A rare mitochondrial disorder: Leigh syndrome--a case report.

Dhananjay Y Shrikhande,Kunal Ahya,Gurmeet Singh,Piyush Kalakoti,M M Aarif Syed

doi:10.1186/1824-7288-36-62

Dhananjay Y Shrikhande, Kunal Ahya + Show 3 more

Open Access

https://doi.org/10.1186/1824-7288-36-62

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Abstract

Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay 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 neuroimaging, 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 7 months old female 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 syndrome.

Highlights

Leigh Syndrome [1], termed as subacute necrotising encephalopathy is a rare, inherited progressive neurodegenerative disorder with characteristic pathological features usually presenting in infancy or early childhood
Leigh syndrome is characterized by psychomotor delay or regression, muscular hypotonia, brainstem signs, ataxia, pyramidal signs, respiratory insufficiency, lactate acidemia and acute deterioration following common infections
Dysfunction of the respiratory chain enzymes is responsible for the disease

Summary

Background

Leigh Syndrome [1], termed as subacute necrotising encephalopathy is a rare, inherited progressive neurodegenerative disorder with characteristic pathological features usually presenting in infancy or early childhood. Case Presentation A 7 month old female child, 2nd product of second degree consanguineous marriage, with an uneventful perinatal history presented to our hospital with status epilepticus, delayed developmental milestones and regression of the achieved milestones. On initial examination, she was unconscious (Glassgow Coma Scale-5) and afebrile. Cerebrospinal fluid examination showed 4 cells, all lymphocytes and normal sugar and protein levels.

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