Abstract
The brain of a 17-month-old boy with infantile Gaucher's disease and oculomotor apraxia was studied by light and electron microscopy. Light microscopic examination showed large perivascular accumulations of Gaucher's cells in frontal lobe white matter, severe neuronal loss in the calcarine cortex and dentate nucleus of the cerebellum, and neuronaphagia and microglial nodules in the brainstem. Electron microscopy demonstrated intraneuronal cytoplasmic inclusions containing twisted tubules characteristic of Gaucher's disease in both the oculomotor nucleus and a random sample of cortex.
Original language | English (US) |
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Pages (from-to) | 300-303 |
Number of pages | 4 |
Journal | Annals of Neurology |
Volume | 23 |
Issue number | 3 |
State | Published - 1988 |
Externally published | Yes |
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ASJC Scopus subject areas
- Neuroscience(all)
Cite this
Infantile Gaucher's disease : A case with neuronal storage. / Grafe, Marjorie; Thomas, C.; Schneider, J.; Katz, B.; Wiley, C.
In: Annals of Neurology, Vol. 23, No. 3, 1988, p. 300-303.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Infantile Gaucher's disease
T2 - A case with neuronal storage
AU - Grafe, Marjorie
AU - Thomas, C.
AU - Schneider, J.
AU - Katz, B.
AU - Wiley, C.
PY - 1988
Y1 - 1988
N2 - The brain of a 17-month-old boy with infantile Gaucher's disease and oculomotor apraxia was studied by light and electron microscopy. Light microscopic examination showed large perivascular accumulations of Gaucher's cells in frontal lobe white matter, severe neuronal loss in the calcarine cortex and dentate nucleus of the cerebellum, and neuronaphagia and microglial nodules in the brainstem. Electron microscopy demonstrated intraneuronal cytoplasmic inclusions containing twisted tubules characteristic of Gaucher's disease in both the oculomotor nucleus and a random sample of cortex.
AB - The brain of a 17-month-old boy with infantile Gaucher's disease and oculomotor apraxia was studied by light and electron microscopy. Light microscopic examination showed large perivascular accumulations of Gaucher's cells in frontal lobe white matter, severe neuronal loss in the calcarine cortex and dentate nucleus of the cerebellum, and neuronaphagia and microglial nodules in the brainstem. Electron microscopy demonstrated intraneuronal cytoplasmic inclusions containing twisted tubules characteristic of Gaucher's disease in both the oculomotor nucleus and a random sample of cortex.
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UR - http://www.scopus.com/inward/citedby.url?scp=0023832851&partnerID=8YFLogxK
M3 - Article
C2 - 2837134
AN - SCOPUS:0023832851
VL - 23
SP - 300
EP - 303
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 3
ER -