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

Authors

  • Camille Malatt
  • Jeffrey L. Koning
  • John Naheedy

DOI:

https://doi.org/10.3941/jrcr.v9i5.2149

Keywords:

Fucosidosis, lysosomal storage disorder, radiography, skeletal, brain, CT, MRI

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.

Published

2015-05-26

Issue

Section

Pediatric Radiology