Summary
The present report documents a family with three cases in two successive generations of pigmentary orthochromatic leukodystrophy (POLD). The clinical features of these cases and histochemical and ultrastructural investigations of two of the brains from successive generations are discussed. A review of the familial cases of POLD reported in the literature is also presented. Transmission of these cases was by a dominant inheritance. Onset of the clinical symptoms occurred at 42 to 54 years of age; duration of the disease was from 2–11 years, and death occurred at 45 to 57 years of age. Clinical manifestations of all three cases were severe headaches; bilateral pyramidal, pseudobulbar, cerebellar, and frontal release signs; gait disturbances; euphoria, or apathy; epileptic seizures; and dementia. The neuropathological pattern consists of slight cerebral atrophy, brownish discoloration of the cerebral white matter with demyelination and severe gliosis, sparing the sub-cortical U fibers; presence in the macrophages of lipid pigment granules that are sudanophilic, non metachromatic, and PAS and iron positive. The electron microscopic pattern of the lipid pigment in the macrophages is that of ceroid: electron-dense, membrane-bound intracytoplasmic lysosomes with curvilinear and/or fingerprint profiles.
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References
Belec L, Gray B, Louarn F, Gherardi R, Morelot D, Desttèe A, Poirier J, Castaigne P (1988) Leucodystrophie orthochromatique pigmentaire: maladie de van Bogaert et Nyssen. Rev Neurol (Paris) 144:347–357
Constantinidis J (1970) La forme présénile de la leucodystrohpie orthochromatique familiale. Archs Klausstift Vererb-Forsch (Zürich) 45:76–82
Constantinidis J (1970) La forme présénile de la leucodystrophie orthochromatique familiale. In: Gruner JÉ (ed) Comptes rendus du Vle Congrès international de neuropathologie. Masson, Paris, pp 1122–1123
Diezel PB, Richardson EP (1957) Histochemical and neuropathological studies in leucodystrophy. J Neuropathol Exp Neurol 16:130–132
Gray F, Destee A, Bourre R, Guerardi I, Krivosic P, Warop J, Poirier J (1987) Pigmentary type of orthochromatic leukodystrophy (OLD)M. A new case with ultrastructural and biochemical study. J Neuropathol Exp Neurol 46:585–596
Oepen H (1964) Klinische, pathologisch-anatomische und genealogische Untersuchung einer spätadulten Leukodystrophie. Arch Psychiatr Nervenkr 206:115–130
Okeda R, Matsuo T, Kawahara Y, Bishi Y, Tamai Y, Tamaka M, Kamaki M, Tsubota N, Yamadera H (1989) Adult pigment type (Pfeiffer) of sudanophilic leukodystrophy. Pathological and morphometrical studies on two autopsy cases of siblings. Acta Neuropathol 78:533–542
Seiser A, Jellinger K, Brainin M (1989) Pigmentary type of orthochromatic leukodystrophy with early onset and protracted course. Neuropediatrics 21:48–52
Tunon T, Ferrer I, Gallego J, Delgado G, Villanueva JA, Martinez-Penuela JM (1988) Leucodystrophy with pigmented glial and scavenger cells (pigmentary type of orthochromatic leucodystrophy). Neuropathol Appl Neurobiol 14:337–344
van Bogaert L, Nyssen R (1936) Le type tardif de la leucodystrophie progressive familiale. Rev Neurol (Paris) 65:21–45
Yamadera H, Okeda R, Amakawa T, Murofushi K, Eishi Y, Yamamoto K, Ishiguro T, Takahashi Y, Kojima T, Shimazono Y (1985) Three autopsy cases of adult pigment type (Pfeiffer) of familial sudanophilic leukodystrophy. Seishin Shinkeigaku Zasshi 87:93–113
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Visiting Scientist at the New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA
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Constantinidis, J., Wisniewski, T.M. The dominant form of the pigmentary orthochromatic leukodystrophy. Acta Neuropathol 82, 483–487 (1991). https://doi.org/10.1007/BF00293382
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DOI: https://doi.org/10.1007/BF00293382