Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate.
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.
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.|Department of Pediatrics, Takatsuki General Hospital, Takatsuki, Japan.
Yuya
Y
Hashimura
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Ichiro
I
Morioka
Division of Pediatric Surgery, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.
Chieko
C
Hisamatsu
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.|Department of Pediatrics, Akashi Medical Center, Akashi, Japan.
Naoki
N
Yokoyama
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Mariko
M
Taniguchi-Ikeda
Department of Pathology, Kobe University Graduate School of Medicine, Kobe, Japan.
Hiroshi
H
Yokozaki
Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Kei
K
Murayama
Department of Pediatrics, Saitama Medical University, Saitama, Japan.
Akira
A
Ohtake
Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Kyoko
K
Itoh
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.|Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.
Yasuhiro
Y
Takeshima
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Kazumoto
K
Iijima
D002908:Chronic Disease; D030401:Cytochrome-c Oxidase Deficiency / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D003937:Diagnosis, Differential; D004386:Duodenum; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis / Q000209:etiology*; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D011860:Radiography, Abdominal; D014463:Ultrasonography
chronic intestinal pseudo-obstruction; mitochondrial respiratory chain disorder; neonate; nerve plexus