title: MRI demyelination pattern and clinical course in a child with cerebral X-linked adrenoleukodystrophy (X-ALD).
abstract: The clinical spectrum in boys with X-linked adrenoleukodystrophy (X-ALD) ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. In the individual case, the disease course still remains unpredictable. Research findings suggest an important role of brain magnetic resonance imaging (MRI) lesion patterns as prognostic markers for X-ALD. Hence, familiarity with imaging features of childhood X-ALD in combination with clinical manifestation is required in order to stratify affected patients for therapy. We report on MRI findings and clinical course of cerebral X-ALD in a young boy with a rare subtype of white matter demyelination.
authors.affiliation: Departments of Radiology and Neuroradiology, University Hospital of Würzburg, Würzburg, Germany.
authors.forename: Johannes
authors.initials: J
authors.lastname: Nowak
authors.affiliation: Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Löbel
authors.affiliation: Department of Pediatrics, University Hospital of Würzburg, Würzburg, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Wölfl
authors.affiliation: Department of Pediatrics, University Hospital of Würzburg, Würzburg, Germany.
authors.forename: Paul-Gerhardt
authors.initials: PG
authors.lastname: Schlegel
authors.affiliation: Departments of Radiology and Neuroradiology, University Hospital of Würzburg, Würzburg, Germany.
authors.forename: Monika
authors.initials: M
authors.lastname: Warmuth-Metz
keywords: Loes score; X-linked adrenoleukodystrophy (X-ALD); demyelination; hematopoietic stem cell transplantation; magnetic resonance imaging (MRI)
references.citation: AJNR Am J Neuroradiol. 1994 Oct;15(9):1761-6
references.pmid: 7847225
references.citation: Neurology. 2003 Aug 12;61(3):369-74
references.pmid: 12913200
references.citation: Neuropediatrics. 2000 Oct;31(5):227-39
references.pmid: 11204280
references.citation: Orphanet J Rare Dis. 2012 Aug 13;7:51
references.pmid: 22889154
references.citation: Radiology. 2002 Oct;225(1):245-52
references.pmid: 12355012
references.citation: Ann Neurol. 1999 Jan;45(1):100-10
references.pmid: 9894883
references.citation: Neurology. 2005 May 24;64(10):1739-45
references.pmid: 15911801
references.citation: Nat Clin Pract Neurol. 2007 Mar;3(3):140-51
references.pmid: 17342190
references.citation: Radiographics. 2005 May-Jun;25(3):619-31
references.pmid: 15888613