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Pelizaeus-merzbacher disease (aplasia axialis extracorticalis congenita; sudanophilic leukodystrophy)


Pelizaeus-Merzbacher Disease (Aplasia Axialis Extracorticalis Congenita; Sudanophilic
Leukodystrophy) 555d34f 555d34f 555d34f 555d34f 555d34f 555d34f

General: Rare; subdivision of diffuse cerebral sclerosis predominantly involving the white matter of CNS; onset in infancy or childhood; X-linked recessive; male members affected through normal-appearing carrier mothers; abnormal myelin/myelin sheath structure secondary to abnormal gene on the X chromosome.

Ocular: Lateral, rotatory, or vertical nystagmus or nonrhythmic wandering eye movements; visual impairment from occipital lobe involvement; tapetoretinal degeneration characteristic of retinitis pigmentosa; attenuated arterioles; optic atrophy; papilledema.

Clinical: Retarded development; gait instability, ataxia; intention tremor and athetosis; hearing and speech disturbances; atrophic disturbances; spastic paralysis; weight gain.

Geeraets WJ. Ocular Syndromes. 3rd ed. Philadelphia: Lea & Febiger, 1976.

Hudson A, et al. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 1989; 86:8128-8131.

Merzbacher L. Eine Eigenartige Familiarhereditare Erkrankungsform Caplasia Axialis Extracorticals Congenital. Z Ges Neurol Psychiatr

Pelizaeus F. Uber eine Eigentumliche Form Spastischer Laahrnung mit Zerebralerschmungen auf Hereditarer Grundlage (multiple sclerose). Arch Psych Netvenkr 1885; 16:698.




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