Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis
(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:
https://lup.lub.lu.se/record/1118909
- author
- Carlén, Birgitta LU and Englund, Elisabet LU
- organization
- publishing date
- 2001
- 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
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000)
- id
- 7b8fa4db-90c0-4992-9d16-7f1547d68220 (old id 1118909)
- date added to LUP
- 2016-04-01 16:14:47
- date last changed
- 2022-01-28 18:23:03
@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}}, keywords = {{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}}, doi = {{10.1080/019131201753136296}}, volume = {{25}}, year = {{2001}}, }