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The neuropathology of phenylketonuria: human and animal studies
Pathologic changes in the brain of untreated phenylketonuria (PKU) patients occur in structures that develop post-natally, i.e. in myelination of...
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Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities
Neurological abnormalities in phenylketonuria were described before dietary treatment became possible. These included tremor, clumsiness, epilepsy,...
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Neuroaxonal leukodystrophy associated with congenital cutis laxa: report of an autopsy case
A male patient, who was born with congenital cutis laxa characterized by cutaneous laxity due to the degeneration of elastic fibers, presented with...
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Primary progressive multifocal leukoencephalopathy presenting as an extrapyramidal syndrome
We report a 63-year-old woman with a progressive illness which began as a parkinsonian syndrome with bilateral rest tremor, limb rigidity and a gait...
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Unusual orthochromatic leukodystrophy with epitheloid cells (Norman-Gullotta): increase of very long chain fatty acids in brain discloses a peroxisomal disorder
Very long chain fatty acids (VLCFA) were found to be markedly increased and phytanic acid was borderline above normal in formalin-fixed brain white...
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Angiodysgenetic necrotising encephalopathy: presentation as an intrauterine death
The various morphological manifestations of intracranial vascular anomalies include the rare diffuse meningocerebral angiomatosis, sometimes termed...
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The dominant form of the pigmentary orthochromatic leukodystrophy
The present report documents a family with three cases in two successive generations of pigmentary orthochromatic leukodystrophy (POLD). The clinical...
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Membranous lipodystrophy (Nasu-Hakola disease) with thalamic degeneration: report of an autopsied case
An autopsied case of membranous lipodystrophy (Nasu-Hakola disease, NHD) with thalamic degeneration was reported. A 34-year-old Japanese man was...
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Adult pigment type (Peiffer) of sudanophilic leukodystrophy
Two autopsy cases of siblings with the adult pigment (Peiffer) type of sudanophilic leukodystrophy (SLD), which demonstrated the full-blown stage...
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“Angiodysgenetic necrotizing encephalopathy” and its different manifestations
Various observations of diffuse meningocerebral angiomatoses, which cannot be satisfactorily classified with the common phakomatoses, have been...
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The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch)
A boy with the pseudo-hydrocephalic progeroid syndrome (McKusic 26409) [7] is presented and compared to five previously reported children. The boy...
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Nasu-Hakola's disease (membranous lipodystrophy)
An autopsy case of Nasu-Hakola's disease (membranous lipodystrophy) is reported. A 43-year-old Japanese man, whose parents were not consanguineous,...
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Pelizaeus-Merzbacher disease in a brother and sister
A brother and sister developed a slowly progressive neurological disorder with cerebellar and pyramidal signs and mild dementia. The brother...
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Vascular malformations of the central nervous system: A morphological overview
Vascular malformations of the central nervous system (C.N.S.) are classified by size, location, and morphologic type, distinguishing a) capillary...
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Pelizaeus-Merzbacher disease
The clinical and neuropathological findings are reported of two sibs with adult type PMD. Clinical features deviating from the usual pattern...
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Membranocystic lesions of the lung in Nasu-Hakola disease
Massive membranocystic lesions of the lung were found in an autopsy case of Nasu-Hakola disease. The membranocystic structures are virtually...
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The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood
Inborn errors of metabolism in 40 children have been investigated by computed tomography to obtain data on the degree of cerebral involvement in...
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The central-peripheral transition zone of cervical spinal nerve roots in Jimpy mutant and normal mice
Comparative morphological and ultrastructural investigations on the cervical dorsal and ventral central-peripheral transition zones (CPTZs) of Jimpys...
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Membranous lipodystrophy
The case is described of a 35-year-old housewife diagnosed as having membranous lipodystrophy (as described by Nasu et al. in 1970 and called...