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

Camille Malatt1, Jeffrey L Koning2, John Naheedy3

  • 1University of California San Diego School of Medicine, La Jolla, California, USA.

Journal of Radiology Case Reports
|December 2, 2015
PubMed

Insights

Fucosidosis, a rare genetic disorder, presents with developmental delay and distinct skeletal and brain abnormalities. This case highlights key clinical and imaging findings for diagnosing this lysosomal storage disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Fucosidosis is a rare lysosomal storage disorder.
  • It results from a deficiency in the enzyme alpha-L-fucosidase.
  • This deficiency leads to the accumulation of fucose-containing glycolipids.

Observation:

  • A case of a 4-year, 11-month-old girl with developmental delay is presented.
  • Skeletal abnormalities included lumbar kyphosis, anterior beaking of vertebral bodies, iliac segment constriction, acetabular roof abnormalities, and rib widening.
  • Brain MRI revealed symmetric T1 hyperintensity and T2 hypointensity in the globi pallidi.

Findings:

  • The study details the clinical presentation of a child with fucosidosis.
  • Radiographic findings include specific spinal and abdominal X-ray abnormalities.
  • Characteristic MRI findings in the basal ganglia are highlighted.

Implications:

  • Early diagnosis of fucosidosis is crucial for management.
  • Recognizing these imaging findings aids in the diagnosis of rare genetic disorders.
  • This case contributes to understanding the phenotypic spectrum of fucosidosis.

Keywords:
CTFucosidosisMRIbrainlysosomal storage disorderradiographyskeletal

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