Psychiatric disturbances in five patients with MELAS syndrome

IntroductionMitochondrial disorders of energetic metabolism (MD) represent a heterogeneous group of diseases manifesting at any age and its one of a number of mitochondria syndromes that share the common characteristics of encephalopathy and myopathy. The clinical expression of MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes) is highly variable and ppsychiatric symptoms are rarely reported in literature even if are more common in MELAS syndrome than in the general population.ObjectiveThe first aim of the study is describing the clinically observed primary psychiatric symptoms in a patient affected by MELAS syndrome admitted to the Psychiatric ward. The second aim is to go back over the diagnostic process, which led, from the uncommon psychiatric symptoms and signs to the final genetic diagnosis of MD.Methods and resultsWe report the case of a 44-year-old male with MELAS in whom psychiatric symptoms preceded the establishment of the clinical diagnosis for several months. Diagnosis was initially based on the neuroimaging and metabolic findings and subsequently confirmed with genetic analysis.ConclusionsIn case of aggressive and paranoid behaviour with delusions of persecution and disorganised behaviour mmitochondrial disorders deserve consideration as part of the differential diagnosis, especially if there is suspected involvement of other organ groups or positive family history of MD. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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A rare case of hypoparathyroidism due to MELAS syndrome

Endocrine Abstracts ◽

10.1530/endoabs.63.p81 ◽

2019 ◽

Author(s):

Tatiana Grebennikova ◽

Tatjana Zenkova ◽

Natalia Tarbaeva ◽

Ekaterina Sorkina ◽

Zhanna Belaya

Keyword(s):

Rare Case ◽

Melas Syndrome

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Urban And Sick And Rural: Psychiatric Disturbances Affect Children In Areas With Especially Low Neighborhood Solidarity

10.31988/scitrends.12419 ◽

2018 ◽

Author(s):

Paul Enck ◽

Nicole Simon

Keyword(s):

Psychiatric Disturbances

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Multidimensional autonomic nervous system profiles relate to psychiatric disturbances, emotion and personality

2020 11th Conference of the European Study Group on Cardiovascular Oscillations (ESGCO) ◽

10.1109/esgco49734.2020.9158162 ◽

2020 ◽

Author(s):

Nicola Toschi ◽

Andrea Duggento ◽

Maria Guerrisi ◽

Luca Passamonti

Keyword(s):

Nervous System ◽

Autonomic Nervous System ◽

Autonomic Nervous ◽

Psychiatric Disturbances

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Clinical presentation of a stroke-like episode in MELAS syndrome: what is the impact of epileptogenic activity?

Neurological Sciences ◽

10.1007/s10072-021-05277-0 ◽

2021 ◽

Author(s):

Pia Bernardo ◽

Maria Pandolfi ◽

Paola Vedova ◽

Antonio Varone ◽

Alfonso Rubino

Keyword(s):

Clinical Presentation ◽

Melas Syndrome ◽

The Impact

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Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Neurogenetics ◽

10.1007/s10048-021-00634-9 ◽

2021 ◽

Author(s):

Luca Magistrelli ◽

Roberta Croce ◽

Fabiola De Marchi ◽

Chiara Basagni ◽

Miryam Carecchio ◽

...

Keyword(s):

Autosomal Dominant ◽

Case Series ◽

Dominant Trait ◽

Autosomal Dominant Trait ◽

Phenotypic Spectrum ◽

Primary Familial Brain Calcification ◽

Psychiatric Disturbances ◽

Brain Calcification ◽

Uncertain Significance ◽

Six Genes

AbstractPrimary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

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