The brain in the 18q-syndrome.
The authors describe the cerebral neuropathological findings of a 25 1/2-year-old male with 18q-syndrome. An abnormal gyral pattern, atrophy of the olfactory and optic nerves and small neocerebellar hemispheres with hemispheral lobular sclerosis were noted. Microscopically there were pial glioneuronal heterotopias; misplacement of neurons in the molecular layer of the cortex, as well as in deep white matter; not readily identifiable Betz cells; gliosis of olfactory and optic tracts and elsewhere; and loss of Purkinje cells. Further detailed studies of other cases are needed to determine whether these abnormalities are characteristic of the 18q-syndrome.
Department of Pathology (Division of Neuropathology), Stanford University School of Medicine, CA.
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Vogel
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Urich
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Horoupian
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Wertelecki
D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D009410:Nerve Degeneration / Q000502:physiology; D009474:Neurons / Q000473:pathology; D013577:Syndrome