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Journal of Pediatric Neurology 2020; 18(02): 106-109
DOI: 10.1055/s-0039-1677805
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Rare Spontaneous Attenuation of Childhood Inflammatory Cerebral Adrenoleukodystrophy

Hyoung Won Choi
1   Division of Pediatric Neurology, Department of Neurology, University of Minnesota, Minneapolis, Minnesota, United States
,
Gerald Vincent Raymond
2   Division of Pediatric Neurology, Department of Pediatrics and Neurology, Penn State University, Hershey, Pennsylvania, United States
,
Weston Miller
3   Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, United States
› Author Affiliations
Further Information

Publication History

14 November 2018

02 January 2019

Publication Date:
29 January 2019 (online)

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Abstract

X-linked adrenoleukodystrophy (ALD) is a neurodegenerative peroxisomal disorder with variable clinical phenotypes. Childhood cerebral ALD (CCALD) is at the most severe end of the disease spectrum. In CCALD, the clinical manifestations include increasing deficits in behavior, vision, hearing, coordination, and motor function, as well as seizures. Without treatment, CCALD often results in apparent vegetative state within 1 to 2 years of appearance of initial signs and symptoms. We present the case of a boy with classic inflammatory CCALD who exhibited spontaneous attenuation in disease progression. While extremely rare, spontaneous arrest of disease progression may occur in boys with inflammatory CCALD.

Keywords

cerebral adrenoleukodystrophy - inflammatory - spontaneous arrest
 

  • References

  • 1 Moser HW, Moser AB, Smith KD. , et al. Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis 1992; 15 (04) 645-664
    CrossrefPubMedSearch in Google Scholar
  • 2 Raymond GV, Moser AB, Fatemi A. X–Linked adrenoleukodystrophy. GeneReviews. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1315/ . Accessed November 5, 2018
    PubMed
  • 3 Moser HW, Naidu S, Kumar AJ, Rosenbaum AE. The adrenoleukodystrophies. Crit Rev Neurobiol 1987; 3 (01) 29-88
    PubMedSearch in Google Scholar
  • 4 Berger J, Forss-Petter S, Eichler FS. Pathophysiology of X-linked adrenoleukodystrophy. Biochimie 2014; 98: 135-142
    CrossrefPubMedSearch in Google Scholar
  • 5 Korenke GC, Pouwels PJ, Frahm J. , et al. Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients. Pediatr Neurol 1996; 15 (02) 103-107
    CrossrefPubMedSearch in Google Scholar
  • 6 Loes DJ, Hite S, Moser H. , et al. Adrenoleukodystrophy: a scoring method for brain MR observations. Am J Neuroradiol 1994; 15 (09) 1761-1766
    PubMedSearch in Google Scholar
  • 7 Miller WP, Mantovani LF, Muzic J. , et al. Intensity of MRI gadolinium enhancement in cerebral adrenoleukodystrophy: a biomarker for inflammation and predictor of outcome following transplantation in higher risk patients. Am J Neuroradiol 2016; 37 (02) 367-372
    CrossrefPubMedSearch in Google Scholar
  • 8 Loes DJ, Fatemi A, Melhem ER. , et al. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology 2003; 61 (03) 369-374
    CrossrefPubMedSearch in Google Scholar
  • 9 Melhem ER, Loes DJ, Georgiades CS, Raymond GV, Moser HW. X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. Am J Neuroradiol 2000; 21 (05) 839-844
    PubMedSearch in Google Scholar
  • 10 Ho JK, Moser H, Kishimoto Y, Hamilton JA. Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy. J Clin Invest 1995; 96 (03) 1455-1463
    CrossrefPubMedSearch in Google Scholar
  • 11 Lund TC, Stadem PS, Panoskaltsis-Mortari A. , et al. Elevated cerebral spinal fluid cytokine levels in boys with cerebral adrenoleukodystrophy correlates with MRI severity. PLoS One 2012; 7 (02) e32218
    CrossrefPubMedSearch in Google Scholar
  • 12 Powers JM, Pei Z, Heinzer AK. , et al. Adreno-leukodystrophy: oxidative stress of mice and men. J Neuropathol Exp Neurol 2005; 64 (12) 1067-1079
    CrossrefPubMedSearch in Google Scholar
  • 13 Raymond GV, Seidman R, Monteith TS. , et al. Head trauma can initiate the onset of adreno-leukodystrophy. J Neurol Sci 2010; 290 (1,2): 70-74
    CrossrefPubMedSearch in Google Scholar
  • 14 Weller M, Liedtke W, Petersen D, Opitz H, Poremba M. Very-late-onset adrenoleukodystrophy: possible precipitation of demyelination by cerebral contusion. Neurology 1992; 42 (02) 367-370
    CrossrefPubMedSearch in Google Scholar
  • 15 Mahmood A, Raymond GV, Dubey P, Peters C, Moser HW. Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study. Lancet Neurol 2007; 6 (08) 687-692
    CrossrefPubMedSearch in Google Scholar
  • 16 Baumann M, Korenke GC, Weddige-Diedrichs A. , et al. Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy. Eur J Pediatr 2003; 162 (01) 6-14
    CrossrefPubMedSearch in Google Scholar
  • 17 Peters C, Charnas LR, Tan Y. , et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004; 104 (03) 881-888
    CrossrefPubMedSearch in Google Scholar
  • 18 Miller WP, Rothman SM, Nascene D. , et al. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. Blood 2011; 118 (07) 1971-1978
    CrossrefPubMedSearch in Google Scholar
  • 19 Eichler F, Duncan C, Musolino PL. , et al. Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. N Engl J Med 2017; 377 (17) 1630-1638
    CrossrefPubMedSearch in Google Scholar