Unusual presentation of Kearns-Sayre syndrome in early childhood.
Publication
, Journal Article
Simaan, EM; Mikati, MA; Touma, EH; Rötig, A
Published in: Pediatr Neurol
November 1999
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.
Duke Scholars
Published In
Pediatr Neurol
DOI
ISSN
0887-8994
Publication Date
November 1999
Volume
21
Issue
5
Start / End Page
830 / 831
Location
United States
Related Subject Headings
- Neurology & Neurosurgery
- Male
- Kearns-Sayre Syndrome
- Humans
- Glaucoma
- Diabetes Mellitus, Type 1
- DNA, Mitochondrial
- Adolescent
- 3213 Paediatrics
- 3209 Neurosciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Simaan, E. M., Mikati, M. A., Touma, E. H., & Rötig, A. (1999). Unusual presentation of Kearns-Sayre syndrome in early childhood. Pediatr Neurol, 21(5), 830–831. https://doi.org/10.1016/s0887-8994(99)00084-3
Simaan, E. M., M. A. Mikati, E. H. Touma, and A. Rötig. “Unusual presentation of Kearns-Sayre syndrome in early childhood.” Pediatr Neurol 21, no. 5 (November 1999): 830–31. https://doi.org/10.1016/s0887-8994(99)00084-3.
Simaan EM, Mikati MA, Touma EH, Rötig A. Unusual presentation of Kearns-Sayre syndrome in early childhood. Pediatr Neurol. 1999 Nov;21(5):830–1.
Simaan, E. M., et al. “Unusual presentation of Kearns-Sayre syndrome in early childhood.” Pediatr Neurol, vol. 21, no. 5, Nov. 1999, pp. 830–31. Pubmed, doi:10.1016/s0887-8994(99)00084-3.
Simaan EM, Mikati MA, Touma EH, Rötig A. Unusual presentation of Kearns-Sayre syndrome in early childhood. Pediatr Neurol. 1999 Nov;21(5):830–831.
Published In
Pediatr Neurol
DOI
ISSN
0887-8994
Publication Date
November 1999
Volume
21
Issue
5
Start / End Page
830 / 831
Location
United States
Related Subject Headings
- Neurology & Neurosurgery
- Male
- Kearns-Sayre Syndrome
- Humans
- Glaucoma
- Diabetes Mellitus, Type 1
- DNA, Mitochondrial
- Adolescent
- 3213 Paediatrics
- 3209 Neurosciences