[Infantile form of Hallervorden-Spatz disease (author's transl)].
The authors report the evolution since birth of a third patient belonging to a sibship affected by the infantile form of Hallervorden-Spatz disease. The diagnosis has been histologically proven in each case. Due to a lack of full clinical reports in the available literature, the emphasis has mainly been placed on the complex extrapyramidal syndrome characteristic of this disorder and illustrated by our own cases. We stree here the occurrence of extrapyramidal fits with exceptionally severe hemiballic movements and torsion spasms. Moreover the clinical signs and their succession in time are strikingly similar in our three patients. Our main purpose is to document accurately the early stages of this disorder; they are characterized by a non-specific spastic diplegia associated with mental retardation. There is a progressive but incomplete improvement during the following years. Thereafter the extrapyramidal syndrome appears. It is to early to decide whether all the infantile cases of Hallervorden-Spatz disease do indeed present a diphasic evoluation because our third patient is the only one to have been followed up since birth; relevant data are scarcely available in the other reported cases. On the other hand, it is correct to state that a spastic diplegia with mental retardation under the age of two--provided a perinatal anoxic excephalopathy has been ruled out--can lead to a wide range of conditions from normality to a neurological disorder as severe as the one reported here.
D000367:Age Factors; D001480:Basal Ganglia Diseases / Q000503:physiopathology; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics*; D006801:Humans; D008297:Male; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
Forme infantile de la maladie de Hallervorden-Spatz. Etude anatomo-clinique de la troisième observation de la fratrie D.B