[Mucolipidosis type I. Sialidosis due to alpha-2-6-neuraminidase deficiency with neurological symptoms].
A case close to mucolipidosis I was observed and the description of this mucolipidosis has to be revised since there were initially some confusions with mannosidosis. Three types of abnormalities appear to be important in its distinction from the other types of oligosaccharidoses: presence on the fundus of a cherry-red spot; in the bone marrow, reticulo-histiocytic cells, whose central nucleus is surrounded by multiple optically empty droplets; very elective overload of the Kupffer cells. 3a neurological syndrome with cerebellar ataxia appears in the evolution. However, it is not present in our patient nor the electroencephalogram changes. This latter point does not authorize the definite identification of our case with Spranger and Wiedemann description of mucolipidosis I especially as the neuraminidase deficiencies are certainly heterogenous.
D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008361:Mannosidases / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D009081:Mucolipidoses / Q000150:complications / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology* / Q000473:pathology; D009439:Neuraminidase / Q000172:deficiency* / Q000378:metabolism; D009461:Neurologic Manifestations
D008361:Mannosidases; D009439:Neuraminidase
Sialidose par deficit en alpha (2-6) neuraminidase sans atteinte neurologique. Mucolipidose de type I?