First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene.

Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or retinal degeneration and pyramidal signs. The rate of occurence of HSD is thus far unknown. Progress in DNA diagnostics stirred up a nomenclature and from HSD, or, perhaps better put, the Hallervorden-Spatz syndrome, crystallized the pantothenate kinase-associated neurodegeneration (PKAN) as a clearly defined entity on the level of DNA.

[Central infantile hypotonia syndrome].

Czechoslovak child neurologists devoted much attention to central infantile hypotonic syndrome (CIHS) in a series of investigations conducted in 1959-1986. They found that it is a developmental syndrome caused by affection of the immature brain, and later, at the age of 3-5 years, it disappears or transforms into other syndromes: most frequently cerebellar syndromes and developmental disintegrations (disintegration of the development of the CNS and medium-grade mental retardation). These groups overlap only little.

Development of flexor spastic signs in preterm infants.

Fifty-five preterm infants with birthweights between 800 and 2000g and gestational ages between 25 and 33 weeks were repeatedly examined for the Rossolimo and Mendel-Bechterew lower-limb reflexes. Up to 34 weeks conceptional age (CA) an abduction-extension pattern was characteristic. Between 34 and 36 weeks CA the response changed to one implying flexor spasticity, which in some cases lasted throughout the first postnatal trimester.

Development of flexion pyramidal signs in preterm infants.

Forty-two babies (20 boys, 22 girls) with birthweights from 800g to 2000g and gestational ages between 25 and 40 weeks were followed-up for several weeks with developmental tests and a conventional neurological examination. Here, only the flexion pyramidal signs are evaluated, i. e.