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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.

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.

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.