Neuropediatrics 2014; 45 - p034
DOI: 10.1055/s-0034-1390606

X-linked Adrenoleukodystrophy: Severe Head Trauma Masked Diagnosis—A Case Report

E. Haber 1, M. Brunner-Krainz 1, W. Erwa 2, U. Gruber-Sedlmeyer 1, A. Schwerin-Nagel 1, A. Kortschak 1, A. Pilhatsch 3, E. Achatz 4, E. Paschke 2
  • 1Department of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria
  • 2Institute for Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria
  • 3Department of Radiology, Medical University of Graz, Graz, Austria
  • 4Department of Paediatrics and Adolescent Medicine, Hospital Klagenfurt, Klagenfurt, Austria

Introduction: X-linked adrenoleukodystrophy (OMIM 300100) is caused by the deficiency of a peroxisomal transmembrane protein responsible for the transport of very long chain fatty acids (ABCD1 gene). The various phenotypes (cerebral adrenoleukodystrophy, adrenomyeloneuropathy, Morbus Addison only, and women with X-ALD) do not correlate with the known mutations of the ABCD1 gene.1 In case of cerebral involvement, white matter lesions can be seen in the magnetic resonance imaging (MRI) of the brain and are graded by the Loes Score, which plays a role in prognosis and therapy.2 Hematopoietic stem cell transplantation (HCT) can stop the demyelinating process in brain, but it has to be performed at an early stage of the disease.3,4

Case Report: We discuss the case of a 5-year-old boy, who experienced severe head trauma at an age of 3 years. Initial MRI of the brain showed lesions, which were interpreted as axonal injuries. About 10 months later walking disability, difficulty with speech, and episodes of disorientation occurred. Another MRI of the brain was done, which showed progressive white matter lesions. X-ALD was suspected due to the findings in MRI and family history, as the mother reported at that time, that her father suffered from adrenomyeloneuropathy. Mutation analysis confirmed the diagnosis. Because of the advanced stage of the disease (Loes Score 15 and Performance intelligence quotient 75), HCT was no option anymore.2,3,4 The clinical course showed rapid progression.

Discussion: The initial lesions in the brain MRI were all explained by the head trauma. A follow-up of the cerebral MRI was missed to be done. Unfortunately, the boy was diagnosed, when the disease had already progressed to an advanced stage, so HCT was no option anymore.

References

References

1 Engelen M, Kemp S, de Visser M, et al. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis 2012;7:51

2 Loes DJ, Fatemi A, Melhem ER, et al. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology 2003;61(3):369-374

3 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(7):1971-1978

4 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(3):881-888