Morquio syndrome: A radiological diagnosis
Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (MPS). We report here a 7-year-old female child who presented with complaints of short stature, skeletal deformities, a...
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| Main Authors: | , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2015-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (MPS). We report here a 7-year-old female child who presented with complaints of short stature, skeletal deformities, and difficulty in walking with normal intelligence. A clinical diagnosis with differential diagnosis of achondroplasia/rickets was considered. Skeletal survey showed radiological features characteristic of Morquio syndrome (MPS IV) which lead to diagnosis in this case. |
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| Item Description: | 2348-3334 2348-506X 10.4103/2348-3334.165748 |