Unusual presentation of Kearns-Sayre syndrome in early childhood.
Pediatr Neurol
; 21(5): 830-1, 1999 Nov.
Article
in En
| MEDLINE
| ID: mdl-10593676
ABSTRACT
Congenital glaucoma and insulin-dependent diabetes mellitus were the predominant presenting signs in a patient with Kearns-Sayre syndrome. Thereafter, he developed short stature, pigmentary retinopathy, progressive external ophthalmoplegia, and ataxia. The diagnosis was confirmed by detecting a deletion of mitochondrial DNA in muscle, thus demonstrating that Kearns-Sayre syndrome can have the unusual presenting signs described above.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
DNA, Mitochondrial
/
Kearns-Sayre Syndrome
Type of study:
Etiology_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
Pediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
1999
Document type:
Article
Affiliation country:
Líbano