Onset of adreno-leukodystrophy after medulloblastoma therapy

Causal connection or coincidence?

G. Deib, A. Poretti, A. Meoded, K. J. Cohen, G. V. Raymond, Minnie Abromowitch, T. A.G.M. Huisman

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

X-linked adreno-leukodystrophy (ALD) is a peroxisomal disorder affecting the white matter of the central nervous system and the adrenal cortex. It is caused by mutations in the ABCD1 gene encoding for a peroxisomal membrane protein. The absent genotype–phenotype correlation implies a contribution by environmental factors to explain the phenotypical heterogeneity. We report on a 4-year-old boy with a biochemically confirmed diagnosis of ALD after birth. At the age of 32 months, the additional diagnosis of a medulloblastoma was made. After treatment of the medulloblastoma, he developed active areas of demyelination representing the characteristic neuroimaging features of ALD. The clinical history of our patient supports the hypothesis that external factors, like neurosurgical intervention as part of medulloblastoma treatment, may accelerate or initiate cerebral ALD-related demyelination. A postsurgical inflammatory reaction may facilitate the inclusion of abnormal fatty acids in myelin. The opening of the blood–brain barrier following neurosurgery may enhance the recognition of previously sequestered antigens considered to play a role in ALD onset. Consequently, neurosurgical disruption of the BBB can precipitate the immune-mediated inflammatory process, which progressively destroys myelin in ALD patients. Tumor-related chemotherapy and/or radiotherapy may also play a contributing role. We suggest that X-ALD patients who undergo neurosurgical intervention need close follow-up imaging to identify active demyelination early.

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages29-32
Number of pages4
DOIs
StatePublished - Jan 1 2012

Publication series

NameJIMD Reports
Volume2
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Fingerprint

Medulloblastoma
Demyelinating Diseases
Neuroimaging
Myelin Sheath
Neurosurgery
Precipitins
Gene encoding
Chemotherapy
Radiotherapy
Neurology
Peroxisomal Disorders
Tumors
Membrane Proteins
Fatty Acids
Adrenal Cortex
Imaging techniques
Antigens
Therapeutics
Central Nervous System
History

Keywords

  • Active demyelination
  • Head trauma
  • Peroxisomal disorder
  • Peroxisomal membrane protein
  • Phenotypical heterogeneity

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

Cite this

Deib, G., Poretti, A., Meoded, A., Cohen, K. J., Raymond, G. V., Abromowitch, M., & Huisman, T. A. G. M. (2012). Onset of adreno-leukodystrophy after medulloblastoma therapy: Causal connection or coincidence? In JIMD Reports (pp. 29-32). (JIMD Reports; Vol. 2). Springer. https://doi.org/10.1007/8904_2011_39

Onset of adreno-leukodystrophy after medulloblastoma therapy : Causal connection or coincidence? / Deib, G.; Poretti, A.; Meoded, A.; Cohen, K. J.; Raymond, G. V.; Abromowitch, Minnie; Huisman, T. A.G.M.

JIMD Reports. Springer, 2012. p. 29-32 (JIMD Reports; Vol. 2).

Research output: Chapter in Book/Report/Conference proceedingChapter

Deib, G, Poretti, A, Meoded, A, Cohen, KJ, Raymond, GV, Abromowitch, M & Huisman, TAGM 2012, Onset of adreno-leukodystrophy after medulloblastoma therapy: Causal connection or coincidence? in JIMD Reports. JIMD Reports, vol. 2, Springer, pp. 29-32. https://doi.org/10.1007/8904_2011_39
Deib G, Poretti A, Meoded A, Cohen KJ, Raymond GV, Abromowitch M et al. Onset of adreno-leukodystrophy after medulloblastoma therapy: Causal connection or coincidence? In JIMD Reports. Springer. 2012. p. 29-32. (JIMD Reports). https://doi.org/10.1007/8904_2011_39
Deib, G. ; Poretti, A. ; Meoded, A. ; Cohen, K. J. ; Raymond, G. V. ; Abromowitch, Minnie ; Huisman, T. A.G.M. / Onset of adreno-leukodystrophy after medulloblastoma therapy : Causal connection or coincidence?. JIMD Reports. Springer, 2012. pp. 29-32 (JIMD Reports).
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