A case of congenital non-progressive sensory neuropathy with tonic pupils.

Détails

ID Serval
serval:BIB_5E82C977A930
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
A case of congenital non-progressive sensory neuropathy with tonic pupils.
Périodique
Clinical Neuropathology
Auteur(s)
Janzer R.C., Spycher M.A., Boltshauser E., Cserhati M.
ISSN
0722-5091[print], 0722-5091[linking]
Statut éditorial
Publié
Date de publication
1986
Volume
5
Numéro
5
Pages
209-216
Langue
anglais
Résumé
One case of a non-progressive congenital neuropathy is reported. Clinical findings included subtotal analgesia, and diminished temperature, vibration and proprioceptive sense in arms and legs. The sensory nerve action potentials were absent. Autonomic dysfunctions were restricted to tonic pupils. Sural nerve biopsy taken at the age of 8 1/2 showed fascicular hypoplasia, subtotal loss of myelinated nerve fibers and severe loss of unmyelinated nerve fibers with a pathological size distribution. In the skin biopsy, including several cutaneous nerves, no myelinated nerve fibers were present, the unmyelinated nerve fibers were severely reduced and the collagen density was increased. Perivascular and periglandular innervation was significantly reduced. The findings in this case are suggestive of a malformative or fetally acquired lesion and further illustrate the difficulties in classification of the hereditary sensory neuropathies.
Mots-clé
Child, Female, Hereditary Sensory and Autonomic Neuropathies/pathology, Hereditary Sensory and Autonomic Neuropathies/physiopathology, Humans, Nerve Fibers/pathology, Reflex, Pupillary, Schwann Cells/pathology, Schwann Cells/ultrastructure, Skin/innervation, Sural Nerve/pathology, Sural Nerve/ultrastructure
Pubmed
Création de la notice
20/10/2010 9:03
Dernière modification de la notice
20/08/2019 14:16
Données d'usage