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Introduction: Psychogenic non-epileptic seizures (PNES) present difficulties in diagnosis and management and facilities to manage these children vary greatly. Objectives: This study aimed to evaluate the effect of a multi-disciplinary inpatient epilepsy/ neuropsychiatric service in improving outcomes of children with psychogenic non-epileptic seizures. Methods: This retrospective study identifies lessons learnt from managing children with PNES in a specialist inpatient facility in Oxford, United Kingdom over a ten-year period. Forty-two children were identified and categorised into 3 groups: group A (n=21) with one or more epileptic seizures prior to the onset of PNES; group B (n=6) with no epileptic events but interictal EEG showing epileptiform discharge and; group C (n=15) with no prior epileptic events and normal interictal EEGs. All patients received inpatient input for 6-8 weeks from a multidisciplinary team (MDT) led by a neuropsychiatrist and neurophysiologist with special interest in paediatric epilepsy, supported by experienced nurses, psychologists, occupational therapists and hospital schoolteachers. Results: Following initial investigations (including video-telemetry) to exclude organic pathology, a positive diagnosis of PNES was conveyed to the family, followed by several meetings to answer questions and explore non-drug interventions. Psychological therapies involved exploring areas of stress, introducing the ‘idea of gain’ and helping to develop alternative coping mechanisms. Anticonvulsants were gradually withdrawn in many cases. At discharge, episodes of PNES had stopped in the majority of children (20/21 (95%) in group A, 6/6 (100%) in group B and 12/15 (80%) in group C. Conclusion: In our series, the facility of an inpatient epilepsy/neuropsychiatric service allowed for rapid thorough assessment and subsequent successful management of PNES. Early involvement of an MDT allowed children and their parents the space to accept the diagnosis and move forward.

Abstract Background Tetrahydrobiopterin (BH4) deficiencies are disorders affecting phenylalanine homeostasis, and catecholamine and serotonin biosynthesis. GTP-Cyclohydrolase I deficiency (OMIM 600225) is an extremely rare variant of inborn error of BH4 synthesis which exists in recessive and dominant forms. The recessive form presents with complex neurological and autonomic dysfunction whilst the dominant form presents as Dopa-responsive dystonia. Case presentation We describe a South Asian child who initially presented with neurological dysfunction and recurrent vomiting and later developed recurrent hyperthermia for several months. The child did not have screening for hyperphenylalaninemia at birth and was found to have marked hyperphenylalaninemia after clinical presentation at 5 months. Further evaluation revealed BH4 deficiency. GTP-Cyclohydrolase I deficiency (GTPCH) was identified based on normal dihydro pteridine reductase activity and markedly reduced neopterin in dried blood spot test. After institution of treatment and control of high phenylalanine levels, clinical deterioration decelerated yet with noticeable residual neurological dysfunction. Conclusion To authors’ knowledge, this is first report of GTPCH deficiency in a South Asian child. The case highlights practical issues regarding diagnosis of GTPCH deficiency, especially in countries without broader universal newborn screening programs for early detection of inherited metabolic disorders. Testing for GTPCH deficiency should be considered for patients with unexplained neurological and autonomic symptoms following initial metabolic screen.

Abstract Background Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. Case presentation A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. Conclusion The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members.

Abstract Background Dent disease-1 is a rare X-linked recessive renal tubular disorder caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. It is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This is the first report of a CLCN5 pathogenic variant in a Dent disease-1 family of Sri Lankan origin, and it highlights the value of genetic evaluation in children with refractory proteinuria. Case presentation A 2-year-old boy with non-nephrotic range proteinuria was referred for evaluation. His maternally related 24-year-old uncle had been investigated for similar features at the age of 14 years and his renal histology had shown few sclerosed glomeruli. He remained asymptomatic apart from proteinuria. Biochemical investigation of the child showed β-2 microglobulinuria and hypercalciuria. After providing pre-test counseling and obtaining written informed consent, the child, his mother and maternal uncle underwent genetic testing for confirmation of the clinically suspected diagnosis of Dent disease-1. Both the child and his maternal uncle were found to be hemizygous for a nonsense pathogenic variant in exon 9 of the CLCN5 gene [NM_000084.4; c.1399C>T; rs797044811] which results in a stop codon at residue 467, leading to a truncated non-functional protein [NP_000075.1; p.R467X]. His mother was confirmed to be an unaffected heterozygous carrier for the same variant. Following confirmation of the diagnosis our patient was started on thiazide diuretics and potassium citrate. Conclusions Even though the typical phenotype of Dent disease-1 often enables a clinical diagnosis to be made, less severe sub-clinical cases may go undiagnosed. The underlying diagnosis may be missed especially in children who are treated for non-minimal change nephrotic syndrome with steroids. This case highlights the need for tubular proteinuria to be considered in the differential diagnosis of children with refractory proteinuria and for appropriate genetic evaluation to be done to confirm the precise underlying diagnosis in such cases.

