Leigh syndrome: A rare mitochondrial disorder

Gopen Kumar Kundu,Md Mizanur Rhaman,Shaheen Akhter,Amina Akhter

doi:10.3329/bsmmuj.v9i2.28889

Gopen Kumar Kundu, Md Mizanur Rhaman + Show 2 more

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https://doi.org/10.3329/bsmmuj.v9i2.28889

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Abstract

<p>Leigh syndrome is a rare, mitochondrial disorder of childhood . In most cases dysfunction of the respiratory chain enzymes is responsible for the disease. Raised lactate levels in blood and/or cerebrospinal fluid is noted. Magnetic resonance imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the appropriate diagnosis. Here, we report a case of progressive neurologic disorders presenting with motor and intellectual regression which on MRI was diagnosed as Leigh syndrome.</p>

Highlights

The Leigh disease is a rare mitochondrial disorder termed as subacute necrotizing encephalitis
It was first described by Denis Leigh in 1951.1 The clinical presentation of Leigh syndrome is manifested by psychomotor delay/regression, strabismus, muscular hypotonia, nystagmus, swallowing difficulty, ataxia, respiratory insufficiency, pyramidal signs, acute deterioration following common infections and lactate acidemia
It is presented with abnormal muscle tone, psychomotor regression, dystonia, weakness, ataxia, missed milestones or regression of the achieved milestones, visual loss, seizure and tachypnea.[1,7,8]

Summary

Introduction

The Leigh disease is a rare mitochondrial disorder termed as subacute necrotizing encephalitis. The patterns of inheritance are autosomal recessive, X-linked recessive and mitochondria.[3] The neuropathological features of Leigh disease are identical These are necrotic lesions (bilateral, focal and symmetric) with demyelination, vascular proliferation and gliosis in the basal ganglia, diencephalon and cerebellum and brainstem.[4] The diagnosis is usually done based on clinical features, meta-bolic abnormalities, mode of inheritance and neuroimaging findings.[5]. A 26-month-old immunized boy of consanguineous mating parents from a rural area of Bangladesh admitted into the Bangabandhu Sheikh Mujib Medical University with the complaints of regression of motor development (loss of neck control, unable to sit and stand which was previously achieved) and involuntary movements characterized by slow writhing movement of both upper and lower limbs for 1 month He had a history of repeated vomiting and respiratory distress since 7 month of his age.

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