[Neonatal hypoxic ischemic encephalopathy. Progress and new treatments according to the pathophysiological basis of the injury].

Neonatal hypoxic ischemic encephalopathy (HIE) is a type of injury caused by lack of oxygen in the brain during the neonatal period. It is a clinical syndrome clearly recognizable in term and premature newborns secondary to asphyxia at the time of delivery. HIE is estimated to occur at a frequency of 1-3 for each 1000 alive newborns per year in developed countries.

[Treatment of neonatal seizures].

Neonatal seizures are among the most dramatic manifestations of acute central nervous system dysfunction. The incidence is much higher in very low weight neonates than in full term infants (˜ 58 and 3.5 per 100 live births, respectively).

Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain.

Insensitivity to pain is a rare disorder that is commonly associated with Hereditary Sensory and Autonomic Neuropathies (HSAN I-V) resulting often in autonomic dysfunction and premature death. Very few individuals have been reported with pain insensitivity lacking such autonomic neuropathies. We performed genetic, neurologic, psychological, and psychophysical evaluations in such an individual (OMIM 243000) and her first degree relatives.

Combined treatment with BTX-A and ITB for spasticity: case report.

One woman with profound mental retardation and spasticity living in a public residential developmental center was treated with intrathecal baclofen therapy and botulinum toxin type A injections. After one year of regular injections, extension across the right elbow increased 49 degrees. After one year of ITB, range of motion for left hip abduction increased 28 degrees; right hip abduction 9 degrees; left hip flexion 3 degrees; right hip flexion 1 degree; right knee flexion 31 degrees.

Partial epilepsy presenting as apneic seizures without posturing.

Apnea is a symptom present in many conditions. During the neonatal period, apnea has been associated with epileptiform activity in the absence of posturing. However, the occurrence of apneic seizures without posturing beyond the neonatal period is an uncommon presentation for partial epilepsy.