to determine the reasons that lead to cessation of breastfeeding before six months of age. METHODS: From a cohort of 2215 babies born in Gampaha district, 500 were randomly selected and invited for the study. They were followed up at two (n = 404), four (n = 395) and six (n = 286) months. An interviewer administered questionnaire asked about feeding history and socio-demographic characteristics. Child health development record was used to assess the growth. RESULTS: Exclusive breastfeeding rates at two, four and six months were 98.0%, 75.4% and 71.3% respectively. The main reasons to stop exclusive breastfeeding between two to four months was concerns regarding weight gain and between four to six months were mothers starting to work. Majority of the babies that were not exclusively breastfed still continued to have breast milk. Mothers above 30 years had lower exclusive breastfeeding rates compared to younger mothers. Second born babies had higher rates than first borns. There was no significant association between maternal education and exclusive breastfeeding rates. CONCLUSIONS: Exclusive breastfeeding rates were high among this cohort of children. A decrease in EBF was noted between two and four months. EBF up to six months does not cause growth failure. Mothers starting to work and concerns regarding adequacy of breast milk were the major reasons to cease EBF. The actual exclusive breastfeeding rates up to six months was 65.9%.

Prevalence of dental caries among a cohort of preschool children living in Gampaha district, Sri Lanka: a descriptive cross sectional study.

BACKGROUND: Dental caries among young children are a global problem. Scant attention is paid towards primary teeth, leading to high prevalence of dental caries. There are only few studies done in Sri Lanka, addressing oral hygiene among preschool children. Scientific evidence is in need to persuade authorities to establish a programme promoting oral hygiene among preschool children. METHODS: A descriptive cross sectional study was conducted in Ragama Medical officer of Health area. Consecutive children between 2 - 5 years of age, attending child welfare clinics were recruited for the study. Practices related to dental hygiene and socio-economic characteristics were obtained using an interviewer administered questionnaire. Mouth was examined for evidence of dental caries. Data collection and examination were done by two doctors who were trained for this purpose. The data were analysed using SSPS version 16. RESULTS: Total of 410 children were included. None had a routine visits to a dentist. Practices related to tooth brushing were satisfactory. Prevalence of dental caries gradually increased with age to reach 68.8% by 5 years. Mean total decayed-extracted-filled (deft) score for the whole sample was 1.41 and Significant caries index (SIC) was 4.09. Decayed tooth were the main contributor for the deft score and Care index was only 1.55. Girls had a significantly higher prevalence of caries than boys. CONCLUSIONS: Dental care provided for Sri Lankan preschool children appears to be unsatisfactory as prevalence of dental caries among this cohort of preschool children was very high. There is an urgent need to improve dental care facilities for Sri Lankan preschool children.

Knowledge and practices related to helminth infections among mothers living in a suburban area of Sri Lanka.

Intestinal helminth infections are a global problem. We assessed maternal knowledge among Sri Lankans about helminth infections and patterns of anthelmintic use to treat their children. We conducted this cross sectional study at the University Pediatric Unit in Teaching Hospital Ragama, during September 2011 to November 2011. Two hundred children admitted to the Pediatric Unit and their mothers were randomly recruited into the study. An interviewer administered questionnaire asking about socio-demographic factors, availability of sanitary facilities and safe drinking water, knowledge about intestinal infections and anthelmintic use. Nearly all the mothers interviewed reported having a safe toilet and 62% reported having safe drinking water. Eighty-four percent of children were given anthelmintic medication periodically irrespective of symptoms. Of these, 39.3% were treated every 3 months, 55.3% every six months and 5.3% annually. Of the children who received routine anthelmintic treatment, 81% had risk factors for helminth infection and 62.5% had evidence of a helminth infection in the past. There was no statistically significant association between routine anthelmintic medicine use and the presence of risk factors (odds ratio 0.28; confidence interval 0.04-1.31) or having symptoms of helminth infection (odds ratio 1.67; CI 0.73-3.8). Maternal knowledge regarding helminth infection was poor. Health education programs regarding helminth infections and their treatment are indicated.

Feeding practices among children attending child welfare clinics in Ragama MOH area: a descriptive cross-sectional study.

BACKGROUND: Feeding during early childhood is important for normal physical and mental growth as well as for health in later life. Currently, Sri Lanka has adopted the WHO recommendation of exclusive breastfeeding for six months, followed by addition of complementary feeds thereafter, with continuation of breastfeeding up to or beyond two years. This study was conducted to evaluate the current feeding practices among Sri Lankan children during early childhood. METHODS: This study was a descriptive cross-sectional study conducted in the Ragama Medical Officer of Health (MOH) area. It was conducted between 10 August 2010 and 30 October 2010. Children between the ages of 24 and 60 months, attending child welfare clinics, were included in the study on consecutive basis. An interviewer-administered questionnaire was used to collect data regarding sociodemographic characteristics and feeding practices. RESULTS: There were 208 boys and 202 girls in the study population. Of them, 255 (62.2%) were exclusively breastfed up to 6 months. Younger children had a statistically significant, higher rate of exclusive breastfeeding compared to older children. Three hundred and fifty one (85.6%) children had received infant formula, and it was started before the age of 6 months in 61 children, and in 212 before one year. Sugar was added to infant formula in 330 (80.4%) children, and out of them 144 had sugar added within first year of life. Complementary foods were started before 4 months in 29 (7%) children. Of the 410 children, 294 (71.7%) were breastfed beyond 2 years and 41.6% of them were breastfed at regular intervals throughout the day. Three hundred and thirty eight (82.6%) children were receiving overnight feeding of either breast milk or infant formula even after 2 years. CONCLUSIONS: Though a high rate of exclusive breastfeeding was observed in this study population, there are many other issues related to feeding during the early years of life that need immediate intervention. Too early introduction of complementary food, using infant formula without an indication, adding sugar to infant formula, too frequent breastfeeding and overnight feeding of older children are among them.