Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report.

Pyridoxine-dependent seizures are a rare cause of recurrent seizures in the neonatal period that are resistant to most of the antiepileptic medications, but respond to pyridoxine. There is a wide spectrum of clinical manifestations, and in the absence of biochemical markers, clinical diagnosis is often delayed. We report a case of neonatal seizures that initially responded to antiepileptic drugs but later presented with intractable seizures and metabolic abnormalities. Clinical exome sequencing was suggestive of ALDH7A1 mutation.

Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems.

A male infant born out of non-consanguineous marriage to a primigravida presented to us as his third hospitalisation with ichthyotic lesions all over the body, cholestatic jaundice, multiple joint contractures and a history of recurrent sepsis. Blood and urine investigations revealed Fanconi syndrome, hypothyroidism and direct hyperbilirubinaemia with elevated liver enzymes and normal gamma glutamyl transpeptidase levels. The combination of arthrogryposis, renal dysfunction and cholestasis led to the suspicion of arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome, which was then proved by genetic testing. The baby was managed conservatively with respiratory support, antibiotics, multivitamins, levothyroxine and other supportive measures but succumbed to the illness on day 15 of hospitalisation. Genetic analysis using next-generation sequencing was confirmatory of a homozygous mutation in VIPAS39 gene leading to ARC syndrome type 2 in the present case. Genetic counselling was provided and prenatal testing was advised to the parents for future pregnancies.

Breastfeeding rates at discharge for very low birthweight neonates and their determinants: An observational study from a tertiary care neonatal intensive care unit in India.

BACKGROUND: Mother's milk is the best milk for neonates. Preterm very low birthweight (VLBW) neonates face many challenges leading to low rates of breastfeeding at discharge. AIMS: (i) To determine the proportion of <32 weeks preterm VLBW neonates who are exclusively breastfed (EB) at discharge and (ii) determinants of exclusive breastfeeding (EBF) at discharge. METHODS: An observational study was conducted for a duration of 1 year, from May 2019 to April 2020 in a tertiary care neonatal intensive care unit (NICU) in North India. Consecutive <32 weeks preterm VLBW neonates admitted within 72 h of birth and on full enteral feeds (FEF) within 10 days of birth were included in this study and followed up till discharge. RESULTS: Forty-four of 97 (45.4%) preterm VLBW neonates were exclusively breastfed and 31/97 (32%) received more than 80% mother's own milk (MOM) at discharge. Male sex (P = 0.03), those whose first feed had any amount of MOM (P = 0.038) or exclusive MOM in their first feed or when initiated on first FEF (P = 0.002), and neonates with longer duration of hospital stay (P = 0.035) had an increased chance of being exclusively breastfed at discharge. CONCLUSION: Preterm VLBW neonates who receive any amount of MOM in their first feed or first FEF, male infants and those who stay longer in hospital are more likely to be exclusively breastfed at discharge.