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Mannosidosis

Case: Mannosidosis

Reported by WPCA Winia, Orthopaedic Surgeon, Slotervaart Hospital, Amsterdam

I would like to know if anyone has experience with implanting a THP in a hip destructed by mannosidosis.

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 rheumatologist 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 disappears 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 necessary, 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?

Comments

FROM: Website of the International Society for Mannosidosis & Related Diseases

Skeletal problems:
The skeletal malformation is especially seen in the spine of the chest which may give the patients a rigid and deformed spine and back pain. Further, a less acknowledged complication of the disease is the destruction of the joints, very much resembling the rheumatoid arthritis. The joints might be destructed which together with ataxia may immobilize the patients. This has to be taken into account when planning housing and future jobs. This might occur at older age. Building programs for wheel-chair adapted houses equipped with elevator could secure the diseased an independent life. It is not clear to which degree orthopedic surgery can help. Possibly should less radical procedures (such as temporal epiphysiodesis in the case of genu valgus) be preferred.

Bibliography

Eckhoff DG, et al.Severe destructive polyarthropathy in association with a metabolic storage disease. A case report. J Bone Joint Surg Am. 1992 Sep;74(8):1257-61.

Wall DA, et al. Bone marrow transplantation for the treatment of alpha-mannosidosis. J Pediatr. 1998 Aug;133(2):282-5.

Corresponding Author

WPCA Winia
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