[Generalized infantile neuroaxonal dystrophies with pigmentation and lipophanerosis of the pallidum in concordant twins (author's transl)].
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).
D001369:Axons / Q000648:ultrastructure; D001927:Brain Diseases / Q000235:genetics*; D002540:Cerebral Cortex / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D004200:Diseases in Twins; D005260:Female; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008526:Medulla Oblongata / Q000648:ultrastructure; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D011247:Pregnancy; D014430:Twins, Monozygotic
Generalisierte infantile neuroaxonale Dystrophie mit Pallidumpigmentation und -lipophanerose bei einem eineiigen Zwillingspaar