Abstract

Sai Charitha Sreeram*, Talari Sampurna, N. Surendra Reddy, P. Lakshmi, D. Ranganayakulu

ABSTRACT

Leigh's disease is a rare inherited neurometabolic subacute necrotizing encephalopathy (SNE) mostly involving brainstem and basal ganglia is a rare entity affecting the central nervous system generally of infants, incidence being 1 in 40,000. It is characterized by progressive loss of mental and movement abilities associated with abnormal muscle tone, weakness, visual loss, respiratory failure and raised lactate levels in blood and/or cerebrospinal fluid. There is no effective treatment for this condition; as such the prognosis of this condition is very bad with death occurring within the first few years of life most commonly due to respiratory failure. Here we present a rare and unique case of Leigh syndrome seen in 8-months-old boy, who was healthy until 2 months earlier when he was brought to the hospital by his parents with chief complaints of fever, cough and cold since 3 days and rapid breathing for a day. After performing the various examinations the physicians were confirmed the diagnosis as Leigh's disease. The therapy should be given for 12 days, and finally the patient was discharged on 13th day. Leigh's disease cannot be cured completely. Nucleus transplantation into enucleated oocyte is emerging as a new option for prevention of mitochondrial disorders. Further research aimed at prenatal identification of the responsible mutations and prevention of the disease.