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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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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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creator	Malatt, Camille Koning, Jeffrey L Naheedy, John
description	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.
doi_str_mv	10.3941/jrcr.v9i5.2149
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source	PubMed Central; EZB Electronic Journals Library
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
title	Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder
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