Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

Pasquini Luca,Martinelli Diego,Deodato Federica,Longo Daniela,Dionisi-Vici Carlo,Diodato Daria,Guarnera Alessia,Rossi-Espagnet Maria Camilla,Carrozzo Rosalba,Napolitano Antonio

doi:10.1007/s00234-020-02501-0

Abstract

PurposeSpinal cord involvement in Kearns-Sayre (KSS) syndrome could be more frequent than commonly thought. Our aims were to evaluate the involvement of the spinal cord in patients with KSS by means of MRI and to investigate possible correlations of spinal and brain disease with patient disability.MethodsEleven patients with KSS disease and spinal cord MRI were retrospectively recruited. The severity of spinal disease was defined as follows: grade 0 (none), grade 1 (focal), and grade 2 (extensive). We calculated a radiologic score of brain involvement based on typical features. We performed a chi-square test to correlate spinal cord and brain MRI involvement to patient disability. For significant variables, a contingency coefficient, phi factor, and Cramer’s V were also computed.ResultsSpinal cord lesions were detected in 6/11 patients, showing four patterns: involvement of gray matter, gray matter and posterior columns, posterior columns, and anterior columns. The severity of spinal disease was grade 1 in two and grade 2 in four patients. All patients showed brain involvement (9-point average for patients with spinal involvement and 10 for the others). A significant correlation was found between disability score and spinal cord involvement (χ2 = 7.64; p = 0.022) or brain score (χ2 = 26.85; p = 0.043). Significance for brain score-disability correlation increased with the spinal cord as a cofactor (χ2 = 24.51; p = 0.017, phi factor = 1.201, Cramer’s V = 0.849, contingency effect = 0.767; p = 0.017).ConclusionSpinal cord lesions are common in KSS. Patients with spinal disease show higher disability than patients without spinal cord lesions, supporting the inclusion of dedicated acquisitions to routine MRI of the brain in patients with KSS.

Highlights

Spinal cord lesions were detected in 6/11 patients, showing four patterns: involvement of gray matter, gray matter and posterior columns, posterior columns, and anterior columns
Disease duration at the first magnetic resonance imaging (MRI) was similar for subjects with spinal cord involvement and without spinal disease
Discussion to be independent from brain disease severity (Fig. 3); it may show different radiological patterns, involving white and gray matter structures (Fig. 1), and it may be correlated with patient disability. These results support the inclusion of spinal acquisitions to routine MRI in patients with Kearns-Sayre syndrome (KSS), Our results show that spinal cord involvement can be frequently observed in KSS and depicted by spinal MRI

Summary

Introduction

Children’s Hospital, P.zza Sant’Onofrio 4, 00165 Rome, Italy. Medical Physics Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy. Division of Metabolism, IRCCS Bambino Gesù Children’s Hospital, Rome, Italy. Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, IRCCS Bambino Gesù Children’s Hospital, The Kearns-Sayre syndrome (KSS) is a rare mitochondrial encephalopathy, with an estimated prevalence of around. Clinical manifestations may include cerebellar ataxia, muscle weakness, growth failure, dementia, bilateral sensorineural hearing loss, endocrinopathies including diabetes, cerebrospinal fluid (CSF) protein concentration exceeding mg/dL (>1 g/L), elevated lactate, and pyruvate in blood and CSF [1]. The most common brain magnetic resonance imaging (MRI) findings in KSS are T2/FLAIR hyperintense, bilateral, and symmetric lesions observed in cerebral and cerebellar white matter (WM), thalamus, basal ganglia, and brainstem.

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