Mannosidosis - Contents | Cases | Comments | Bibliography

Mannosidosis

Cases

This is a rare disease, where, because of defective mannisidase, normal degradation of glycoproteins is not possible. This causes (among others) mental retardation, skeletal problems and joint destruction. This joint destruction is said to be resembling rheumatoid arthritis. Our reumatologist presented me a 19 year old girl with a destructed right hip and severe pain. As you can see from the X-rays, it took some years to develop, and it looks to me that the pathology lies primarily in the bone of the acetabulum: The bone gradually disapears while the joint space in the beginning is not narrowed.(Not like RA) Since her life expectancy is limited and she is very disabled, a THP seems to be the only option. A large homologous bone graft (impaction grafting) will be nessesary, and I think there are two problems: 1 Will the bonegraft heal in this abnormal bone? 2 Will the implanted bone stay normal, or also become abnormal?

Does anyone has experience with orthopaedic surgery in patients with mannosidosis? WPCA Winia Orthop Surgeon Slotervaart hospital Amsterdam