New findings in pathology of storage.
New clinicopathological phenotypes are described in this report. A subclinical form of cholesterol ester storage disease was diagnosed in two adult female patients with hyperlipoproteinaemia type IIb. Both were profoundly deficient in acid lipase activity. Fabry's disease was described with intensive storage of globotriaosyl ceramide restricted solely to the heart muscle which was enormously hypertrophic. The clinical course resembled that of idiopathic hypertrophic cardiomyopathy. The variants of sphingomyelinase deficiency type A described previously are reviewed and their clinical course revised. Two of the three patients with the minimal neurological lesion still display, after a four year interval, a stable course (ages 7 and 14 years) while the neurological status of the third one (aged 8 years) deteriorated profoundly. The clinical condition of the two cases with protracted neurovisceral symptomatology (aged now 29 and half, and 30 years) is unchanged.
Elleder
M
M
Hlava's 1st Institute of Pathology, First Medical Faculty, Charles University, Prague, Czech Republic.
D000293:Adolescent; D000328:Adult; D002648:Child; D000795:Fabry Disease / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D007962:Leukocytes / Q000201:enzymology; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D009206:Myocardium / Q000473:pathology*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*; D014281:Trihexosylceramides / Q000032:analysis*; D000519:alpha-Galactosidase / Q000097:blood; D001616:beta-Galactosidase / Q000097:blood; D001619:beta-N-Acetylhexosaminidases / Q000097:blood
D014281:Trihexosylceramides; C018549:globotriaosylceramide; D013108:Sphingomyelin Phosphodiesterase; D000519:alpha-Galactosidase; D001616:beta-Galactosidase; D001619:beta-N-Acetylhexosaminidases