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Canine fucosidosis: clinical findings
Author(s) -
TAYLOR R. M.,
FARROW B. R. H.,
HEALY P. J.
Publication year - 1987
Publication title -
journal of small animal practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.7
H-Index - 67
eISSN - 1748-5827
pISSN - 0022-4510
DOI - 10.1111/j.1748-5827.1987.tb03883.x
Subject(s) - medicine , autopsy , pathological , pathology , lysosomal storage disease , palpation , clinical significance , disease , cerebrospinal fluid , bone marrow , surgery
The clinical course of canine fucosidosis, a neurovisceral lysosomal storage disease, is described from observations of 31 affected English Springer Spaniels. The diagnosis of fucosidosis was suggested by the development of multifocal neurological signs in the second year of life and confirmed by a deficiency of alpha‐L‐fucosidase activity in plasma and leucocytes. The progressive motor and mental deterioration was similar in all dogs and no affected animal survived to four years of age. Alpha‐L‐fucosidase activity in plasma was <0·05 μ/1 in all cases. The activity in leucocytes and other tissues was < 5 per cent of that of normal dogs. Vacuolated leucocytes occurred in cerebrospinal fluid, blood and bone marrow. The enlargement of peripheral nerves which is observed at autopsy could be detected by palpation of the ulnar nerve in advanced disease, however the results of electrodiagnostic studies were within normal limits. The clinical signs and pathological changes were found to be remarkably consistent from case to case making it an excellent model for investigating therapeutic strategies in human lysosomal storage disorders.