Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation.
Neurosciences (Riyadh)
; 27(2): 111-115, 2022 Apr.
Article
in En
| MEDLINE
| ID: mdl-35477912
ABSTRACT
Kearns-Sayre Syndrome (KSS) is a subtype of chronic progressive external ophthalmoplegia (CPEO). In this case, A 21-year-old man diagnosed with KSS, and presented with chronic progressive blepharoptosis (ptosis) and external ophthalmoplegia, diffuse depigmentation of the retinal pigment epithelium, and cerebellar ataxia, with a cerebrospinal fluid protein of 254 mg/dL, was reported. Genetic screening revealed a novel mutated gene in SLC25A4 in the patient as well as in his mother NM_001151c.170G>C in exon 2. Its imaging finding is a characteristic progressive atrophy of the right cerebellar hemisphere. In conclusion, we found a case of KSS with a novel mutated gene in SLC25A4 NM_001151c.170G>C in exon 2 as the pathogenic mechanism, and found that KSS can be caused only when the proportion of mutations in the SLC25A4 gene reach a certain degree, and the patient with KSS showed a unique cranial imaging feature of unilateral progressive cerebellar atrophy.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Kearns-Sayre Syndrome
/
Ophthalmoplegia, Chronic Progressive External
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Neurosciences (Riyadh)
Journal subject:
NEUROLOGIA
Year:
2022
Document type:
Article
Publication country:
ARABIA SAUDITA
/
ARÁBIA SAUDITA
/
SA
/
SAUDI ARABIA