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Updated: Feb 23, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Laura A Adang1, Omar Sherbini2, Laura Ball3

  • 1Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Molecular Genetics and Metabolism
|September 3, 2017
PubMed

Insights

Leukodystrophies are rare genetic disorders affecting central nervous system myelination. This report outlines a systems-based approach to managing common symptoms and complications, prioritizing patient comfort and quality of life.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Leukodystrophies encompass diverse genetic disorders impacting central nervous system myelination.
  • Despite varied etiologies, common symptoms necessitate standardized management strategies.
  • Focusing on quality of life is crucial alongside curative treatment research.

Framework:

  • A systems-based approach to managing leukodystrophy complications.
  • Standardized evaluation and identification of prevalent medical issues.
  • Comprehensive care planning integrating management options.

Implementation:

  • Addressing common medical issues across different leukodystrophies.
  • Specific focus on gallbladder pathology and adrenal insufficiency.
  • Utilizing existing studies and expert consensus for recommendations.

Implications:

  • Establishing a standardized care model for leukodystrophy patients.
  • Highlighting the need for evidence-based research on treatment outcomes.
  • Improving the overall management and quality of life for affected children.

Keywords:
CareConsensusLeukodystrophyOutcomesPreventionTherapy

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