Pseudo-infarto cerebral como primera manifestación de un MELAS tardío

N, Paula Contreras; T, María José Elso; C, Darío Ramírez; R, Luis Cartier

doi:10.4067/s0717-92272008000100005

Cited by 3 publications

(5 citation statements)

References 14 publications

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“…As for its association with basal ganglia calcification, the pathophysiological mechanism is not fully understood, although different theories try to explain its onset. 18,19…”

Section: Discussionmentioning

confidence: 99%

Symmetrical and bilateral basal ganglia calcification. Case series and literature review

Jiménez‐Ruiz¹,

Cárdenas-Saenz²,

Ruiz-Sandoval³

2023

GMM

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Introduction: Symmetric, bilateral basal ganglia calcification is rare finding that sometimes occurs asymptomatically. Its prevalence increases with age, and the most affected site is the globus pallidus. Report of cases: A series of seven cases with clinical and imaging diagnosis of basal ganglia calcification, recorded during the 2012 to 2016 period at the Department of Internal Medicine of the Hospital Civil de Guadalajara "Fray Antonio Alcalde, is presented. Most common clinical presentation was with altered alertness, headache and seizures. There was one case with movement disorders; there were no cases identified with dementia or tetany. Conclusion: Ganglia calcification can be associated with age-related neurodegenerative changes, but it can be an initial manifestation of a variety of systemic pathologies, including disorders of the calcium metabolism, intoxication by different agents, and autoimmune and genetic diseases. Correlation of typical imaging findings with clinical manifestations and laboratory results should be established to reach a definitive judgment.

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“…As for its association with basal ganglia calcification, the pathophysiological mechanism is not fully understood, although different theories try to explain its onset. 18,19…”

Section: Discussionmentioning

confidence: 99%

Symmetrical and bilateral basal ganglia calcification. Case series and literature review

Jiménez‐Ruiz¹,

Cárdenas-Saenz²,

Ruiz-Sandoval³

2023

GMM

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“…En cuanto a su asociación con la calcificación de ganglios basales, el mecanismo fisiopatológico no se conoce con exactitud, si bien diversas teorías intentan explicar su aparición. 18,19 Figura 2. Caso 3.…”

Section: Discussionunclassified

Calcificación simétrica y bilateral de ganglios basales. Serie de casos y revisión de la literatura

Jiménez‐Ruiz¹,

Cárdenas-Saenz²,

Ruiz-Sandoval³

2018

GMM

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Ganglia calcification can be associated with age-related neurodegenerative changes, but it can be an initial manifestation of a variety of systemic pathologies, including disorders of the calcium metabolism, intoxication by different agents, and autoimmune and genetic diseases. Correlation of typical imaging findings with clinical manifestations and laboratory results should be established to reach a definitive judgment.

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“…Arteriopatías cientes afectados [8][9][10]12,13 . En un estudio se encontró que el 6% de los menores de 45 años con ictus occipital es portador de una esta mutación 9 .…”

Section: Origen Causasunclassified

“…Consiste en déficit neurológico focales de instauración brusca, provocando déficit visual, trastornos motores, sensitivos o del lenguaje 9 . Se puede presentar también convulsiones en un 33% de los pacientes 8 , como se observa en el primer caso clínico en adulto joven en Chile publicado el año 2008 8 , siendo nuestra publicación la segunda en dicho grupo etario en nuestro país. Se pueden presentar otros síntomas y signos como debilidad muscular, intolerancia al ejercicio, vómitos episódicos, cefalea hemicraneal recurrente, demencia, baja estatura, mioclonus, ataxia, atrofia del nervio óptico, retinopatía pigmentaria, cardiomiopatía, pre-excitación en conducción cardíaca, bloqueo cardíaco, dismotilidad intestinal, nefropatía, degeneración espongiforme de la corteza cerebral, proteínas normales o elevadas en LCR, calcificación de los ganglios basales 9,10 .…”

Section: Origen Causasunclassified

“…La severidad de las manifestaciones clínicas depende también del tejido afectado. Los tejidos más afectados son el neuronal, el muscular (esquelético y cardíaco), órganos endocrinos, la retina y componentes no musculares del tracto gastrointestinal, ya que presentan mayores requerimientos energéticos y por tanto, mayor número de mitocondrias 3,5,8 .…”

Section: Introductionunclassified

See 1 more Smart Citation

Enfermedades mitocondriales: diagnóstico diferencial de enfermedad cerebrovascular en adulto joven a propósito de un caso

Ruiz-Siebald

2013

Rev. chil. neuro-psiquiatr.

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Mitochondrial diseases are a heterogeneous group of disorders characterized by impaired oxidative phosphorylation. Clinical manifestations are varied, depending on the nature of the mutation, phenotype of the mitochondria, degree of competition with normal mitochondrial DNA and affected tissues. The diagnosis is challenging and requires a high clinical suspicion with the corroboration of ragged red fibers on the muscle biopsy. Case report: We present the case of 41 years-old woman, with history of insulin dependent diabetes, bilateral sensorineural deafness, exercise intolerance and muscle weakness, which suffered a pseudovascular event with an increase of lactic acid in blood and cerebrospinal fluid. Brain magnetic resonance imaging showed a right temporo-parietal ischemic lesion. Muscle biopsy confirmed a mitochondrial myopathy. We emphasize the relevance of differential diagnosis of cerebrovascular disease in young adults.

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Pseudo-infarto cerebral como primera manifestación de un MELAS tardío

Abstract: MELAS is an acronym for the convergence of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes. It was described by Pavlakis et al. in 1984.

Cited by 3 publications

References 14 publications

Symmetrical and bilateral basal ganglia calcification. Case series and literature review

Symmetrical and bilateral basal ganglia calcification. Case series and literature review

Calcificación simétrica y bilateral de ganglios basales. Serie de casos y revisión de la literatura

Enfermedades mitocondriales: diagnóstico diferencial de enfermedad cerebrovascular en adulto joven a propósito de un caso

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