Advanced

Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis

Carlén, Birgitta LU and Englund, Elisabet LU (2001) In Ultrastructural Pathology 25(4). p.285-288
Abstract
Neuronal ceroid lipofuscinoses (NCLs) represent a large group of inherited neurodegenerative disorders characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The authors present a case of juvenile neuronal ceroid lipofuscinosis in a 7-year-old boy. Ultrastructural examination of a skin biopsy disclosed deposits of curvilinear profiles and fingerprint-like structures in epithelial cells of sweat glands, endothelial cells, peripheral nerve endings, and fibroblasts, These findings allowed specific confirmation of the assumed diagnosis of juvenile neuronal ceroid lipofuscinosis. Due to the genotypic and phenotypic variability within the group of NCLs, the clinical investigation may be long and... (More)
Neuronal ceroid lipofuscinoses (NCLs) represent a large group of inherited neurodegenerative disorders characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The authors present a case of juvenile neuronal ceroid lipofuscinosis in a 7-year-old boy. Ultrastructural examination of a skin biopsy disclosed deposits of curvilinear profiles and fingerprint-like structures in epithelial cells of sweat glands, endothelial cells, peripheral nerve endings, and fibroblasts, These findings allowed specific confirmation of the assumed diagnosis of juvenile neuronal ceroid lipofuscinosis. Due to the genotypic and phenotypic variability within the group of NCLs, the clinical investigation may be long and complicated. With the NCL disorders in mind, an accurate diagnosis based on ultrastructural examination of a skin biopsy may shorten this investigation, thus benefitting the patient. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Profiles, Curvilinear, Diagnosis, Fingerprint-LIKE, Structures, Ncl, Ultrastructure
in
Ultrastructural Pathology
volume
25
issue
4
pages
285 - 288
publisher
Taylor & Francis
external identifiers
  • wos:000171155000002
  • scopus:0034833342
ISSN
1521-0758
DOI
10.1080/019131201753136296
language
English
LU publication?
yes
id
7b8fa4db-90c0-4992-9d16-7f1547d68220 (old id 1118909)
date added to LUP
2008-06-25 14:59:42
date last changed
2018-05-29 09:36:02
@article{7b8fa4db-90c0-4992-9d16-7f1547d68220,
  abstract     = {Neuronal ceroid lipofuscinoses (NCLs) represent a large group of inherited neurodegenerative disorders characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The authors present a case of juvenile neuronal ceroid lipofuscinosis in a 7-year-old boy. Ultrastructural examination of a skin biopsy disclosed deposits of curvilinear profiles and fingerprint-like structures in epithelial cells of sweat glands, endothelial cells, peripheral nerve endings, and fibroblasts, These findings allowed specific confirmation of the assumed diagnosis of juvenile neuronal ceroid lipofuscinosis. Due to the genotypic and phenotypic variability within the group of NCLs, the clinical investigation may be long and complicated. With the NCL disorders in mind, an accurate diagnosis based on ultrastructural examination of a skin biopsy may shorten this investigation, thus benefitting the patient.},
  author       = {Carlén, Birgitta and Englund, Elisabet},
  issn         = {1521-0758},
  keyword      = {Profiles,Curvilinear,Diagnosis,Fingerprint-LIKE,Structures,Ncl,Ultrastructure},
  language     = {eng},
  number       = {4},
  pages        = {285--288},
  publisher    = {Taylor & Francis},
  series       = {Ultrastructural Pathology},
  title        = {Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis},
  url          = {http://dx.doi.org/10.1080/019131201753136296},
  volume       = {25},
  year         = {2001},
}