Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills et al. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen with PLP, as well as PLP-responsive infantile spasms.

The Castang Foundation, Bath Unit for Research in Paediatrics, National Institute of Health Research, the Royal United Hospitals Bath NHS Foundation Trust, BRONNER-BENDER Stiftung/Gernsbach, University Children's Hospital Zurich.

AIM The clinical and electrographic signs of hypoxic-ischaemic encephalopathy (HIE) evolve over the first days of life. We examined the evolution of neurological signs over the first 3 days of life, and determined whether serial administration of the Amiel-Tison Neurological Assessment at Term (ATNAT) would predict neurodevelopmental outcome at 24 months. METHOD Term (>37wks' gestation) neonates born with suspected HIE between May 2003 andMay 2005 in a Cork maternity unit were recruited prospectively. Modified Sarnat grading was assigned. The ATNAT was administered on days 1, 2, and 3 of life and a discharge neurological examination. Time to oral feeding and demographic variables were recorded. Developmental status was assessed using the revised Griffiths Mental Development Scales at 6, 12, and 24 months.RESULTS Fifty-seven infants were recruited, with 51 (31 males, 20 females) included for follow-up.Neurological examination evolved and normalized over the first 3 days of life in many cases. At 24 months, 21 children had an adverse outcome, including six deaths. Examination at all time points correlated significantly with neurological outcome at 24 months. The best correlations were found to be (1) neurological examination at discharge (r=0.65, p<0.001), (2) Sarnat grading (r=0.64, p<0.001), and (3) ATNAT on day 3 (r=0.46, p<0.001). The best predictive value was seen with neurological examination at discharge (positive and negative predictive values of 86% and 72% respectively).

Bruising is a presentation that often causes concern. There are many causes of bruising in children, including non-accidental injury, which must be excluded. We report a case of a 22-month-old boy where all the common diagnoses were excluded. We highlight the need to be aware of transient acquired inhibitors of coagulation that can cause spontaneous bleeding.