Biomaterial Database

Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses). 1974

J J Martin, and C de Groote

Skin biopsies have been performed in five cases belonging to the group of neuronal ceroid-lipofuscinoses (two cases of late infantile amaurotic idiocy with curvilinear cytosomes and three cases of juvenile amaurotic idiocy) and in twelve controls. In the late infantile amaurotic idiocy, cytosomes with curvilinear profiles were easily discovered in the epithelial cells and in the various skin appendages. A clinical diagnosis can therefore be readily supported by an innocuous and repeatable procedure. In juvenile amaurotic idiocy, pleiomorphic cytosomes with prevalent curvilinear profiles can be found in the skin appendages; they are smaller, less abundant and a more careful search is necessary to discover them.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008064	Lipidoses	Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.	Lipidosis,Lipoidosis
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003593	Cytoplasm	The part of a cell that contains the CYTOSOL and small structures excluding the CELL NUCLEUS; MITOCHONDRIA; and large VACUOLES. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)	Protoplasm,Cytoplasms,Protoplasms
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001065	Appendix	A worm-like blind tube extension from the CECUM.	Vermiform Appendix,Appendix, Vermiform
D001706	Biopsy	Removal and pathologic examination of specimens from the living body.	Biopsies