DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20160179

Leigh’s disease (subacute necrotising encephalo myelopathy): a rare mitochondrial disorder

Sheesham Agarwal, Nikita Tripathi, Anurag Singh, Suresh Verma

Abstract


Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. Raised lactate levels in blood and/or cerebrospinal fluid along with neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem confirms the diagnosis. MRS can also be used to detect raised level of Lactate. Here, we report a case of 11 months old female child who presented with seizures, delayed milestones and regression of the already achieved milestones with abnormal choreoathetoid movements and dystonia.


Keywords


Leigh’s disease, MRI, Magnetic resonance spectrometry

Full Text:

PDF

References


Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry. 1951;14:216.

Medina L, Chi T, DeVivo D. MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect. AJNR. 1990;11:379-84.

Barkovich AJ. Toxic and metabolic brain disorders. In: Pediatric Neuroimaging. New York: Raven Press. 1995:55-106.

Geyer CA, Sartor KJ, Prensky AJ. Leigh disease (subacute necrotizing encephalomyelopathy): CT and MR in five cases. J Comput Assist Tomogr. 1988;12:4044.

Davis PC, Hoffman JC Jr., Braun IF. MR of Leigh's disease (subacute necrotizing encephalomyelopathy). AJNR. 1987;8:71-5.

Palteil HJ, O'Gorman AM, Meagher-Villemure K. Subacute necrotizing encephalomyelopathy (Leigh disease): CT study. Radiology. 1987;162:115-8.