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

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 an...

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Bibliographic Details
Published in:Journal of radiology case reports 2015-05, Vol.9 (5), p.30-38
Main Authors: Malatt, Camille, Koning, Jeffrey L, Naheedy, John
Format: Article
Language:English
Subjects:
Acetabulum - diagnostic imaging
Brain - pathology
Child, Preschool
Developmental Disabilities - etiology
Diagnosis, Differential
Female
Fucosidosis - complications
Fucosidosis - diagnostic imaging
Fucosidosis - pathology
Humans
Ilium - diagnostic imaging
Lumbar Vertebrae - diagnostic imaging
Magnetic Resonance Imaging
Pediatric Radiology
Prognosis
Ribs - diagnostic imaging
Tomography, X-Ray Computed
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Summary: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.
ISSN:1943-0922
1943-0922
DOI:10.3941/jrcr.v9i5.2149