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.
| Original language | English |
|---|---|
| Pages (from-to) | 651-655 |
| Number of pages | 5 |
| Journal | Pediatrics International |
| Volume | 58 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - 01-07-2016 |
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All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
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Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate. / Hashimura, Yuya; Morioka, Ichiro; Hisamatsu, Chieko; Yokoyama, Naoki; Ikeda, Mariko; Yokozaki, Hiroshi; Murayama, Kei; Ohtake, Akira; Itoh, Kyoko; Takeshima, Yasuhiro; Iijima, Kazumoto.
In: Pediatrics International, Vol. 58, No. 7, 01.07.2016, p. 651-655.Research output: Contribution to journal › Article
TY - JOUR
T1 - Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate
AU - Hashimura, Yuya
AU - Morioka, Ichiro
AU - Hisamatsu, Chieko
AU - Yokoyama, Naoki
AU - Ikeda, Mariko
AU - Yokozaki, Hiroshi
AU - Murayama, Kei
AU - Ohtake, Akira
AU - Itoh, Kyoko
AU - Takeshima, Yasuhiro
AU - Iijima, Kazumoto
PY - 2016/7/1
Y1 - 2016/7/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84979686949&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84979686949&partnerID=8YFLogxK
U2 - 10.1111/ped.12907
DO - 10.1111/ped.12907
M3 - Article
C2 - 27264907
AN - SCOPUS:84979686949
VL - 58
SP - 651
EP - 655
JO - Pediatrics International
JF - Pediatrics International
SN - 1328-8067
IS - 7
ER -