Summary
A case of adrenoleukodystrophy was studied morphologically and biochemically. The patient was a 28-year-old man with no family history of adrenoleukodystrophy. His neurologic symptoms were cerebellar ataxia, spastic paraplegia, pseudo-bulbar palsy, and a minimal visual disturbance, with neither adrenal nor hypogonadal symptoms.
The morphological and biochemical findings in this case are identical with those in typical adrenoleukodystrophy, but the topographical distribution of the lesions is distinctly different. The changes selectively affect the white matter in the cerebellum and brain stem in contrast to minimal involvement of the occipital white matter.
References
Budka H, Sluga E, Heiss WD (1976) Spastic paraplegia associated with Addison's disease: Adult variant of adrenoleukodystrophy. J Neurol 213:237–250
Griffin JW, Goren E, Schaumburg HH, Engel WK, Loriaux L (1977) Adrenomyleoneuropathy: A probable variant of adrenoleukodystropathy. I. Clinical and endocrinologic aspects. Neurology (Minneap) 27:1107–1113
Igarashi M, Schaumburg HH, Powers, J, Kishimoto Y, Kolodny E, Suzuki K (1976) Fatty acid abnormality in adrenoleukodystrophy. J Neurochem 26:851–860
Menkes JH, Corbo LM (1977) Adrenoleukodystrophy. Accumulation of cholesterol esters with very long chain fatty acids. Neurology (Minneap) 27:928–932
Narita S, Matsunaga M, Takebe K, Tamura T, Yoshimura K (1981) Adrenomyloneuropathy (a clinical variant of adrenoleukodystrophy) in a kindred. Clin Neurol (Tokyo) 21:872–878
Norman RM, Urich H, Tingey, AH (1963) Leukodystrophy with predirection for cerebellum and brain stem. Acta Neuropathol (Berl) 2:378–389
O'Neill BP, Marmion LC, Feringa ER (1981) The adrenoleukomyeloneuropathy complex. Expression in four generations. Neurology (Minneap) 31:151–156
Powell H, Tindall R, Schultz P, Paa D, O'Brien J, Lampert P (1975) Adrenoleukodystrophy. Electron microscopic findings. Arch Neurol 32:250–260
Powers JM, Schaumburg HH (1974) Adreno-leukodystrophy (sex-linked Schilder's disease): a pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis. Am J Pathol 76:481–500
Probst A, Ulrich J, Heitz PH U, Herschkowitz N (1980) Adrenomyeloneuropathy. A protracted, pseudo-systematic variant of adrenoleukodystrophy. Acta Neuropathol (Berl) 49:105–115
Schaumburg HH, Powers JM, Suzuki K, Raine CS (1974) Adrenoleukodystrophy (sex-linked Schilder disease). Arch Neurol 31:210–213
Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP, Jr (1975) Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Arch Neurol 32:577–591
Schaumburg HH, Powers JM, Raine CS, Spencer PS, Griffin JW, Prineas JW, Boehme DM (1977) Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic, and biochemical aspects. Neurology (Minneap) 27:1114–1119
Ulrich, J, Herschkowitz N, Heitz Ph, Sigrist Th, Baerlocher P (1978) Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron-microscopical, immunohistochemical and biochemical findings. Acta Neuropathol (Berl) 43:77–83
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Kuroda, S., Hirano, A. & Yuasa, S. Adrenoleukodystrophy-cerebello-brainstem dominant case. Acta Neuropathol 60, 149–152 (1983). https://doi.org/10.1007/BF00685361
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DOI: https://doi.org/10.1007/BF00685361