Computerized Tomography and Adrenoleukomyeloneuropathy

O’Neill, Brian Patrick; Forbes, Glenn S.

doi:10.1001/archneur.1981.00510050059009

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1982

1994

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Cited by 19 publications

(1 citation statement)

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“…CT showed severe atro phy of the pons and cerebellum in cases 1 and 2, but mild atrophy in case 3. In case 1, the hypodensity area was revealed in the white matter of the occipital region with out enhancement by contrast material [2,5,12,13,22,32], Muscle biopsy specimens in these 2 cases showed no significant changes, while sural nerve biopsies revealed short lamellar bodies in case 2 [28][29][30]35],…”

Section: Clinical Findingsmentioning

confidence: 99%

Adrenoleukodystrophy Presenting as Spinocerebellar Degeneration

et al. 1989

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The clinical features of 3 patients from a kindred with adrenoleukodystrophy and the analysis of their plasma sphingomyelin are described. Onset of symptoms was between the ages of 33 and 54 years. Ataxic gait and spasticity were the only symptoms noted during the early stage of the disorder. Dementia and optic atrophy were present in two of the cases. Baseline plasma Cortisol was normal, but adrenocorticotropic hormone was elevated. Analysis of plasma sphingomyelin demonstrated an increase in very-long-chain (C24-C26) fatty acid. This study demonstrates that adrenoleukodystrophy may present with spinocerebellar symptoms.

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