Abstract Background Pesticides are identified as one of the dangerous poisons globally in children and are associated with increased short- and long-term morbidity. Pesticide poisoning is the most common method of self-poisoning among adults in rural Sri Lanka, and the clinical management is associated with significant healthcare costs to the country. There is however little data published on acute pesticide poisoning among children in rural Sri Lanka. The current study aimed to comprehensively evaluate clinical profiles, harmful first aid measures, emergency clinical management, complications and outcomes related to acute pesticide poisoning among children in the rural community of Sri Lanka. Methods This multicenter study was conducted in the North Central Province of Sri Lanka involving all children with acute pesticide poisoning and who were between 9 months and 12 years of age. Data were collected over 7 years (2007–2014), and children from 36 hospitals were recruited. Data collection was carried out by pretested, multi-structured, interviewer-administered questionnaires to identify clinical profiles of children, harmful first aid measures, emergency clinical management, reasons for delayed management, complications and outcomes of pesticide poisoning events. Results Among 1621 children with acute poisoning, 9.5% (155) comprised children with acute pesticide poisoning. Male children outnumbered female children, and the majority of children were less than 5 years. Most common pesticides implicated in poisoning of children were organophosphates and carbamates. Gastrointestinal and neurological symptoms were predominant clinical features. Limited transport and lack of concern regarding urgency among caregivers were leading reasons for delayed management. Most common location for poisoning was cultivation lands. Harmful first aid measures were practiced in 32.4%. 7.1% had intentional pesticide poisoning. The case fatality rate of all pesticide poisonings in the study was 1.9%. 58.1% of patients were transferred between regional hospitals and teaching hospital. Cardiac and respiratory arrests, aspiration pneumonia and convulsions were among the reported complications. Conclusions Acute pesticide poisoning in paediatric age group (

Introduction. Kerosene oil poisoning is one of common presentations to emergency departments among children in rural territories of developing countries. This study aimed to describe clinical manifestations, reasons for delayed presentations, harmful first aid practices, complications, and risk factors related to kerosene oil poisoning among children in rural Sri Lanka. Methods. This multicenter study was conducted in North-Central province of Sri Lanka involving all in-patient children with acute kerosene oil poisoning. Data were collected over seven years from thirty-six hospitals in the province. Data collection was done by pretested, multistructured questionnaires and a qualitative study. Results. Male children accounted for 189 (60.4%) while 283 (93%) children were below five years. The majority of parents belonged to farming community. Most children ingested kerosene oil in home kitchen. Mortality rate was 0.3%. Lack of transport facilities and financial resources were common reasons for delayed management. Hospital transfer rate was 65.5%. Thirty percent of caregivers practiced harmful first aid measures. Commonest complication was chemical pneumonitis. Strongest risk factors for kerosene oil poisoning were unsafe storage, inadequate supervision, and inadequate house space. Conclusions. Effect of safe storage and community education in reducing the burden of kerosene oil poisoning should be evaluated. Since many risk factors interact to bring about the event of poisoning in a child, holistic approaches to community education in rural settings are recommended.

Background: This qualitative study presents an in-depth evaluation of the contributory psycho-socio-cultural and physical-economic factors related to paediatric poisoning in rural Sri Lanka. Method: The study was conducted at paediatric wards of Anuradhapura teaching hospital (THA) over a period of two years (2012 – 2014). Main methods of data collection were participants’ narrative and focus group discussions (FGDs). All parents of children with acute poisoning were recruited to FGDs. The structure of phenomena was developed based on descriptive phenomenological inquiries and key themes were identified at data analysis stage. Results: 383 parents participated in focus group discussions. Data were categorized to four domains; (1) parental awareness of poisoning risks, (2) presence of child, parent and environment related risk factors, (3) issues related to first aid care and provision of care until child was brought to emergency care unit, and (4) possible measures to prevent further poisoning. Interaction of multiple risk factors was observed in children with both intentional and unintentional poisoning. Accidental poisonings were associated with certain cultural practices, unsafe environment and unsafe storage of poisons. Children with intentional poisoning frequently had disrupted family relationships. Harmful first aid measures and delayed presentation at the primary care unit had negative impact on poisoning related outcomes. Parents believed community education, safe storage of poisons, and safe environment would likely bring down poison related morbidity. Conclusion: Person, poison and environment related risk factors can lead to acute poisoning emergencies in children in rural Sri Lanka. Often multiple risk factors interact to bring about the poisoning event. Avoidance of harmful first aid measures and early presentation at the primary care unit would bring down poisoning related morbidity. Effect of community education, safe storage of poisons and safe environment should be evaluated in the view of preventing poisoning. [ABSTRACT FROM AUTHOR]

