Encefalomielopatía necrotizante subaguda: síndrome de Leigh

Abstract

Introduction

Leigh syndrome is a very rare neurodegenerative metabolic disease associated with psychomotor retardation or regression and brainstem and/or basal ganglia involvement bilaterally and symmetrically. It usually appears between 3 and 12 months of life with limited sucking, loss of head support and psychomotor deficit. Unfortunately, there is no therapeutic option.

Objective

To describe the main characteristics of this entity and review the most current concepts.

Case presentation

A 6-month-old infant was seen for a pediatric check-up with axial hypotonia, poor eye contact and swallowing difficulties. Due to gastroenteritis the patient was admitted to hospital with metabolic acidosis with hyperlactacidemia. Further studies were performed on suspicion of mitochondrial disease, confirming the suspicion with electrophysiological tests, neuroimaging and genetic study.

Conclusions

Leigh syndrome is a very rare disease, appearing mainly in infancy with generally poor prognosis.