Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate

作者：Hashimura Yuya; Morioka Ichiro^*; Hisamatsu Chieko; Yokoyama Naoki; Taniguchi Ikeda Mariko; Yokozaki Hiroshi; Murayama Kei; Ohtake Akira; Itoh Kyoko; Takeshima Yasuhiro; Iijima Kazumoto

来源：Pediatrics International, 2016, 58(7): 651-655.

DOI：10.1111/ped.12907

• chronic intestinal pseudo-obstruction
• mitochondrial respiratory chain disorder
• neonate
• nerve plexus

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.

• 出版日期2016-7