Background. Acute flaccid paralysis is an uncommon, but potentially life threatening, sequel of severe hyperkalemia. Reported primary aetiologies include renal failure, Addison’s disease, potassium sparing diuretics, potassium supplements, and dietary excess. Coconut water, when consumed in excess, has been reported to cause severe hyperkalemia. We report the case of acute ascending flaccid paralysis secondary to hyperkalemia induced by multiple trigger factors—king coconut water, renal failure, diabetes, metabolic acidosis, and potassium sparing diuretics. Case Presentation. A 78-year-old man presented with acute ascending type flaccid paralysis over five-hour duration and subsequently developed preterminal cardiac arrhythmias secondary to severe hyperkalemia (serum potassium: 7.02 mEq/L). He was on Losartan and Spironolactone for ischemic heart disease. Dietary history revealed excessive intake of king coconut water (Cocos nucifera) over past one week. Electrocardiogram returned to normal rhythm and serum potassium was 6.1 mEq/L within 2 hours of institution of emergency management for life threatening hyperkalemia. Neurological symptoms completely recovered within twenty-four hours without the need for dialysis. Electromyogram three days after the initial presentation revealed normal findings. Conclusions. The report describes a rare case of secondary hyperkalemic flaccid paralysis induced by multiple trigger factors. It is important that patients with risk factors for hyperkalemia are educated regarding avoiding excess dietary potassium. Regular follow-up of these patients is mandatory with review of medication related side effects and serum electrolytes.

Plant poisoning is a common presentation in paediatric practice and an important cause of preventable mortality and morbidity in Sri Lanka. The burden of plant poisoning is largely underexplored. The current multicenter study based in rural Sri Lanka assessed clinical profiles, poison related factors, clinical management, complications, outcomes, and risk factors associated with plant poisoning in the paediatric age group. Among 325 children, 57% were male with 64% being below five years of age. 99.4% had ingested the poison. Transfer rate was 66.4%. Most had unintentional poisoning. Commonest poison plant was Jatropha circus and poisoning event happened mostly in home garden. 29% of parents practiced harmful first-aid practices. 32% of children had delayed presentations to which the commonest reason was lack of parental concern regarding urgency of seeking medical care. Presence of poisonous plants in home garden was the strongest risk factor for plant poisoning. Mortality rate was 1.2% and all cases had Oleander poisoning. The study revealed the value of community awareness regarding risk factors and awareness among healthcare workers regarding the mostly benign nature of plant poisoning in children in view of limiting incidence of plant poisoning and reducing expenditure on patient management.

Background. Acute poisoning in children is a major preventable cause of morbidity and mortality in both developed and developing countries. However, there is a wide variation in patterns of poisoning and related risk factors across different geographic regions globally. This hospital based case-control study identifies the risk factors of acute unintentional poisoning among children aged 1−5 years of the rural community in a developing Asian country. Methods. This hospital based case-control study included 600 children. Each group comprised three hundred children and all children were recruited at Anuradhapura Teaching Hospital, Sri Lanka, over two years (from February 2012 to January 2014). The two groups were compared to identify the effect of 23 proposed risk factors for unintentional poisoning using multivariate analysis in a binary logistic regression model. Results. Multivariate analysis identified eight risk factors which were significantly associated with unintentional poisoning. The strongest risk factors were inadequate supervision (95% CI: 15.4–52.6), employed mother (95% CI: 2.9–17.5), parental concern of lack of family support (95% CI: 3.65–83.3), and unsafe storage of household poisons (95% CI: 1.5–4.9). Conclusions. Since inadequate supervision, unsafe storage, and unsafe environment are the strongest risk factors for childhood unintentional poisoning, the effect of community education to enhance vigilance, safe storage, and assurance of safe environment should be evaluated.