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Mitochondrial DNA (mtDNA) depletion syndrome comprises diseases resulting from a deficiency of proteins involved in mtDNA synthesis. MPV17 is a mitochondrial membrane protein whose mutation causes mitochondrial deoxynucleotide insufficiency. MPV17-related hepatocerebral mtDNA depletion syndrome is a rare autosomal recessive disease. This case report describes the clinical manifestations of MPV17-related hepatocerebral mtDNA depletion syndrome analyzed by performing whole-exome sequencing (WES). A 17-month-old girl presented with developmental delay, jaundice, and failure to thrive. The laboratory findings revealed cholestatic hepatitis, increased lactate-to-pyruvate ratio, and prolongation of the prothrombin time. She developed a hypoglycemic seizure. Brain magnetic resonance imaging revealed extensive demyelination of the white matter. WES detected the p.Leu151fs and p.Pro98Leu variants in MPV17. Her parents and sibling were found to be MPV17 heterozygous carriers. She was administered supportive treatment, such as replacement of fat-soluble vitamins and cornstarch to prevent further hypoglycemic events. The patient is currently being considered for liver transplantation. Overall, WES can help diagnose hepatocerebral mtDNA depletion syndrome in patients with hepatopathy, developmental delay, lactic acidosis, and hypomyelination based on brain magnetic resonance imaging.

Fascioliasis is a zoonotic disease caused by Fasciola hepatica that infects mainly cattle, sheep, and goats. Humans can be infected by water or aquatic plants contaminated with metacercariae. The authors encountered two cases of F. hepatica infection. One patient reported abdominal discomfort with marked eosinophilia. The other patient had chest discomfort with marked eosinophilia. The abdominal CT images revealed hypodense lesions in the liver. The ultrasonography-guided liver biopsy findings in both patients were indicative of parasitic infections. Serological tests confirmed the definite diagnoses. Both patients were treated with a single dose of triclabendazole, which is the treatment of choice for fascioliasis. These findings suggest that a diagnosis of fascioliasis, particularly in the acute phase, should be considered in patients with abdominal pain, marked eosinophilia, and hypodense hepatic lesions on CT.

Mycoplasma pneumoniae (M. pneumoniae) is a major cause of community acquired respiratory infections. And it also causes a number of extrapulmonary manifestations including cardiovascular, dermatological, musculoskeletal, and hematological systems. But, acute hepatitis without lung involvement is rare in adults. Here, we report a case of 32-year-old man who presented with fever, chilling, myalgia, and headache. Biochemical analysis showed severely impaired liver function and leukopenia. Laboratory tests and liver biopsy demonstrated a hepatocellular pattern of M. pneumoniae-associated acute hepatitis. Clinical symptoms and laboratory parameters are improved rapidly under treatment with macrolide. Therefore, We recommend that phsycians should consider a possibility of M. pneumoniae infection in acute hepatitis without lung and extrapulmonary involvement, when other more frequent causes have been excluded.

Trichuris trichiura infection is a common helminth infection, which is transmitted via soil, with worldwide distribution, especially in rural areas of developing countries. Occasionally, sporadic cases occur in non-endemic, developed areas due to the widespread of immigration. We experienced a case of Trichuris dysentery syndrome in a young North Korean defector, who had been suffering from chronic abdominal pain for 10 years. He is relatively short and thin compared with his older brother. Unexpectedly, the diagnosis, made by a colonoscopy, revealed numerous, small, white, and gently moving worms at the cecum and ascending colon. After 3 days of albendazole (400 mg once daily) administration, clinical symptoms subsided dramatically. On the follow-up colonoscopy, which was performed two months after the completion of his treatment, complete eradication was identified. Soil-transmitted helminths, including Trichuris trichiura, are disappearing becoming less prevalent in South Korea as a result of both national driving force and environmental improvement. However, these diseases should be considered when we meet foreign patients from developing countries, like North Korea, presenting chronic abdominal pain. Moreover, proper treatment of North Korean defectors and performing cohort studies of them would help to prepare for the possible unification era in the field of gastroenterology.