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Mucopolysaccharidosis type I disguised as rickets
Partha Pratim Chakraborty1, Sugata Narayan Biswas1, Sayantan Ray2
1Department of Medicine, Midnapore Medical College & Hospital, Midnapore, West Bengal, India.
BMJ Case Reports
|May 13, 2016
Summary
Mucopolysaccharidosis type I, a rare storage disorder, can mimic vitamin D-resistant rickets in adolescents. Careful examination and skeletal surveys are crucial for accurate diagnosis.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Endocrinology
Background:
- Mucopolysaccharidoses (MPS) are rare genetic disorders.
- Vitamin D-resistant rickets presents with skeletal abnormalities.
- Accurate diagnosis is essential for appropriate management.
Observation:
- A 16-year-old male presented with joint widening and genu valgum.
- Initial treatment for vitamin D-resistant rickets yielded minimal improvement.
- Clinical and skeletal survey findings suggested mucopolysaccharidosis.
Findings:
- Biochemical confirmation identified mucopolysaccharidosis type I.
- Absence of mental retardation is atypical for MPS type I.
- This case highlights diagnostic challenges and differential diagnoses.
Implications:
- Mucopolysaccharidosis type I can be misdiagnosed as vitamin D-resistant rickets.
- Thorough systemic examination and skeletal surveys are vital.
- Spondyloepiphyseal dysplasia should be considered in differential diagnoses.
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