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 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.

Congenital Hyperinsulinaemic Hypoglycaemia—A Review and Case Presentation

“…A second-line drug is the somatostatin analogue octreotide [ 6 , 39 , 40 ], whose mechanism involves binding to somatostatin receptors 2 and 5 (SSTR2 and SSTR5). SSTR5 activation reduces the insulin gene promoter activity, inhibits calcium mobilisation and acetylcholine activity.…”

“…The starting dose is 5 μg/kg/day, administered subcutaneously or as a continuous infusion at 6 to 8 h intervals, with a maximum dose of 30–35 μg/kg/day. Continuous subcutaneous infusion with an insulin pump is an alternative to surgery in patients with monoallelic K ATP channel mutations [ 39 , 40 ]. The initial response to octreotide administration is usually hyperglycemia, followed by a blunted effect after 48 h (tachyphylaxis).…”

“…Glucagon can also be used in the treatment of HI [ 6 , 39 ]. It is administered intravenously or subcutaneously [ 2 ]; however, the subcutaneous route may be difficult to handle due to catheter obstruction occurring every 2 to 3 days, or even daily [ 47 , 48 ].…”

“…Histologically, CHI is divided into limited and diffuse forms, the differentiation of which is important in planning surgical treatment [ 6 , 27 , 30 , 39 , 55 ]. It is important to distinguish between the limited and diffuse forms, as in the former case surgical removal of the lesion offers the possibility of complete cure for the patient [ 6 , 29 , 55 ].…”

“…If the location is not reached, a pancreatic tail resection for further histologic evaluation is recommended [ 60 , 61 ]. Treatment consists of the excision of the focal lesion [ 6 , 39 , 55 ]. Laparoscopic removal is the method of choice when the lesion is located in the body or tail.…”