Hypophosphatasia as a rare cause of neonatal seizures.

Severe forms of hypophosphatasia due to loss-of-function in the ALPL gene may present with diverse neurological problems including pyridoxine-responsive seizures. We present a short report of pyridoxine-responsive neonatal seizures. Due to severe osteopenia with unmeasurable levels of alkaline phosphatase, targeted genetic screening was performed and two pathogenic variants in the gene for the nonspecific alkaline phosphatase confirmed the diagnosis of hypophosphatasia. We would like to emphasize the importance of considering infantile hypophosphatasia in the differential diagnosis of pyridoxine-responsive seizures with concomitant low alkaline phosphatase level and bone pathology, especially with the new treatments becoming available in the future.

Recording conventional and amplitude-integrated EEG in neonatal intensive care unit.

Neonatal electroencephalography (EEG) presents a challenge due to its difficult interpretation that differs significantly from interpretation in older children and adolescents. Also, from the technological point of view, it is more difficult to perform and is not a standard procedure in all neonatal intensive care units (NICUs). During recent years, long-term cerebral function monitoring by the means of amplitude-integrated EEG (aEEG) has become popular in NICUs because it is easy to apply, allows real-time interpretation by the neonatologist treating the newborn, and has predictive value for outcome. On the other side, to record conventional EEG (cEEG), which is still considered the gold standard of neonatal EEG, the EEG technician should not only be well trained in performing neonatal EEG but also has to adapt to suboptimal working conditions. These issues need to be understood when approaching the neonatal cEEG in NICU and the main structure of the article is dedicated to this technique. The authors discuss the benefits of the digitalization and its positive effects on the improvement of NICU recording. The technical aspects as well as the standards for cEEG recording are described, and a section is dedicated to possible artifacts. Thereafter, alternative and concomitant use of aEEG and its benefits are briefly discussed. At the end there is a section that presents a review of our own cEEG and aEEG recordings that were chosen as the most frequently encountered patterns according to Consensus statement on the use of EEG in the intensive care unit.