title: Unusual exocrine complication of pancreatitis in mitochondrial disease.
abstract: No association between mitochondrial disease and pancreatitis has yet been established, although diabetes mellitus and diseases caused by exocrine insufficiency, such as Pearson syndrome, are the commonest pancreatic complications of mitochondrial diseases. Here, we report 2 cases of mitochondrial disease complicated by pancreatitis as an unusual pancreatic exocrine manifestation. One patient was a 10-year-old girl with mild retardation of psychomotor development who had experienced recurrent pancreatitis since the age of 4years. Chronic progressive external ophthalmoplegia (CPEO) due to m.8344A>G mutation was diagnosed when the patient was 10years old. The other patient was a 28-year-old woman who was diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) due to m.3243A>G mutation at 10years of age. She had experienced regular recurrent vomiting since the age of 16 and suffered an episode of critical pancreatitis at 23years. In both cases, no possible etiological, morphological, or genetic factors for pancreatitis were identified, including anomalous pancreaticobiliary duct. A combination therapy of the standard treatment for chronic pancreatitis and supportive therapy for mitochondrial energy production may be beneficial to prevent the recurrence of acute pancreatitis complicating mitochondrial diseases. The pathophysiological mechanism of pancreatitis in mitochondrial disease has not been adequately established; however, our observations suggest that pancreatitis should be included in the list of pancreatic complications of mitochondrial disease.
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Akihiko
authors.initials: A
authors.lastname: Ishiyama
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Takashi
authors.initials: T
authors.lastname: Saito
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Itagaki
authors.forename: Koji
authors.initials: K
authors.lastname: Matsuzaki
authors.forename: Michiaki
authors.initials: M
authors.lastname: Nakura
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D010195:Pancreatitis / Q000209:etiology*