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Phenotypic variability of mannosidosis type II: report of two Greek siblings
H Michelakakis1, E Dimitriou, C Mylona-Karayanni
1Department of Enzymology and Cell Function, P. & A. Kyriakou Children's Hospital, Athens, Greece.
Abstract:
Two patients, a 13-year-old boy and his 24-year-old sister, were diagnosed as mannosidosis type II cases, on the basis of both presenting extremely reduced plasma and white blood cell acid-alpha-mannosidase are reported. With the exception of mental retardation and neurosensory deafness the two siblings manifested a wide phenotypic variability. The boy had several facial features indicating a lysosomal storage disorder, as well as spondylolisthesis. His sister, apart from heavy eyebrows and lower jaw prognathism appeared normal.
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