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Cemented total hip arthroplasty in a patient with alpha-mannosidosis: a case report
Aravind S Desai1, Asterios Dramis, Timothy N Board
1Centre for Hip surgery, Wrightington Hospital, Wigan, UK. desaiaravind@yahoo.co.uk
Abstract:
Mannosidosis is an extremely rare genetic disease occurring due to deficiency of the lysosomal enzyme, alpha-mannosidase. Patients with this disorder often suffer from musculoskeletal abnormalities and muscular weakness leading to joint destruction and severe morbidity along with other major systems involvement. We present here such a case of a 27-year-old male that highlights the challenges in management of hip joint destruction secondary to Mannosidosis.
Insights
Mannosidosis, a rare genetic disorder from alpha-mannosidase deficiency, causes severe joint destruction. This case highlights the complex management of hip joint damage in affected adults.
Area of Science:
- Biochemistry
- Genetics
- Orthopedics
Background:
- Mannosidosis is an ultra-rare lysosomal storage disease caused by alpha-mannosidase deficiency.
- It leads to progressive multisystemic complications, including severe musculoskeletal abnormalities.
Observation:
- A 27-year-old male patient presented with significant hip joint destruction.
- Musculoskeletal abnormalities and muscular weakness were prominent features.
Findings:
- The case illustrates the profound impact of Mannosidosis on joint integrity.
- Management challenges associated with advanced hip destruction in this condition were observed.
Implications:
- This case underscores the need for early diagnosis and comprehensive management strategies for Mannosidosis.
- Further research into therapeutic interventions for skeletal complications is warranted.
