Macroangiopathy is a typical phenotypic manifestation of MELAS

Finsterer, Josef; Zarrouk‐Mahjoub, Sinda

doi:10.1007/s11011-017-0020-6

Cited by 4 publications

(3 citation statements)

References 13 publications

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“…Nevertheless, MELAS presents as a cerebral infarct-like lesion in the occipital region and is reported to be associated with macroangiopathy. [23,26,27] Stiff-person syndrome manifests as epileptic muscle spasms of the trunk and limb proximal muscles, spreading throughout the whole body over the course of a few months. [23–25] In our patient, involuntary movements existed only in the left upper and lower extremities, and no lactic acidosis was noted.…”

Section: Discussionmentioning

confidence: 99%

Investigation of the relationship between non-ketotic hyperglycemia and hemichorea-hemiballism

Hsiao

Kuo

et al. 2019

Medicine

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Rationale: Hemichorea-hemiballism, a rare manifestation of non-ketotic hyperglycemia, characterized by involuntary arrhythmic motions involving one side of the body, results from focal lesions in the contralateral caudate nucleus and putamen. Hyperkinetic disorders can be complications of uncontrolled diabetes mellitus and should not be ignored. Patient concerns: We present the case of a 39-year-old woman who presented to the emergency department with a 3-day history of left-sided hemichorea-hemiballism. She had type 2 diabetes mellitus with poor control and maintenance of regular hemodialysis. Diagnoses: The patient was diagnosed as hyperglycemia, normal ketone body and hemichorea-hemiballism based on laboratory examination, computed tomography (CT) scan, and brain magnetic resonance image (MRI). Interventions: Intensive glycemic control via insulin injection was prescribed for correction of hyperglycemia. Outcomes: The unilateral involuntary movements subsided progressively over four weeks. The patient's hemichorea had completely resolved at the three-month follow-up. Lessons: This unusual clinical presentation is often accompanied by severe hyperglycemia. Appropriate blood glycemic control is important. If physicians recognize and provide early treatment for this disease, it is usually treatable and has a good prognosis.

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Section: Discussionmentioning

confidence: 99%

Investigation of the relationship between non-ketotic hyperglycemia and hemichorea-hemiballism

Hsiao

Kuo

et al. 2019

Medicine

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“…For instance, disorders of the mitochondrial respiratory chain can cause cytopenias, among other clinical features. 18,19 In addition, primary defects in heme synthesis, or secondary effects on this pathway because of other mitochondrial disorders, can prevent the formation of heme and lead to excessive iron accumulation, causing sideroblastic anemia and cellular toxicity, respectively. 20,21 Finally, many ISC biogenesis disorders, such as GLRX5 deficiency, FDX2 myopathy, and ABCB7 deficiency, also have similar manifestations.…”

Section: Pathophysiology Of Hematologic Manifestations In Primary Mit...mentioning

confidence: 99%

“…Given the above roles of mitochondria in hemopoiesis, disorders that disrupt these functions often have hematologic abnormalities. For instance, disorders of the mitochondrial respiratory chain can cause cytopenias, among other clinical features 18,19 . In addition, primary defects in heme synthesis, or secondary effects on this pathway because of other mitochondrial disorders, can prevent the formation of heme and lead to excessive iron accumulation, causing sideroblastic anemia and cellular toxicity, respectively 20,21 .…”

Section: Pathophysiology Of Hematologic Manifestations In Primary Mit...mentioning

confidence: 99%

Hematologic Manifestations in Primary Mitochondrial Diseases

Selvanathan,

Teo,

Parayil Sankaran

2024

Journal of Pediatric Hematology/Oncology

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Primary mitochondrial disorders (PMDs) are known for their pleiotropic manifestations in humans, affecting almost any organ or system at any time. Hematologic manifestations, such as cytopenias and sideroblastic anemia, occur in 10% to 30% of patients with confirmed PMDs. These can be the initial presenting features or complications that develop over time. Surveillance for these manifestations allows for prompt identification and treatment. This article provides an overview of the pathophysiology underpinning the hematologic effects of mitochondrial dysfunction, discussing the 3 key roles of the mitochondria in hematopoiesis: providing energy for cell differentiation and function, synthesizing heme, and generating iron-sulfur clusters. Subsequently, the diagnosis and management of mitochondrial disorders are discussed, focusing on hematologic manifestations and the specific conditions commonly associated with them. Through this, we aimed to provide a concise point of reference for those considering a mitochondrial cause for a patient’s hematologic abnormality, or for those considering a hematologic manifestation in a patient with known or suspected mitochondrial disease.

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Reversible Dilation of Cerebral Macrovascular Changes in MELAS Episodes

Sun

et al. 2018

Clin Neuroradiol

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Macroangiopathy is a typical phenotypic manifestation of MELAS

Cited by 4 publications

References 13 publications

Investigation of the relationship between non-ketotic hyperglycemia and hemichorea-hemiballism

Investigation of the relationship between non-ketotic hyperglycemia and hemichorea-hemiballism

Hematologic Manifestations in Primary Mitochondrial Diseases

Reversible Dilation of Cerebral Macrovascular Changes in MELAS Episodes

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