Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
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Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
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been obtained from the patient for publication of this article and accompanying images. Author contribution statement Thang Viet Tran was the primary physician of the patient. Thang Viet Tran and Nam Quang Tran managed the patient. Chien Cong
Department of Endocrinology, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam
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Department of Endocrinology, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam
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Department of Endocrinology, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam
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Summary
Mitochondrial diseases are a group of rare diseases presenting with heterogeneous clinical, biochemical, and genetic disorders caused by mutations in the mitochondrial or nuclear genome. Multiple organs can be affected, particularly those with high energy demand. Diabetes is a common endocrine manifestation of mitochondrial diseases. The onset of mitochondrial diabetes can be latent or acute, and the presenting phenotype can be type 1- or type 2-like. Studies show that diabetes ais associated with latent progression of cognitive decline in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Herein, we report a case of rapid cognitive decline after the acute onset of diabetes in a patient with MELAS syndrome. The patient was a 36-year-old woman who was hospitalized due to hyperglycemic crisis and seizures. She was diagnosed with MELAS syndrome two years previously, and had gradually progressing dementia and hearing loss. However, following the acute onset of diabetes, she developed rapid cognitive decline and loss of ability to perform daily activities. In conclusion, the acute onset of diabetes could be an associated risk factor for rapid cognitive decline in patients with MELAS syndrome. Thus, these patients as well as healthy carriers with related genetic mutations should undergo diabetes education and screening tests. Moreover, clinicians should be aware of the possibility for acute onset of hyperglycemic crisis, particularly in the presence of triggering factors.
Learning points
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Diabetes is a common endocrine manifestation of mitochondrial diseases, presenting with a type 1- or type 2-like phenotype depending on the level of insulinopenia.
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Metformin should be avoided in patients with mitochondrial diseases to prevent metformin-induced lactic acidosis.
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Mitochondrial diabetes can manifest before or after the onset of MELAS syndrome.
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In patients with MELAS syndrome, diabetes can initially manifest with a life-threatening severe hyperglycemic crisis and can cause rapid cognitive decline.
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Diabetes screening tests (e.g. hemoglobin A1c, oral glucose tolerance test, or random blood glucose level measurement) should be performed either systematically or in the presence of symptoms, particularly after triggering events.
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Genetic testing and counseling should be provided to patients and their families for the purpose of better understanding the inheritance, progression, and possible outcomes of the disease.
Department of Radiology, Hanoi Medical University, Hanoi, Vietnam
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Department of Radiology, Childrent’s Hospital 2, Ho Chi Minh city, Vietnam
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Department of Radiology, Hanoi Medical University, Hanoi, Vietnam
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Summary
Primary hepatic neuroendocrine tumor (PHNET) is a rare type of neuroendocrine tumor (NET) that is also a primary hepatic tumor. Patients are present with almost no specific clinical symptoms and typically present with negative test results and atypical imaging characteristics; therefore, the differentiation of PHNET from other types of primary hepatic masses can be very difficult. In this article, we describe a case of PHNET that mimicked a liver helminth infection in a 57-year-old man. The diagnosis of PHNET in this patient was challenging, and the final diagnosis was based on imaging, histopathology features, and long-term follow-up.
Learning points
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An uncommon type of neuroendocrine tumor (NET) is a primary hepatic neuroendocrine tumor (PHNET).
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Primary hepatic neuroendocrine tumors are rare NET lesions found in the liver, characterized by non-specific clinical and imaging results, which can be easily confused with other liver lesions, including HCC and parasitic lesions.
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To have a conclusive diagnosis and classification, a mixture of many medical assessment techniques, such as imaging, gastrointestinal endoscopy, nuclear medicine, anatomy, including histopathology, and immunohistochemistry, is essential.
