Angulate lysosomes with intralysosomal trilamellar structures were first described in patients with metabolic peroxisomal disorders. In this ultrastructural study of skin biopsies of 139 patients with degenerative neurological disorders and 45 patients with static encephalopathies, we observed angulate lysosomes with similar ultrastructure exclusively in degenerative neurological disorders. They were found in only a few cases (8%), but especially in patients with degenerative metabolic disorders (72%). Because they were never observed in patients with static encephalopathies, angulate lysosomes in the skin would seem to be a sign of progressive encephalopathy. The great majority (75%) of angulate lysosomes were associated with neuronal ceroid-lipofuscinosis (NCL). Their presence in skin biopsy could suggest the diagnosis of NCL and eliminate a peroxisomal disorder. In the latter pathology, angulate lysosomes, numerous in the liver and in the brain, were never observed in the skin. As described in pigmentary retinopathy, a conspicuous feature of NCL, we suggest that in this lysosomal storage disorder, the angulate lysosomes in skin biopsies could result from the phagocytosis of melanin.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s004010051055 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).
Ultrastruct Pathol
October 2018
c Genetics Division, Department of Pediatrics, Keck School of Medicine , University of Southern California, Los Angeles , California , USA.
Zellweger spectrum disorders (ZSD) are rare autosomal recessive inherited metabolic disorders and include severe (Zellweger syndrome) and milder phenotypes [neonatal adrenoleukodystrophy and infantile Refsum disease (IRD)]. ZSD are characterized by impaired peroxisomal functions and lack of peroxisomes detected by electron microscopy (EM). ZSD are caused by mutations in any of the 14 PEX genes.
View Article and Find Full Text PDFSkeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder.
J Radiol Case Rep
May 2015
University of California San Diego, Department of Radiology, San Diego, California, US ; Rady Children's Hospital, Department of Radiology, San Diego, California, USA.
Fucosidosis is a rare genetic lysosomal storage disorder caused by a deficiency in alpha- L-fucosidase. We present a case of a 4-year, 11-month-old girl with developmental delay, as well as skeletal and brain abnormalities as shown on X-ray and MRI. Her spinal X- rays demonstrated lumbar kyphosis and anterior beaking of lumbar vertebral bodies.
View Article and Find Full Text PDFDifficulty in recognizing multiple sulfatase deficiency in an infant.
Pediatrics
March 2006
Department of Pediatrics, State University of New York-Upstate Medical University, Syracuse, New York, USA.
We describe the difficulty in recognizing multiple sulfatase deficiency (MSD; Online Mendelian Inheritance in Man [OMIM] database No. 272200) in an infant. MSD is a rare autosomal recessive disorder that affects the posttranslational activation of various sulfatase enzymes.
View Article and Find Full Text PDFThe "soluble" adenylyl cyclase in sperm mediates multiple signaling events required for fertilization.
Dev Cell
August 2005
Department of Pharmacology, Joan and Sanford Weill Medical College, Graduate School of Medical Sciences of Cornell University, New York, NY 10021, USA.
Mammalian fertilization is dependent upon a series of bicarbonate-induced, cAMP-dependent processes sperm undergo as they "capacitate," i.e., acquire the ability to fertilize eggs.
View Article and Find Full Text PDFGalactosylceramidase deficiency causes sperm abnormalities in the mouse model of globoid cell leukodystrophy.
Exp Cell Res
March 2005
Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Biology, University of Siena, Italy.
The classical recessive mouse mutant, "the twitcher," is one of the several animal models of the human globoid cell leukodystrophy (Krabbe disease) caused by a deficiency in the gene encoding the lysosomal enzyme galactosylceramidase (GALC). The failure to hydrolyze galactosylceramide (gal-cer) and galactosylsphingosine (psychosine) leads to degeneration of oligodendrocytes and severe demyelination. Substrate for GALC is also the galactosyl-alkyl-acyl-glycerol (GalAAG), precursor of the seminolipid, the most abundant glycolipid in spermatozoa of mammals.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!