Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report.

Nonketotic hyperglycinemia (NKH) is a devastating inborn error of glycine metabolism caused by deficient activity of the glycine cleavage enzyme. Classically, patients present with lethargy, hypotonia, myoclonic jerks, transient respiratory depression in the first week of life and often progress to death. Surviving infants have profound psychomotor retardation, refractory epilepsy and poor quality of life. Currently, no effective therapeutic avenues exist for severe NKH. Ketogenic diet (KD) has been trialled only in a small group of patients with neonatal NKH and early myoclonic encephalopathy, in whom significant improvements in seizure control were reported. We describe an infant with classical neonatal NKH who presented on the third day of life with hypotonia, poor feeding, respiratory insufficiency resulting in ventilatory support and seizures with burst-suppression pattern on electroencephalogram (EEG). KD initiated at age 6 months for intractable seizures, lead to a dramatic decrease in seizure frequency, EEG improvements, normalisation of plasma glycine levels, reduced spasticity and improved quality of life. KD may be a valuable treatment modality for refractory seizure control in classical NKH.

Nutritional assessment of resettled paediatric refugees in Western Australia.

AIM: Nutritional deprivation, inadequate diet and food insecurity are common refugee experiences. The growth and nutritional status of paediatric refugees following resettlement in developed countries and the related interplay with socio-economic factors remain less defined; this study aims to describe these features. METHODS: Standardised dietary, medical and socio-demographic health assessments of new refugee patients attending a multidisciplinary paediatric Refugee Health Service (RHS) in Western Australia between 2010 and 2015 were analysed. RESULTS: Demographic data from 1131 paediatric refugees are described (age 2 months to 17.8 years). The majority experienced socio-economic disadvantage, had limited parental education and required interpreters. Nutritional deficiencies were common but varied across ethnicities: iron deficiency (ID) (12.3%), anaemia (7.3%) and inadequate dairy intake (41.0%). A third of children (32.6%) did not consume meat. Infant breastfeeding was sustained (77.8%) in infants <12 months. Prolonged breastfeeding (44.9% aged 12-24 months) was associated with an increased risk of ID (odds ratio 4.0, 95% confidence interval 1.4-11.6). Median body mass index increased significantly for those >24 months between referral and RHS assessment (median period 1.8 months). Overall, 27.1% required additional formal dietetic follow-up, with higher nutritional concerns in refugee children <24 months compared to older patients. CONCLUSIONS: Identification of frequent post-settlement nutritional concerns has been captured through structured multidisciplinary paediatric health screening. Specific screening for socio-economic influencing factors, including education, poverty and food insecurity, during refugee clinical assessments is recommended. Development of targeted, culturally appropriate parental education resources and interventions may improve management following resettlement. Longitudinal research assessing resettlement growth trajectories is required.