Peculiar dysmorphic syndrome with orthochromatic leucodystrophy. Discussion of its relationship with Cockayne's syndrome and Pelizaeus-Merzbacher's disease.

作者: J. J. Martin , R. Deberdt , M. Philippart , K. J. Van Acker , C. Hooft

DOI: 10.1007/BF00685068

关键词: MyelinSpasticityAudiologyDifferential diagnosisMicrocephalyAtrophyPathologySiblingCentral nervous systemPeripheral nervous systemMedicine

摘要: In 1968, Hooftet al. reported in three siblings a new syndrome with non-congenital microcephaly, peculiar appearance strikingly large ears, severe mental retardation, progressive optic atrophy and spasticity combined choreo-athetotic movements. While the myelin of peripheral nervous system was intact, examination central eldest sibling gave following results: demyelination occasionally tigroid pattern, relative preservation axons, dense diffuse fibrillary gliosis, scant amounts neutral fats (mainly perivascular), an pathways cerebellar inner granular layer. At no place were calcereous deposits found. The some islands does not warrent diagnosis classical form ofPelizaeus-Merzbacher's disease. clinical anatomo-pathological features allow differential withCockayne's syndrome. Our cases represent variant oforthochromatic leucodystrophy which could also be included within subgroup VI enlarged classification Pelizaeus-Merzbacher's disease (Seitelberger, 1970) beside Cockayne's

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