Immaturity of Ganglia in Familial Onset: Three Cases of Twins and Their Brother.

introductionImmaturity of ganglia (IG) is a rare disease and is classified as a type of allied disorders of Hirschsprung's disease (HSCR). Recently, familial occurrence of HSCR has often been reported. However, there have been very few reports of familial occurrence of IG. We report 3 cases of intrafamilial occurrence of IG. CASE PRESENTATION: Case 1 was an older brother. He was born vaginally at 40 weeks and 6 days of gestation, weighing 3658 g. No prenatal diagnosis was made. On the day of birth, abdominal distention appeared, and a gastric tube was inserted. On the 1st day of life, colonography showed microcolons throughout the colon. We diagnosed gastrointestinal obstruction or Hirschsprung's disease and performed surgery on the same day. Cases 2 and 3 were monozygotic twins. They were born vaginally at 37 weeks and 0 days, weighing 2778 and 2810 g, respectively. Neither of them had a prenatal diagnosis. On the 1st day of life, abdominal distention, malfeeding, and delayed evacuation of feces were observed, and colonography was performed. Due to the presence of microcolons throughout the colon, we decided to operate on them. In all 3 cases, ileostomies were created, and the stomas were closed after 6 months. They began oral intake and infusion early on, and anal defecation was established. Also, immature ganglion cells were confirmed by HuC/D staining during the 1st operation. At the time of stoma closure, we confirmed that ganglion cells had matured.

conclusionsIG, like HSCR, may have intrafamilial onset. Therefore, early diagnosis and treatment planning are important. Also, a careful explanation to the family is essential.