Clinical, biochemical, pathological, and spectroscopic findings in 4 women, aged 15 to 29 years, with leukodystrophy and primary ovarian dysgenesis, are reported from the National Institutes of Neurological Disease, and Child Health and Development, Bethesda, MD. Neurologic evaluations revealed cognitive impairment in 3 (IQs 52, 60, 77), ataxia at age 10 in one, speech delay in one, febrile seizures in one, neurologic deterioration at ages 6-10, 17, and 24, mild clumsiness, cerebellar and pyramidal signs, optic atrophy, dysarthria, and facial weakness. Puberty was delayed in 2, and 2 had amenorrhea, with primary gonadal insufficiency and normal hypothalamic-hypophyseal axis. MRI showed diffuse white matter disease, with frontal cortical atrophy. Proton MRS showed reduction of choline-containing compounds and N-acetylaspartate in the white matter. [1]

COMMENT. A novel syndrome of leukodystrophy and primary ovarian dysgenesis of unknown cause is reported in 4 young women who presented with variable neurological impairments in the first or second decades. Chromosomes were normal, and Turner’s syndrome was ruled out. Known causes for leukodystrophy were also excluded. The molecular basis for the syndrome remains to be determined.