Newborn neurometabolic diseases as a cause of neurodevelopmental disorders

INTRODUCTION: Foetal distress and hypoxic-ischaemic encephalopathy are two of the most frequent causes of neonatal morbidity and mortality. They can be caused by a number of factors. Uterine and intrapartum asphyxia are the two most common causes; nevertheless, there are also other causing factors that are not usually considered, such as inborn errors of metabolism (IEM), for example. Manifestations can be very different, not particularly specific and easily mistaken for the first two situations. The neonatologist and, later, the neuropaediatrician must be familiar with the initial clinical-biochemical presenting symptoms, as they can often mimic the clinical picture of hypoxic-ischaemic encephalopathy or the foetal distress. Once the most common causes have been ruled out and working in collaboration with the clinical biochemist and neuropaediatrician, they will be able to offer guidance on the complex diagnostic and therapeutic approach. In recent years, the combination of the wider experience held by departments and modern laboratory techniques has made it possible to establish much earlier diagnoses and treatments that are of greater benefit to the affected patients. DEVELOPMENT: In this review we analyse the clinical presenting symptoms in a consecutive series of 51 newborn infants with neurological manifestations and who were finally diagnosed with IEM. CONCLUSIONS: The diagnostic approach and prognosis will vary considerably, while genetic counselling can be offered and prenatal diagnosis can sometimes be performed. Unfortunately, the prognosis of IEM with inborn neurological manifestations is still uncertain and the morbidity and mortality rates remain high.