Back to Search
Start Over
[Mucolipidosis type I. Sialidosis due to alpha-2-6-neuraminidase deficiency with neurological symptoms].
- Source :
-
Archives francaises de pediatrie [Arch Fr Pediatr] 1978 Mar; Vol. 35 (3), pp. 280-91. - Publication Year :
- 1978
-
Abstract
- 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.
- Subjects :
- Child, Preschool
Diagnosis, Differential
Humans
Male
Mannosidases metabolism
Metabolism, Inborn Errors diagnosis
Mucolipidoses complications
Mucolipidoses diagnosis
Mucolipidoses enzymology
Mucolipidoses pathology
Neuraminidase metabolism
Mucolipidoses etiology
Neuraminidase deficiency
Neurologic Manifestations
Subjects
Details
- Language :
- French
- ISSN :
- 0003-9764
- Volume :
- 35
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Archives francaises de pediatrie
- Publication Type :
- Academic Journal
- Accession number :
- 666524