Amaurotische Idiotie mit einer besonderen Form von Pigmentablagerung

Moschel, Renate

doi:10.1007/bf00242703

Cited by 26 publications

(1 citation statement)

References 7 publications

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“…The concept of pigment variants dates back to the first observation by Jervis [19521, and was expanded subsequently by several reports [Moschel, 1954;Seitelberger and Simma, 1962;Zeman and Scarpelli, 19581 to finally focus on NCL [Horoupian and Ross, 1977;Jakob and Kolkmann, 1973;Jervis and Pullarkat, 19781. It now appears that pigment variants in lysosomal disorders may entail a diversity of conditions [Berkovic et al, 19881 and individual nosological entities which, however, may retrospectively not be completely delineated, i.e., the earlier papers most likely concern non-NCL disorders.…”

Section: Introductionmentioning

confidence: 97%

Pigment variant of neuronal ceroid‐lipofuscinosis

et al. 1995

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A 6-year-old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep-tendon reflexes which suggested Charcot-Marie-Tooth disease. Her sister, who also had both polyneuropathy and a progressive central nervous system (CNS) disease, did not have pigmentary retinopathy. At autopsy, the patient was found to have neuronal ceroid-lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluorescent granular lipopigments in ballooned perikarya and conspicuous extraneuronal pigmentation of subcortical grey matter, but without axonal spheroids. These findings indicate a pigment variant of NCL and represent one of very few patients recorded. The ultrastructure of the intraneuronal pigments was uniformly granular, while that of the extraneuronal pigments found within processes of the neuropil and glial perikarya was more variegated. In addition to those patients with the pigment variant of NCL, described earlier by Jakob and Kolkmann [1973: Acta Neuropathol (Berl) 26:225-236], and Jervis and Pullarkat [1978: Neurology 28:500-503], our patient shared clinical symptoms with those described in a family afflicted with polyneuropathy and NCL by Wisniewski et al. [1987: J Child Neurol 2:33-41]. Currently, it is unclear whether they have similar atypical forms of juvenile NCL (JNCL). We conclude that the spectrum of pigment variants in lysosomal diseases is heterogeneous: only few and recently described patients have had NCL, while others most likely had other forms of lipidosis.

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Section: Introductionmentioning

confidence: 97%

Pigment variant of neuronal ceroid‐lipofuscinosis

et al. 1995

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Niemann-Pick Disease (Crocker's Group A)

Martin¹

1972

Arch Neurol

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Postmortem findings on a 12-year-old Flemish girl unexpectedly revealed a neurolipidosis with the biochemical features of Niemann-Pick disease (Crocker's group A). Three other siblings were similarly affected clinically. The late clinical onset was suggestive of Crocker's group C, but the huge amount of sphingomyelin and lysobisphosphatidic acid stored in the organs and in the brain gray matter and the pronounced deficiency of sphingomyelinase were pathognomonic of group A. Pathological findings were unusual too, since in addition to the lipid storage in most neurons and in the reticuloendothelial system, large amounts of lipopigment were found in glial cells from the pallidum, pars reticulata of the substantia nigra and dentate nuclei, thalamus, and brain cortex.

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Hallervorden-Spatz Syndrome

Dooling¹,

Schoene²,

Richardson³

1974

Archives of Neurology

244

125

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(Fig 1) (Fig 3). Lewy bodies were also found within neurons of the substantia innominata and of the locus ceruleus.The cerebral cortex in general showed no cytoarchitectural abnormalities or changes in the nerve fibers or glia (except for the expected scarring at the biopsy site). Adja¬ cent to many of the nerve cells, espe¬ cially in the frontal and insular cortex, there were hyaline eosinophilic bodies of rounded or irregular contour, which in their appearance and staining properties resembled the swollen axons seen else¬ where; but they differed from the Lewy bodies (Fig 4). These structures, identified as juxtaneuronal axonal swellings, could also be found in the cerebral biopsy speci¬ men. In the hippocampus, many of the pyramidal neurons showed granulovacuolar degeneration.

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Amaurotische Idiotie mit einer besonderen Form von Pigmentablagerung

Cited by 26 publications

References 7 publications

Pigment variant of neuronal ceroid‐lipofuscinosis

Pigment variant of neuronal ceroid‐lipofuscinosis

Niemann-Pick Disease (Crocker's Group A)

Hallervorden-Spatz Syndrome

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