Unusual Neuroimaging in a Young Boy with Cerebral X-Linked Adrenoleukodystrophy

Abstract

We describe the case of a 7-year-old boy with cerebral X-linked adrenoleukodystrophy presenting with neurobehavioral symptoms. Attention deficit with hyperactive behavior was followed by progressive memory retrieval deficits and difficulty in writing. A detailed review of the clinical history, clinical examination and contrast-enhanced brain nuclear magnetic resonance imaging disclosed indeed an atypical cerebral form of X-linked adrenoleukodystrophy with diffuse anterior and posterior white matter involvement with a typical rim of contrast enhancement. A severe clinical deterioration occurred despite dietary treatment and hormonal replacement therapy. These rare but severe forms of atypical cerebral X-linked adrenoleukodystrophy can more often mimic attention deficit/hyperactivity disorder and should, therefore, be considered in young males with progressive neurobehavioral symptoms, particularly when possibly related to frontal white matter involvement. An accurate clinical history and examination should determine whenever a contrast-enhanced head MRI should be indicated.

Key words

X-linked adrenoleukodystrophy - childhood - ADHD

References

• 1 Afifi AK, Menezes AH, Reed LA. et al . Atypical presentation of X-linked childhood adrenoleukodystrophy with an unusual magnetic resonance imaging pattern.  J Child Neurol. 1996;  11 497-499
• 2 Castellote A, Vera J, Vazquez E. et al . MR in adrenoleukodystrophy: Atypical Presentation as Bilateral Frontal Demyelination.  AJNR, Am J Neuroradiol. 1995;  16 814-815
• 3 Levers CE, Brown RT, McCandless SE. Case studies: psychological test findings for 2 children with X-linked adrenoleukodystrophy.  Develop Behav Pediatr. 1999;  20 31-35
• 4 Loes DJ, Hite S, Moser HW. Adrenoleukodystrophy: a scoring method for brain MR observations.  AJNR, Am J Neuroradiol. 1994;  15 1761-1766
• 5 Loes DJ, Fatemi A, Melhem ER. et al . Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.  Neurology. 2003;  61 369-374
• 6 Melhem ER, Loes DJ, Georgiades CS. et al . X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression.  AJNR, Am J Neuroradiol. 2000;  21 839-844
• 7 Moser HW, Raymond GV, Dubey P. Adrenoleukodystrophy: new approaches to a neurodegenerative disease.  JAMA. 2005;  294 3131-3134
• 8 Moser HW, Smith KD, Watkins PA. et al .X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw Hill; 2001: 3257-3301
• 9 Riva D, Bova SM, Bruzzone MG. Neuropsychological testing may predict early progression of asymptomatic adrenoleukodystrophy.  Neurology. 2000;  54 1651-1655
• 10 Van Geel BM, Assies J, Wanders RJA. et al . X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.  J Neurol Neurosurg Psychiatry. 1997;  63 4-14

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