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From the manuscript

Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder

Free full text article: Skeletal and Brain Abnormalities in Fucosidosis,  a Rare Lysosomal Storage Disorder

Abstract
Fucosidosis is a rare genetic lysosomal storage disorder caused by a deficiency in alpha- L-fucosidase. We present a case of a 4-year, 11-month-old girl with developmental delay, as well as skeletal and brain abnormalities as shown on X-ray and MRI. Her spinal X- rays demonstrated lumbar kyphosis and anterior beaking of lumbar vertebral bodies. Lower iliac segment constriction, increased angulation of the acetabular roof, and widening of the ribs were apparent on abdominal X-ray. Her brain MRI illustrated symmetric T1 hyperintensity and T2 hypointensity of the bilateral globi pallidi. The case report highlights clinical and imaging findings of this rare disease.






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1. Fucosidosis

2. lysosomal storage disorder

3. radiography

4. skeletal

5. brain

6. CT

7. MRI


This article belongs to the Pediatric section.


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