[Generalized infantile neuroaxonal dystrophies with pigmentation and lipophanerosis of the pallidum in concordant twins (author's transl)]

Neuropadiatrie. 1976 Aug;7(3):327-50. doi: 10.1055/s-0028-1091634.
[Article in German]

Abstract

Monozygotic male twins died at the age of 6 1/2 and 7 1/2 years respectively after a progressive course of mental deterioration, hypotonia, spasticity, optic atrophy and seizures that had commenced at the age of 2 years. Both patients showed generalized neuroaxonal dystrophy (NAD), marked by numerous spheroids, iron-positive pigment and lipophanerosis of the pallidum. NAD can be classified as a generalized form without pigmentation of the pallidum (infantile type of Seitelberger), a juvenile type of Rozdilsky, a generalized form with pigmentation (cases described here), and localized forms (infantile, late infantile, juvenile = classic Hallervorden-Spatz disease, adult types).

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Axons / ultrastructure
  • Brain Diseases / genetics*
  • Cerebral Cortex / pathology
  • Cerebral Ventricles / pathology
  • Child
  • Diseases in Twins*
  • Female
  • Globus Pallidus / pathology
  • Humans
  • Inclusion Bodies / ultrastructure
  • Male
  • Medulla Oblongata / ultrastructure
  • Pantothenate Kinase-Associated Neurodegeneration / genetics*
  • Pantothenate Kinase-Associated Neurodegeneration / pathology
  • Pantothenate Kinase-Associated Neurodegeneration / physiopathology
  • Pregnancy
  • Twins, Monozygotic