Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy.

[Characteristics of the effect of a constant electromagnetic field on reparative processes in spinal cord injuries].

In 171 white rats the spinal cord was completely sectioned in the upper thoracic region. In 46 control rats an early crude spinal cord scar was identified which precluded the growth of nervous fibers. On the contrary, in animals exposed to constant magnetic field a smooth spinal cord scar was found with collaterals of anterior spinal arteria, recrease of the destruction zone and nervous fiber growth across the scar, This resulted in restored hind paw motility by 56 +/- 4.

[Urologic complications and mortality among spinal cord injury patients].

The direct causes of death of 73 patients in different periods after injuries to the spinal cord are analysed. Two groups of the decreased are distinguished depending on the results of pathological examination: those with marked neurodystrophic and inflammatory changes in the organs of the urinary system which had not been the direct cause of death, and individuals in whom death had been caused by urological complications. These complications were the direct cause of death of 49.