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February 05, 2013; 80 (6) Resident and Fellow Section

Teaching NeuroImages: Cerebral adrenoleukodystrophy

A rare adult form

Rania A. Elenein, Sunil Naik, Stephanie Kim, Vineet Punia, Karin Jin
First published February 4, 2013, DOI: https://doi.org/10.1212/WNL.0b013e3182815416
Rania A. Elenein
From the UMDNJ–New Jersey Medical School, Newark, NJ.
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Sunil Naik
From the UMDNJ–New Jersey Medical School, Newark, NJ.
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Stephanie Kim
From the UMDNJ–New Jersey Medical School, Newark, NJ.
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Vineet Punia
From the UMDNJ–New Jersey Medical School, Newark, NJ.
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Karin Jin
From the UMDNJ–New Jersey Medical School, Newark, NJ.
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Teaching NeuroImages: Cerebral adrenoleukodystrophy
A rare adult form
Rania A. Elenein, Sunil Naik, Stephanie Kim, Vineet Punia, Karin Jin
Neurology Feb 2013, 80 (6) e69-e70; DOI: 10.1212/WNL.0b013e3182815416

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A 42-year-old man with Addison disease presented to the emergency department with unsteady gait for 1 year. A half-brother had epilepsy and difficulty walking, and died at 6 years of age. Another half-brother has a longstanding gait disorder. Over 3 to 4 months, his gait has become worse with marked stiffness, ataxia, and dysarthria. Neurologic examination demonstrated saccadic pursuit, ocular flutter, severe spasticity throughout, peripheral neuropathy, hyperreflexia, clonus, with bilateral extensor plantar reflexes, marked dysmetria, and dysdiadochokinesia. He stands with a marked forward stoop and flexed knees. MRI is shown in figures 1 and 2. The plasma concentration of very-long-chain fatty acids, which is a general test for peroxisomal disorders, was elevated, confirming the diagnosis of adrenoleukodystrophy (ALD). Very-long-chain fatty acids were also elevated in the surviving brother's plasma. Adult cerebral ALD is extremely rare. It is an X-linked peroxisomal disorder caused by mutation in the ABCD1 gene located at Xq28 and involves the nervous system, adrenal cortex, and Leydig cells in the testes.1,2

Figure 1
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Figure 1 Axial fluid-attenuated inversion recovery of brain MRI

Hyperintensity in the cerebellum, middle cerebellar peduncles, pons, cerebral peduncle, internal capsule, and genu of corpus callosum.

Figure 2
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Figure 2 Brain MRI with gadolinium

Gadolinium enhancement of the cerebellum, middle cerebellar peduncles, pons, cerebral peduncle, internal capsule, and genu of corpus callosum.

STUDY FUNDING

No targeted funding reported.

DISCLOSURE

The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.

Footnotes

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • © 2013 American Academy of Neurology

REFERENCES

  1. 1.↵
    1. Moser H,
    2. Dubey P,
    3. Fatemi A
    . Progress in X-linked adrenoleukodystrophy. Curr Opin Neurol 2004;17:263–269.
    OpenUrlCrossRefPubMed
  2. 2.↵
    1. Moser HW,
    2. Raymond GV,
    3. Dubey P
    . Adrenoleukodystrophy: new approaches to a neurodegenerative disease. JAMA 2005;294:3131–3134.
    OpenUrlCrossRefPubMed
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