Pyridoxine-dependent epilepsy (PDE) is an inborn error of metabolism resulting from antiquitin deficiency. There is marked elevation of α-amino adipic semi-aldehyde (αAASA), piperidine-6-carboxylate (P6C) and pipecolic acid. The diagnosis can be confirmed by identifying the mutation in the ALDH7A1 gene in chromosome 5q3l. An 8-year-old Indian girl presented with severe developmental delay and seizures and was found to have pyridoxine-dependent epilepsy owing to an antiquitin mutation. Genetic evaluation of the parents allowed antenatal diagnosis to be made during the next pregnancy.
Megaloblastic anaemia is one of the important causes of pancytopenia in children and nutritional deficiencies of vitamin B12 and folate are the most common causes comprising 95% of these cases. Defects in absorption, transport and metabolism of vitamin B12 are well described, however, are very rare. We report a rare case of Imersland Grasbeck syndrome, in an infant who presented with pancytopenia, with defective absorption of B12-intrinsic factor complex at the ileum and defective tubular reabsorption of proteins in renal tubule due to same protein defect caused by mutations in two genes – CUBN (cubilin) and AMN (amnionless).
Background: Pre-term births are associated with increased risk of various morbidities, especially neurological. Early detection and early intervention to prevent these morbidities will have immediate and long-term benefits to the individuals and society at large. However, the screening and assessment tools, including both clinical and radiological, are not uniformly available in resource-poor settings. The present study was carried out to evaluate the validity of the clinical screening tools for detecting neurodevelopmental delay among very-low-birth-weight (VLBW) pre-term babies.Methods: This prospective observational study was undertaken in the child development unit of a tertiary care hospital from July 2015 to October 2017. All pre-term VLBW neonates admitted in level III Neonatal Intensive Care within the first 24 hours of life were included in the study. They were subjected to Hammersmith Neonatal Neurological Examination (HNNE) and magnetic resonance imaging (MRI) of brain at term-equivalent age. Subsequently, the same group was followed up with Amiel-Tison (AT) angles, Child Development Centre (CDC) grading for sitting developed at Trivandrum, Kerala, India, and Denver Development Screening Test (DDST-II gross motor) at eight months corrected age, and their outcomes were analyzed.Results: 17.9% of the ex-preterm were abnormal as per HNNE evaluation at term-corrected age. At shortterm follow-up screening, 13.8% were found to be abnormal based on AT angles, while 35.2% were found to be abnormal as per CDC grading and 30.4% were found to have risk for delay as per DDST-II (gross motor). A high level of sensitivity (93.6%) and positive predictive value (91.2%) was observed for HNNE at term equivalent with MRI brain assessment considered as gold standard. Among the follow-up screening tools, CDC grading for sitting, AT angles, and DDST-II had high sensitivity (>85%). Conclusion:The combination of HNNE along with radiological assessment at term-corrected age can be considered as appropriate for predicting long-term neurodevelopmental outcome in VLBW pre-term infants. During follow-up, simple tools like CDC grading for motor milestones, AT angles, and DDST-II may be utilized if facilities for standard assessment are not available as in resource-poor settings.
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