Octreotide is considered a second-line treatment for congenital hyperinsulinism unresponsive to diazoxide. Necrotizing enterocolitis (NEC) is a serious adverse effect of octreotide, typically occurring in a dose-dependent manner. Here, we report a case of necrotizing enterocolitis following a single administration of a very low dose of octreotide. A female infant was admitted on day 3 of life with severe hypoglycemia. Laboratory findings revealed hyperinsulinemia and hypoketotic hypoglycemia, confirming a diagnosis of congenital hyperinsulinism. Despite diazoxide therapy, adequate glycemic control was not achieved. As a second-line intervention, a single subcutaneous injection of octreotide (1.6 μg/kg) was administered. Two days post-administration, the patient developed abdominal distension and significant vomiting. NEC was diagnosed, necessitating bowel decompression surgery. Subsequent 18F-DOPA positron emission tomography/computed tomography revealed a focal lesion extending from the pancreatic head to the body. The lesion was successfully resected with preservation of nearly the entire normal pancreas. This case highlights that even a very low dose of octreotide may precipitate necrotizing enterocolitis, warranting close monitoring. Lesion localization using 18F-DOPA positron emission tomography/computed tomography is critical in guiding surgical management of congenital hyperinsulinism.

Allgrove syndrome (AS), an uncommon multisystem disorder, is characterized by the classic clinical triad of alacrimia, achalasia, and adrenal insufficiency, and is typically limited to glucocorticoid deficiency with preserved mineralocorticoid (MC) function. Here, we present the case of a 5-yr-old girl with alacrimia since birth, failure to thrive, and generalized hyperpigmentation for the past two years, who presented to the emergency department with an altered sensorium. Upon admission, the patient was found to have hypoglycemia and hyponatremia. After subsequent evaluation, the patient was diagnosed with phenotypically incomplete AS with mineralocorticoid insufficiency and harbored a novel homozygous mutation in exon 7 of the AAAS gene (c.618del; p.Ser207LeufsTer84). Treatment with hydrocortisone and fludrocortisone yielded remarkable outcomes. Given the variable presentations of this condition, a high index of clinical suspicion and awareness of atypical features are essential for early diagnosis and initiation of coordinated care to prevent unnecessary morbidity and mortality. When AS is suspected, molecular genetic testing should be performed to confirm the diagnosis, plan management, and provide genetic counseling.

Osteogenesis imperfecta (OI) is a congenital skeletal disorder characterized by varying degrees of bone fragility and deformities. Extraskeletal manifestations, such as blue sclera, dentinogenesis imperfecta, growth disturbance, hearing impairment, and muscle weakness, occasionally accompany OI. Many genes have been identified as causative of OI, such as the type I collagen gene and genes involved in the folding, processing, and crosslinking of type I collagen molecules, osteoblast differentiation, and bone mineralization. According to the discovery of the causative gene of OI, nosology and classifications have also been revised and the “dyadic approach” based nomenclature according to the severity and each causative gene of OI was recently adopted. Intravenous or oral bisphosphonates have been administered to treat bone fragility in children with OI and a reduction in the frequency of bone fractures has been reported. However, despite the increase of bone mineral density, evidence of bone fracture prevention is limited. Recently, excessive transforming growth factor β signaling pathway and excessive endoplasmic reticulum stress have been reported as the pathogenesis of OI, and treatment strategies based on these pathogeneses have been developed. This review summarizes the molecular basis, transition of nosology and classification, status of bisphosphonate therapy, and development of treatment strategies.