Kearns-Sayre syndrome: expanding spectrum of a “novel” mitochondrial leukomyeloencephalopathy

• Published in: Neurological sciences Vol. 43; no. 3; pp. 2081 - 2084
• Main Authors: Moscatelli, Marco, Ardissone, Anna, Lamantea, Eleonora, Zorzi, Giovanna, Bruno, Claudio, Moroni, Isabella, Erbetta, Alessandra, Chiapparini, Luisa
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.03.2022; Springer Nature B.V
• Subjects: Brief Communication; Humans; Kearns-Sayre Syndrome - complications; Kearns-Sayre Syndrome - diagnosis; Kearns-Sayre Syndrome - pathology; Leukodystrophy; Magnetic Resonance Imaging; Medicine; Medicine & Public Health; Medulla oblongata; Mitochondria; Mitochondria - pathology; Mitochondrial Diseases - complications; Mitochondrial Diseases - diagnostic imaging; Neurology; Neuroradiology; Neurosciences; Neurosurgery; Psychiatry; Spinal cord; Substantia alba; Substantia grisea; Trigeminal nuclei; White Matter - pathology; Spinal cord; Leukodystrophy; MRI; Mitochondrial disease; Kearns-Sayre syndrome
• ISSN: 1590-1874; 1590-3478; 1590-3478
• DOI: 10.1007/s10072-022-05881-8

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.