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Increased cerebellar volume in the early stage of fucosidosis: a case control study

Thomas Kau1, Christoph Karlo, Tayfun Güngör

  • 1Department of Diagnostic Imaging, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland. t.kau@gmx.at

Neuroradiology
|March 9, 2011
PubMed

Insights

Patients with fucosidosis may exhibit enlarged cerebellar volumes in early childhood. This contrasts with later-stage cerebellar atrophy, a unique pattern among metabolic brain disorders.

Area of Science:

  • Neurology
  • Pediatrics
  • Metabolic Disorders

Background:

  • Fucosidosis is a lysosomal storage disease.
  • Early childhood cerebellar enlargement is an unreported observation in fucosidosis.

Purpose of the Study:

  • To quantify the observation of increased cerebellar volumes in early childhood fucosidosis patients.
  • To investigate the developmental trajectory of cerebellar volume in fucosidosis.

Main Methods:

  • Retrospective case-control study including five fucosidosis patients (2-25 months) and 25 controls (0-36 months).
  • Cerebellar volumetry performed using validated software on MRI scans.
  • Statistical analysis using a two-tailed unpaired t-test to compare patient and control cerebellar volumes.

Main Results:

  • Excellent interobserver agreement for volumetric measurements.
  • Fucosidosis patients (mean age 21 months) showed significantly increased cerebellar volumes (121.36 ml) compared to age-matched controls (102.30 ml).
  • Long-term follow-up MRI revealed cerebellar atrophy in one patient at 47 months.

Conclusions:

  • Increased cerebellar volume is an early-stage feature of fucosidosis.
  • The combination of early enlargement and later atrophy is a distinctive characteristic of fucosidosis among metabolic brain disorders.
Abstract

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