Congenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare case
Abstract Background Congenital hyperinsulinism (CH) is a rare disease, characterized by severe hypoglycemia induced by inappropriate insulin secretion from pancreatic beta-cells in neonate and infant. Hirschsprung’s disease (HD) is also a rare disease in which infants show severe bowel movement diso...
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| Language: | English |
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Japan Surgical Society
2020-01-01
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| Series: | Surgical Case Reports |
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| Online Access: | https://doi.org/10.1186/s40792-020-0778-3 |
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| author | Takeshi Shono Kumiko Shono Yoshiko Hashimoto Shohei Taguchi Masanori Masuda Kastumi Muramori Tomoaki Taguchi |
| author_facet | Takeshi Shono Kumiko Shono Yoshiko Hashimoto Shohei Taguchi Masanori Masuda Kastumi Muramori Tomoaki Taguchi |
| author_sort | Takeshi Shono |
| collection | DOAJ |
| description | Abstract Background Congenital hyperinsulinism (CH) is a rare disease, characterized by severe hypoglycemia induced by inappropriate insulin secretion from pancreatic beta-cells in neonate and infant. Hirschsprung’s disease (HD) is also a rare disease in which infants show severe bowel movement disorder. We herein report an extremely rare case of combined CH and HD. Case presentation The patient was a full-term male infant who showed poor feeding, vomiting, and hypotonia with lethargy on the day of birth. He was transferred to tertiary hospital after a laboratory analysis revealed hyperinsulinemic hypoglycemia. The patient showed remarkable abdominal distension without meconium defecation. An abdominal X-ray showed marked dilatation of the large bowel. He was diagnosed with CH (nesidioblastosis) associated with suspected HD. He was initially treated with an intravenous infusion of high-dose glucose with the intermittent injection of glucagon. This was successfully followed by treatment with diazoxide and octreotide (a somatostatin analog). At 8 months of age, HD was confirmed by the acetylcholinesterase staining of a rectal mucosal biopsy specimen, and a transanal pull-through operation was performed to treat HD. At 14 months of age, subtotal pancreatectomy was performed for the treatment of focal CH located in the pancreatic body. His postoperative course over the past 12 years has been uneventful without any neurologic or bowel movement disorders. Conclusions Although it is extremely rare for CH to be associated with HD, associated HD should be considered when a patient with CH presents severe constipation. |
| format | Article |
| id | doaj-art-26d49f2f775f4df6b5b58d7ca0435bae |
| institution | Kabale University |
| issn | 2198-7793 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Japan Surgical Society |
| record_format | Article |
| series | Surgical Case Reports |
| spelling | doaj-art-26d49f2f775f4df6b5b58d7ca0435bae2025-08-20T03:33:07ZengJapan Surgical SocietySurgical Case Reports2198-77932020-01-01611410.1186/s40792-020-0778-3Congenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare caseTakeshi Shono0Kumiko Shono1Yoshiko Hashimoto2Shohei Taguchi3Masanori Masuda4Kastumi Muramori5Tomoaki Taguchi6Department of Pediatric Surgery, National Hospital Organization, Kokura Medical CenterDepartment of Pediatric Surgery, National Hospital Organization, Kokura Medical CenterDepartment of Pediatric Surgery, National Hospital Organization, Kokura Medical CenterDepartment of Pediatric Surgery, Kitakyushu Medical CenterDepartment of Pathology, Saga-ken Medical Center KoseikanDepartment of Pediatric Surgery, Saga-ken Medical Center KoseikanDepartment of Pediatric Surgery, Kyushu UniversityAbstract Background Congenital hyperinsulinism (CH) is a rare disease, characterized by severe hypoglycemia induced by inappropriate insulin secretion from pancreatic beta-cells in neonate and infant. Hirschsprung’s disease (HD) is also a rare disease in which infants show severe bowel movement disorder. We herein report an extremely rare case of combined CH and HD. Case presentation The patient was a full-term male infant who showed poor feeding, vomiting, and hypotonia with lethargy on the day of birth. He was transferred to tertiary hospital after a laboratory analysis revealed hyperinsulinemic hypoglycemia. The patient showed remarkable abdominal distension without meconium defecation. An abdominal X-ray showed marked dilatation of the large bowel. He was diagnosed with CH (nesidioblastosis) associated with suspected HD. He was initially treated with an intravenous infusion of high-dose glucose with the intermittent injection of glucagon. This was successfully followed by treatment with diazoxide and octreotide (a somatostatin analog). At 8 months of age, HD was confirmed by the acetylcholinesterase staining of a rectal mucosal biopsy specimen, and a transanal pull-through operation was performed to treat HD. At 14 months of age, subtotal pancreatectomy was performed for the treatment of focal CH located in the pancreatic body. His postoperative course over the past 12 years has been uneventful without any neurologic or bowel movement disorders. Conclusions Although it is extremely rare for CH to be associated with HD, associated HD should be considered when a patient with CH presents severe constipation.https://doi.org/10.1186/s40792-020-0778-3Congenital hyperinsulinismNesidioblastosisHirschsprung’s diseaseDiazoxideOctreotide |
| spellingShingle | Takeshi Shono Kumiko Shono Yoshiko Hashimoto Shohei Taguchi Masanori Masuda Kastumi Muramori Tomoaki Taguchi Congenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare case Surgical Case Reports Congenital hyperinsulinism Nesidioblastosis Hirschsprung’s disease Diazoxide Octreotide |
| title | Congenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare case |
| title_full | Congenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare case |
| title_fullStr | Congenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare case |
| title_full_unstemmed | Congenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare case |
| title_short | Congenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare case |
| title_sort | congenital hyperinsulinism associated with hirschsprung s disease a report of an extremely rare case |
| topic | Congenital hyperinsulinism Nesidioblastosis Hirschsprung’s disease Diazoxide Octreotide |
| url | https://doi.org/10.1186/s40792-020-0778-3 |
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