Cerebral glycogenosis, alpha particle type: Morphologic and biochemical observations in an infant

Javad Towfighi, Barry S. Yoss, Warren W. Wasiewski, Robert C. Vannucci, Michael S. Bentz, Alexander Mamourian

Research output: Contribution to journalArticle

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Abstract

A 3-month-old infant with congenital hypotonia suffering from an unusual form of glycogenosis is reported. The most striking neuropathology: findings were vacuolation of neuropile and glycogen accumulation, especially in the cerebral cortex and cerebellar molecular layer. Ultrastructurally, glycogen accumulation was present mainly in neuntes and astrocytic processes, and mostly appeared as rosettes (alpha glycogen particles). Biochemical analysis of glycogen in various regions of the central nervous system showed an increase of up to 100-fold. The cerebral cortex, deep nuclei, and cerebellar cortex had the highest glycogen elevations, while the cerebral white matter glycogen level was normal. Among other tissues, the heart showed a several-fold increase in glycogen content. Muscle, liver, and kidney glycogen levels were not elevated. Findings in this case and in three other reported patients with cerebral glycogenosis of alpha particle type are discussed.

Original languageEnglish (US)
Pages (from-to)1210-1215
Number of pages6
JournalHuman Pathology
Volume20
Issue number12
DOIs
StatePublished - Jan 1 1989

Fingerprint

Alpha Particles
Glycogen Storage Disease
Glycogen
Cerebral Cortex
Liver Glycogen
Cerebellar Cortex
Muscle Hypotonia
Neuropil
Central Nervous System
Kidney
Muscles

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

Towfighi, Javad ; Yoss, Barry S. ; Wasiewski, Warren W. ; Vannucci, Robert C. ; Bentz, Michael S. ; Mamourian, Alexander. / Cerebral glycogenosis, alpha particle type : Morphologic and biochemical observations in an infant. In: Human Pathology. 1989 ; Vol. 20, No. 12. pp. 1210-1215.
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abstract = "A 3-month-old infant with congenital hypotonia suffering from an unusual form of glycogenosis is reported. The most striking neuropathology: findings were vacuolation of neuropile and glycogen accumulation, especially in the cerebral cortex and cerebellar molecular layer. Ultrastructurally, glycogen accumulation was present mainly in neuntes and astrocytic processes, and mostly appeared as rosettes (alpha glycogen particles). Biochemical analysis of glycogen in various regions of the central nervous system showed an increase of up to 100-fold. The cerebral cortex, deep nuclei, and cerebellar cortex had the highest glycogen elevations, while the cerebral white matter glycogen level was normal. Among other tissues, the heart showed a several-fold increase in glycogen content. Muscle, liver, and kidney glycogen levels were not elevated. Findings in this case and in three other reported patients with cerebral glycogenosis of alpha particle type are discussed.",
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Cerebral glycogenosis, alpha particle type : Morphologic and biochemical observations in an infant. / Towfighi, Javad; Yoss, Barry S.; Wasiewski, Warren W.; Vannucci, Robert C.; Bentz, Michael S.; Mamourian, Alexander.

In: Human Pathology, Vol. 20, No. 12, 01.01.1989, p. 1210-1215.

Research output: Contribution to journalArticle

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