title: [Infantile generalized ceroid-Lipofuscinosis (type Hagberg-Santavuori). A new case and a retrospective study of two observations (author's transl)].
abstract: Three post mortem studies of cases of infantile generalized ceroid-lipofuscinosis are reported: two of them were published under other classifications but our retrospective study warrants their inclusion in the infantile group of ceroid-lipofuscinosis. The children died at the respective ages of 4, 5 8/12 and 8 years and this allows interesting morphological comparisons: 1 degree there is an increasingly severe loss of cortical neurons, of Purkinje cells and of neurons in the griseum pontis with age. Intracytoplasmic inclusions mainly of a granular osmiophilic nature were found in all other neurons and glial cells; 2 degrees the involvement of the visceral organs is especially striking and permits an easier diagnosis under light microscopy, unlike the late infantile and juvenile forms of ceroid-lipofuscinosis. Electron microscopy supports the observation by Anzil et al. (1975) concerning the relative pleiomorphism of the inclusions; 3 degree the diffuse accumulation of inclusions in the skin and its appendages ensures a rapid diagnosis by skin biopsy.
mesh_terms: D000367:Age Factors; D002525:Cerebellar Cortex / Q000648:ultrastructure; D002540:Cerebral Cortex / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007678:Kidney Glomerulus / Q000648:ultrastructure; D008064:Lipidoses / Q000473:pathology*; D008297:Male; D009132:Muscles / Q000648:ultrastructure; D011689:Purkinje Cells / Q000648:ultrastructure; D012584:Sciatic Nerve / Q000648:ultrastructure; D012867:Skin / Q000648:ultrastructure; D013788:Thalamus / Q000648:ultrastructure
vernacular_title: La céroïdo-lipofuscinose infantile généralisée (type Hagberg-Santavuori). A propos d'une nouvelle observation et de I'étude rétrospective de deux autres cas