Al Azmi Fayez, Al Shaikh Adnan
Division of Endocrinology, Pediatric Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Oman Med J. 2020 Jul 30;35(4):e154. doi: 10.5001/omj.2020.75. eCollection 2020 Jul.
Hypoglycemia is a frequent problem in infants and children, causing a significant dilemma to reach the correct diagnosis and perform the appropriate management. Congenital hyperinsulinism is the most common cause of hypoglycemic hyperinsulinemia in infants and is due to beta-cell hyperplasia caused by genetic defects. This is a well-known genetically and clinically heterogeneous condition causing severe hypoglycemia in infants. Insulin-secreting tumors (insulinoma) are rare findings during childhood. In contrast, insulinoma is the most common form of endogenous hypoglycemic hyperinsulinemia in the adult population. Here we present a successful diagnosis and treatment of a nine-year-old Saudi child who presented for the first time with severe episodes of hypoglycemia at age seven. Critical samples at the time of hypoglycemia confirmed the associated hyperinsulinemia state. Initially, the child responded well to anti-insulin medications at small doses, but with time the disease became progressive in severity requiring a high dose of anti-insulin medications, frequent glucagon injections, and hospital admission for intravenous dextrose infusion. After two years of seeking therapy in many hospitals, the final diagnosis was confirmed to be an insulinoma, which was removed surgically, resulting in a complete cure and full recovery. Here we report the first published case of insulinoma in a young child aged < 15 years old in Saudi Arabia, their disease course, final diagnostic steps, and curative therapy. We conclude that hypoglycemia in children is challenging in terms of diagnosis and management. Although insulinoma is very rare in children, it requires significant time and effort by a pediatrician, pediatric endocrinologist, patients, and parents to reach the final diagnosis and carefully preserve the integrity of the neurological state of those children.
低血糖是婴幼儿和儿童中的常见问题,在做出正确诊断和进行适当治疗方面造成了重大难题。先天性高胰岛素血症是婴幼儿低血糖性高胰岛素血症的最常见原因,由遗传缺陷导致的β细胞增生引起。这是一种众所周知的遗传和临床异质性疾病,可导致婴幼儿严重低血糖。胰岛素分泌肿瘤(胰岛素瘤)在儿童期较为罕见。相比之下,胰岛素瘤是成年人群中内源性低血糖性高胰岛素血症的最常见形式。在此,我们报告了一名9岁沙特儿童的成功诊断和治疗案例,该儿童7岁时首次出现严重低血糖发作。低血糖发作时的关键样本证实了相关的高胰岛素血症状态。起初,患儿对小剂量抗胰岛素药物反应良好,但随着时间推移,病情逐渐加重,需要大剂量抗胰岛素药物、频繁注射胰高血糖素,并住院接受静脉输注葡萄糖治疗。在多家医院寻求治疗两年后,最终确诊为胰岛素瘤,并通过手术切除,实现了完全治愈和康复。我们在此报告沙特阿拉伯首例年龄小于15岁幼儿胰岛素瘤的病例、其病程、最终诊断步骤及治愈性治疗。我们得出结论,儿童低血糖在诊断和治疗方面具有挑战性。尽管胰岛素瘤在儿童中非常罕见,但儿科医生、儿科内分泌学家、患者及其家长需要花费大量时间和精力才能做出最终诊断,并谨慎保护这些儿童的神经状态完整性。