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Segmental absence of intestinal musculature with metachronous bowel perforations in an infant

Oyachi, Noboru (Department of Pediatric Surgery, Yamanashi Prefectural Central Hospital, Kofu, Japan ) ; Suzuki, Takeyuki (Department of Pediatric Surgery, Yamanashi Prefectural Central Hospital, Kofu, Japan ) ; Emura, Takaki (Department of Pediatric Surgery, Yamanashi Prefectural Central Hospital, Kofu, Japan ) ; Obana, Kazuko (Department of Pediatric Surgery, Yamanashi Prefectural Central Hospital, Kofu, Japan ) ; Nemoto, Atsushi (Department of Neonatology, Yamanashi Prefectural Central Hospital, Kofu, Japan ) ; Naito, Atsushi (Department of Neonatology, Yamanashi Prefectural Central Hospital, Kofu, Japan ) ; Oyama, Toshio (Department of Pathology, Yamanashi Prefectural Central Hospital, Kofu, Japan ) ;
  • 초록  

    Abstract Segmental absence of intestinal musculature is a rare condition. A female patient was born at 39 weeks gestational age with birth weight of 2,900 g. The patient was prenatally diagnosed as having segmental bowel distension in the fetal stage. She manifested bilious emesis with abdominal distension at day 1. Although excretion of viscous meconium was observed by gastrografin enema, gastrointestinal perforation developed. Emergency laparotomy and peritoneal drainage was required at that time and further laparotomy was performed on day 15. Multiple perforations were recognized discontinuously from the jejunum to the transverse colon, and jejunostomy was constructed. Additional bowel perforations occurred and re-exploration was required at day 43. We found newly formed small perforations in the proximal jejunum, ileum and the transverse colon and a tube jejunostomy and a colostomy were established. The patient required prolonged TPN management, which induced correlated cholestasis and liver failure, and died at day 143. Pathologic findings showed partial hypoplasia of the intrinsic muscle layer in the small intestine and diagnosed as segmental absence of intestinal musculature. Her disorder was unusual in its presentation, which included prenatal bowel dilatation, metachronous superimposed bowel perforation, and extensive discrete lesions from the jejunum to the transverse colon. Highlights Segmental absence of intestinal musculature (SAIM) is a rare condition. We report here a female neonatal patient with this condition. Her disorder was unusual in its presentation and the clinical course. Prenatal bowel dilatation and metachronous superimposed perforation was occurred. Extensive discrete lesions were found from the jejunum to the transverse colon.


  • 주제어

    Intestinal perforation .   Congenital defect .   Muscular layer .   Segmental absence of intestinal musculature (SAIM).  

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