Syndromic presentations of mitochondrial disorders

Syndromic presentations of mitochondrial disorders

What are the main syndromic presentations of mitochondrial disorders and why are they important? 

Manifestations of mitochondrial disease can occur in virtually any organ system.

The clinical variability of these disorders can present a significant diagnostic challenge. Patients may demonstrate combinations of features that defy easy classification into known syndromes.

However, knowledge of recognized clinical syndromes found in mitochondrial disease can aid in the recognition of both common and less unusual presentations.

Some of the main presentations of mitochondrial disease are discussed in the below table.

Selected Neurologic and Nonneurologic Manifestations in Common Clinical Presentations of Mitochondrial Diseases

SyndromeNeurologic PhenotypesNonneurologic Phenotypes
Encephalopathy (MELAS; MERRF)Dementia, epilepsy, myoclonus, stroke-like episodes, cerebellar ataxiaLactic acidosis, pigmentary retinopathy, deafness, cardiac conduction defects, mild proximal weakness, diabetes mellitus, short stature
Myopathy (including exercise intolerance, myalgia, and myoglobinuria)Mild to moderate limb girdle weakness
PEO/PEO+/KSSInsidious onset of ptosis and partial ophthalmoplegia, often asymmetric. Elevated CSF protein and ataxia (KSS)
Mitochondrial neurogastrointestinal encephalopathyPEO, demyelinating neuropathy, leukoencephalopathyHearing loss, progressive gut hypomotility, and cachexia
Leigh’s syndromeEarly-onset loss of motor and verbal milestones, ataxia, emesis, strokes, elevated CSF lactateLactic acidosis, deafness
Neurogenic muscle weakness, ataxia, retinitis pigmentosaProximal neurogenic muscle weakness, sensory neuropathy, ataxia, learning difficulties, seizuresPigmentary retinopathy
Leber’s hereditary optic neuropathySubacute, usually painless optic neuropathy; occasionally dystonia, ataxia, neuropathyUsually young adult males
Maternally inherited diabetes and deafnessMinimal or no other featuresMinimal or no other features
Pediatric disease affecting multiple organ systemsShort stature, failure to thrive, anemia, cardiomyopathy, renal tubular acidosis

MELAS, Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MERRF, myoclonic epilepsy and ragged red fibers; PEO, progressive external ophthalmoplegia; KSS, Kearns–Sayre syndrome; CSF, cerebrospinal fluid.


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