Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
Neurol Sci
; 43(3): 2081-2084, 2022 Mar.
Article
in En
| MEDLINE
| ID: mdl-35031921
ABSTRACT
Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease associated to a widespread cerebral leukodystrophy. MRI shows a typical centripetal pattern where U-fibers are mainly affected with a relative spare of periventricular white matter. Recently, different patterns of spinal cord involvement have been described in KSS. Here we report 4 new cases with typical cerebral leukodystrophy associated with spinal cord lesions. A pattern characterized by abnormal signal intensity in the H gray matter and posterior columns was found in 2 patients, while the remaining 2 presented a peculiar involvement of the spinal trigeminal nuclei at the junction of low medulla and cervical cord. MRI spinal cord involvement in KSS is probably an underestimated finding and should be evaluated in the diagnostic work up of these patients.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Kearns-Sayre Syndrome
/
Mitochondrial Diseases
/
White Matter
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
En
Journal:
Neurol Sci
Journal subject:
NEUROLOGIA
Year:
2022
Document type:
Article
Affiliation country: