title: Self-mutilation in a patient with mucolipidosis III.
abstract: An 8-year-old girl with mucolipidosis III had self-mutilation of the distal phalanges of the second and third digits of her hands. She had neurophysiologic evidence of carpal tunnel syndrome, and consequent insensitivity to pain, which could explain the self-mutilation. Self-mutilation has not been previously described in lysosomal diseases in which carpal tunnel syndrome is frequently observed.
authors.affiliation: Department of Paediatrics, University of Florence, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: A
authors.initials: A
authors.lastname: Savelli
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: E
authors.initials: E
authors.lastname: Pasquini
mesh_terms: D002349:Carpal Tunnel Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D002553:Cerebroside-Sulfatase / Q000097:blood; D002648:Child; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005383:Finger Injuries / Q000209:etiology; D005966:Glucuronidase / Q000097:blood; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008361:Mannosidases / Q000097:blood; D009081:Mucolipidoses / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D012652:Self Mutilation / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005644:alpha-L-Fucosidase / Q000097:blood; D043323:alpha-Mannosidase; D001616:beta-Galactosidase / Q000097:blood; D001619:beta-N-Acetylhexosaminidases / Q000097:blood
chemical_list: D002553:Cerebroside-Sulfatase; D008361:Mannosidases; D001616:beta-Galactosidase; D043323:alpha-Mannosidase; D005966:Glucuronidase; D005644:alpha-L-Fucosidase; D001619:beta-N-Acetylhexosaminidases