Adrenoleukodystrophy
Adrenoleukodystrophy (Melanodermic Leukodystrophy; Sudanophilic
Leukodystrophy) 31
General: Degenerative metabolic disease in which cholesterol with long-chain fatty acids accumulates in affected cells; symptoms usually begin between ages 3 and 12 years but may have their onset in adulthood; X-linked recessive with predominantly central nervous system and adrenal dysfunction.
Ocular: Optic atrophy; retinal ganglion cell degeneration; exotropia; esotropia; cataracts; optic pallor; optic nerve hypoplasia; visual field defects; macular pigmentary changes; progressive visual loss.
Clinical: Central nervous system manifestations consisting of behavioral changes, disturbance of gait, dysarthria, and dysphagia; seizures; spastic quadriparesis; decorticate posturing; one third of patients show adrenal insufficiency.
Adams RD. Sudanophilic leukodystrophy with bronzing of skin and adrenal atrophy (adrenoleukodystrophy). In: Raymond D, Adams MV, eds. Principles of neurology, 5th ed. New York: McGraw-Hill, 1993:840-841.
Cohen SMZ, et al. Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. Am J Ophthalmol 1983; 95:82-96.
Fenichel GM. Adrenoleukodystrophy. In: Fenichel GM, ed. Clinical pediatric neurology, 2nd ed. Philadelphia: WB Saunders, 1993:143.
Folz SJ, Trobe JD. The peroxisome and the eye. Surv Ophthalmol 1991; 35:353-368.
Glasgow BJ, et al. Ocular pathologic findings in neonatal adrenoleukodystrophy. Ophthalmology 1987; 94: 1054-1060.
MacCollin M, De Vivo DC. Adrenoleukodystrophy. In: Rowland LP, ed. Merritt’s textbook of neurology, 9th ed. Baltimore: Williams & Wilkins, 1995:579-580.
Sack GH Jr, Morrell JC. Visual pigment gene changes in adrenoleukodystrophy. Invest Ophthalmol Vis Sci 1993; 34: 2634-2637.
Traboulsi EI, Maumenee IH. Ophthalmologic manifestations of X-linked childhood adrenoleukodystrophy. Ophthalmology 1987; 94:47-52.
Leukodystrophy) 31
General: Degenerative metabolic disease in which cholesterol with long-chain fatty acids accumulates in affected cells; symptoms usually begin between ages 3 and 12 years but may have their onset in adulthood; X-linked recessive with predominantly central nervous system and adrenal dysfunction.
Ocular: Optic atrophy; retinal ganglion cell degeneration; exotropia; esotropia; cataracts; optic pallor; optic nerve hypoplasia; visual field defects; macular pigmentary changes; progressive visual loss.
Clinical: Central nervous system manifestations consisting of behavioral changes, disturbance of gait, dysarthria, and dysphagia; seizures; spastic quadriparesis; decorticate posturing; one third of patients show adrenal insufficiency.
Adams RD. Sudanophilic leukodystrophy with bronzing of skin and adrenal atrophy (adrenoleukodystrophy). In: Raymond D, Adams MV, eds. Principles of neurology, 5th ed. New York: McGraw-Hill, 1993:840-841.
Cohen SMZ, et al. Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. Am J Ophthalmol 1983; 95:82-96.
Fenichel GM. Adrenoleukodystrophy. In: Fenichel GM, ed. Clinical pediatric neurology, 2nd ed. Philadelphia: WB Saunders, 1993:143.
Folz SJ, Trobe JD. The peroxisome and the eye. Surv Ophthalmol 1991; 35:353-368.
Glasgow BJ, et al. Ocular pathologic findings in neonatal adrenoleukodystrophy. Ophthalmology 1987; 94: 1054-1060.
MacCollin M, De Vivo DC. Adrenoleukodystrophy. In: Rowland LP, ed. Merritt’s textbook of neurology, 9th ed. Baltimore: Williams & Wilkins, 1995:579-580.
Sack GH Jr, Morrell JC. Visual pigment gene changes in adrenoleukodystrophy. Invest Ophthalmol Vis Sci 1993; 34: 2634-2637.
Traboulsi EI, Maumenee IH. Ophthalmologic manifestations of X-linked childhood adrenoleukodystrophy. Ophthalmology 1987; 94:47-52.
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