Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo‐obstruction in a neonate |
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| Authors: | Chieko Hisamatsu Naoki Yokoyama Mariko Taniguchi‐Ikeda Hiroshi Yokozaki Kei Murayama Akira Ohtake Kyoko Itoh Yasuhiro Takeshima Kazumoto Iijima |
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| Affiliation: | 1. Division of Pediatric Surgery, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan;2. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan;3. Department of Pediatrics, Akashi Medical Center, Akashi, Japan;4. Department of Pathology, Kobe University Graduate School of Medicine, Kobe, Japan;5. Department of Metabolism, Chiba Children's Hospital, Chiba, Japan;6. Department of Pediatrics, Saitama Medical University, Saitama, Japan;7. Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Kyoto, Japan;8. Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan |
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| Abstract: | ![]()
A female infant born at 36 weeks gestational age with birthweight 2135 g, and who developed respiratory disorder, hyperlactacidemia and hypertrophic cardiomyopathy after birth, was admitted to hospital at 3 days of age. After admission, bilious emesis, abdominal distention, and passage disorder of the gastrointestinal tract were resistant to various drugs. Exploratory laparotomy was performed at 93 days of age, but no organic lesions were identified and normal Meissner/Auerbach nerve plexus was confirmed, which led to a clinical diagnosis of chronic intestinal pseudo‐obstruction (CIPO). She was diagnosed with mitochondrial respiratory chain complex IV deficiency on histopathology of the abdominal rectus muscle and enzyme activity measurement. This is the first report of a neonate with mitochondrial respiratory chain complex deficiency with intractable CIPO. CIPO can occur in neonates with mitochondrial respiratory chain disorder, necessitating differential diagnosis from Hirschsprung disease. |
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| Keywords: | chronic intestinal pseudo‐obstruction mitochondrial respiratory chain disorder neonate nerve plexus |
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