Leigh Syndrome: Report of a Rare Case with Late Onset Presentation

Qays A Hassan

doi:10.47723/kcmj.v14i1.25

Abstract

Leigh's syndrome, or sub acute necrotizing encephalomyelopathy, is a rare inherited neurometabolic disease of infancy and early childhood with variable course and prognosis. Rarely, it occurs in juveniles and adults. The diagnosis is difficult and still remains to challenge the clinicians on the basis of history; hence the role of imaging is very essential. It is the neuroimaging, chiefly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Late-onset varieties are rare and only few cases were reported all over the world. Here, I report a case of late onset (juvenile) Leigh syndrome presenting with an acute polyneuropathy. Neuroimaging confirmed it to be a case of Leigh syndrome.

Highlights

Leigh's syndrome, or sub acute necrotizing encephalomyelopathy, is a rare inherited neurometabolic disease of infancy and early childhood with variable course and prognosis
I report a case of late onset Leigh syndrome presenting with an acute polyneuropathy
It is a mitochondrial disease related to various enzymatic defects that affect the oxidative metabolism [1,2]

Summary

Introduction

Leigh's syndrome, or sub acute necrotizing encephalomyelopathy, is a rare inherited neurometabolic disease of infancy and early childhood with variable course and prognosis. I report a case of late onset (juvenile) Leigh syndrome presenting with an acute polyneuropathy. Leigh’s syndrome, or sub acute necrotizing encephalomyelopathy, described by Leigh in 1951, is characterized by symmetrical necrotic lesions in the central nervous system, involving areas such as the basal ganglia, brainstem, spinal cord and cerebellum.

Results

Conclusion