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

  • Paediatric Neuroradiology
  • Published:
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Abstract

Introduction

Yet unreported in this lysosomal storage disease, we aimed to quantify our observation that patients with fucosidosis may show abnormally increased cerebellar volumes during early childhood.

Methods

Five normocephalic fucosidosis patients (age range 2–25 months, three males) were included in this retrospective case control study. The control cohort consisted of 25 children (age range 0–36 months, 15 males). Image postprocessing was performed independently by two radiologists. Using validated software, manual tracing of contours on contiguous sagittal magnetic resonance images was allowed for cerebellar volumetry. We tested the null hypothesis that mean cerebellar volumes of four fucosidosis patients (age 16, 20, 21, and 25 months) and of an age-matched control cohort (n = 8, age range 13–26 months) were equal based on a two-tailed unpaired t-test.

Results

Interobserver agreement was excellent (R = 1, p < 0.01). A rough trajectory of normal cerebellar development appeared to flatten around the age of 1 year. With mean volumes of 121.36 and 102.30 ml, respectively, cerebellar volumes of fucosidosis patients with a mean age of 21 months were significantly increased compared to age-matched controls (p < 0.05). In a single patient, longer-term follow-up with MRI at the age of 47 months was available and showed cerebellar atrophy.

Conclusion

Increased cerebellar volume was shown to be an additional feature in the early stage of fucosidosis. The combination with a confirmed tendency toward atrophy of the cerebellum during later course of the disease is probably unique in the context of metabolic disorders of the brain.

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Acknowledgments

We would like to acknowledge Prof. Dr. Philippe Maeder, Prof. Dr. Reto Meuli, Dr. Patric Hagmann, PD Dr. Luisa Bonafé, and Dr. D. Ballhausen from Centre Hospitalier Universitaire Vaudois Lausanne for kindly providing imaging and clinical data. Furthermore, we are thankful to Mrs. Hadwig Speckbacher, Mrs. Martina Studhalter, and Mrs. Leila Thalparpan-Pajunen for their technical help with this study.

Conflict of interest

We declare that we have no conflict of interest.

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Authors and Affiliations

  1. Department of Diagnostic Imaging, University Children’s Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Thomas Kau, Christian J. Kellenberger & Ianina Scheer

  2. Institute of Diagnostic and Interventional Radiology, University Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Christoph Karlo

  3. Division of Immunology and Bone Marrow Transplantation (BMT), University Children’s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Tayfun Güngör

  4. Department of Pediatrics, Klinikum Karlsruhe, Karlsruhe, Germany

    Viola Prietsch

  5. Department of Pediatric Neurology, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Eugen Boltshauser

  6. Department of Diagnostic Imaging, University Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Christoph Karlo

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  1. Thomas Kau
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  2. Christoph Karlo
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  3. Tayfun Güngör
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  4. Viola Prietsch
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  5. Christian J. Kellenberger
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  7. Eugen Boltshauser
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Correspondence to Thomas Kau.

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Kau, T., Karlo, C., Güngör, T. et al. Increased cerebellar volume in the early stage of fucosidosis: a case control study. Neuroradiology 53, 509–516 (2011). https://doi.org/10.1007/s00234-011-0855-1

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  • DOI: https://doi.org/10.1007/s00234-011-0855-1

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