Leigh’s Disease: A case Report

• Main Authors: Nikhil Verma, Darshan Doctor, Neelam Raval
• Format: Article
• Language: English
• Published: B.J.Medical College Development Society, Ahmedabad 2014-12-01
• Series: BJ Kines: National Journal of Basic & Applied Sciences
• Subjects: leigh disease; status epilepticus
• Online Access: http://bjkines.com/vol6dec14/Paper-8-LeighDiseaseFulltext.pdf

Leigh disease is a progressive degenerative, mitochondrial disorder of childhood with most cases become apparent during infancy. In most cases it presents as a progressive neurological disease with motor and intellectual developmental delay, developmental regression and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuro imaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 3years old male child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh’s disease.