Summary
In 1968, Hooftet al. reported in three siblings a new syndrome with non-congenital microcephaly, a peculiar appearance with strikingly large ears, a severe mental retardation, a progressive optic atrophy and spasticity combined with choreo-athetotic movements.
While the myelin of the peripheral nervous system was intact, the examination of the central nervous system of the eldest sibling gave the following results: severe demyelination with occasionally a tigroid pattern, a relative preservation of the axons, a dense and diffuse fibrillary gliosis, scant amounts of neutral fats (mainly perivascular), an atrophy of the optic pathways and of the cerebellar inner granular layer. At no place were calcereous deposits found.
The preservation of some myelin islands does not warrent the diagnosis of a classical form ofPelizaeus-Merzbacher's disease. The clinical and anatomo-pathological features allow a differential diagnosis withCockayne's syndrome.
Our cases represent a variant oforthochromatic leucodystrophy which could also be included within subgroup VI of the enlarged classification of Pelizaeus-Merzbacher's disease (Seitelberger, 1970) and beside Cockayne's syndrome.
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To the late Prof. R. M. Norman.
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Martin, J.J., Deberdt, R., Philippart, M. et al. Peculiar dysmorphic syndrome with orthochromatic leucodystrophy. Acta Neuropathol 18, 224–233 (1971). https://doi.org/10.1007/BF00685068
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DOI: https://doi.org/10.1007/BF00685068