Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder

Finsterer, Josef; Bastovansky, Adam

doi:10.4067/s0034-98872015000900016

Cited by 21 publications

(13 citation statements)

References 13 publications

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“…Already Leber himself reported that some of his LHON patients presented with headache, vertigo, epilepsy, mental impairment, nystagmus, tremor, areflexia, loss of sphincter control, pyramidal tract disease, ataxia, or sensory disturbances 35. Further evidence was provided later for the fact that LHON is not exclusively an ophthalmologic disorder but rather a multisystem disease with predominant affection of the eyes (mitochondrial multiorgan disorder syndrome) 36,37. There are also indications that primary LHON mutations may not manifest phenotypically with ophthalmologic disease but with dominant organ involvement other than the eyes 30,38,39.…”

Section: Discussionmentioning

confidence: 99%

Leber’s hereditary optic neuropathy is multiorgan not mono-organ

Finsterer¹,

Zarrouk‐Mahjoub²

2016

OPTH

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Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in subunits of complex I in the respiratory chain (primary LHON mutations), while other mtDNA mutations can also be causative. Since the first description, it is known that LHON is not restricted to the eyes but is a multisystem disorder additionally involving the central nervous system, ears, endocrinological organs, heart, bone marrow, arteries, kidneys, or the peripheral nervous system. Multisystem involvement may start before or after the onset of visual impairment. Involvement of organs other than the eyes may be subclinical depending on age, ethnicity, and possibly the heteroplasmy rate of the responsible primary LHON mutation. Primary LHON mutations may rarely manifest without ocular compromise but with arterial hypertension, various neurodegenerative diseases, or Leigh syndrome. Patients with LHON need to be closely followed up to detect at which point organs other than the eyes become affected. Multiorgan disease in LHON often responds more favorably to symptomatic treatment than the ocular compromise.

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Section: Discussionmentioning

confidence: 99%

Leber’s hereditary optic neuropathy is multiorgan not mono-organ

Finsterer¹,

Zarrouk‐Mahjoub²

2016

OPTH

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“…17,18 Often, only a single organ is initially affected and other organs are consecutively affected after long periods of time. 19 There is no consistent pattern of organ involvement and no regular sequence among the organs which are affected. Factors which drive the pattern of organ involvement and the speed of progression may include the type of mutation (e.g.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset

Finsterer¹,

Zarrouk‐Mahjoub²

2016

SQUMJ

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“…133 More frequently, basal ganglia calcification can be found in nsMIDs than in specific MIDs. 134 Basal ganglia calcification may even occur in pediatric patients with MELAS. 135,136 In single cases, basal ganglia calcification was associated with generalized dystonia.…”

Section: Basal Ganglia Calcificationmentioning

confidence: 99%

Cerebral Manifestations of Mitochondrial Disorders

Finsterer

Carvalho

2017

Can. J. Neurol. Sci.

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This review aims at summarizing and discussing previous and recent findings concerning the cerebral manifestations of mitochondrial disorders (MIDs). MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) either already at onset or later in the course. After the muscle, the brain is the organ second most frequently affected in MIMODS. Cerebral manifestations of MIDs are variable and may present with or without a lesion on imaging or functional studies, but there can be imaging/functional lesions without clinical manifestations. The most well-known cerebral manifestations of MIDs include stroke-like episodes, epilepsy, headache, ataxia, movement disorders, hypopituitarism, muscle weakness, psychiatric abnormalities, nystagmus, white and gray matter lesions, atrophy, basal ganglia calcification, and hypometabolism on 2-deoxy-2-[fluorine-18]fluoro-D-glucose positron-emission tomography. For most MIDs, only symptomatic therapy is currently available. Symptomatic treatment should be supplemented by vitamins, cofactors, and antioxidants. In conclusion, cerebral manifestations of MIDs need to be recognized and appropriately managed because they strongly determine the outcome of MID patients.

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Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder

Abstract: Non -syndromic, multi-organ mitochondrial disorders (MIDs)

Cited by 21 publications

References 13 publications

Leber’s hereditary optic neuropathy is multiorgan not mono-organ

Leber’s hereditary optic neuropathy is multiorgan not mono-organ

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset

Cerebral Manifestations of Mitochondrial Disorders

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Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder

Abstract: Non -syndromic, multi-organ mitochondrial disorders (MIDs)

Cited by 21 publications

References 13 publications

Leber&rsquo;s hereditary optic neuropathy is multiorgan not mono-organ

Leber&rsquo;s hereditary optic neuropathy is multiorgan not mono-organ

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset

Cerebral Manifestations of Mitochondrial Disorders

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Leber’s hereditary optic neuropathy is multiorgan not mono-organ

Leber’s hereditary optic neuropathy is multiorgan not mono-organ