PDF(Pubmed)
Abstract：
The 1p36 deletion syndrome involves a phenotypic presentation that includes central nervous system, cardiac, and craniofacial anomalies. We report the case of a 21-year-old female patient with 1p36 deletion syndrome who was found to have noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) after hospitalization for persistent falls. On admission, vital signs were normal and physical examination revealed a thin, nonverbal patient. During hospitalization and prolonged fasting (14-18 hours), she persistently developed hypoglycemia (serum glucose nadir 57 mg/dL [3.2 mmol/L] [70-100 mg/dL; 3.9-5.6 mmol/L]). Subjective symptoms of hypoglycemia were not confirmed due to patient\'s cognitive impairment. Hypoglycemic events continued despite feeding and dextrose-containing fluids. Further workup included a critical sample that revealed a serum glucose 59 mg/dL (3.3 mmol/L), insulin 20.6 μIU/mL (123.6 pmol/L [5-15 μIU/mL; 30.0-90 pmol/L]), proinsulin 33 pmol/L (3.6-22 pmol/L), C-peptide 1.74 ng/mL (0.58 nmol/L [0.8-3.85 ng/mL; 0.27-1.28 nmol/L]) and beta-hydroxybutyrate < 1.04 mg/dL (< 0.10 mmol/L; [< 4.2 mg/dL; < 0.4 mmol/L]). Insulin antibodies were negative. After confirmed insulin-mediated hypoglycemia, imaging studies followed. Pancreatic protocol abdominal computed tomography (CT), Ga-68 DOTATATE PET/CT scan, and endoscopic ultrasound found no pancreatic mass. Selective arterial calcium stimulation test showed a two-fold increase in insulin levels in 3/3 catheterized pancreatic territories. The patient started octreotide injections with resolution of hypoglycemia and was discharged on monthly lanreotide injections. To our knowledge, this is the first case reported of noninsulinoma pancreatogenous hypoglycemia in a patient with 1p36 deletion syndrome.
摘要：
1p36缺失综合征涉及包括中枢神经系统的表型表现，心脏,和颅面异常.我们报告了一名21岁的1p36缺失综合征女性患者，该患者因持续跌倒住院后被发现患有非胰岛素瘤胰腺源性低血糖综合征（NIPHS）。一入场,生命体征正常，体格检查显示，非语言患者。在住院期间和长时间禁食（14-18小时），她持续出现低血糖（血清葡萄糖最低点57mg/dL[3.2mmol/L][70-100mg/dL;3.9-5.6mmol/L]）。由于患者的认知障碍，未证实低血糖的主观症状。尽管进食和含葡萄糖的液体，低血糖事件仍在继续。进一步的检查包括一个关键的样本，显示血清葡萄糖59毫克/分升（3.3毫摩尔/升），胰岛素20.6μIU/mL（123.6pmol/L[5-15μIU/mL;30.0-90pmol/L]），胰岛素原33pmol/L（3.6-22pmol/L），C-肽1.74ng/mL(0.58nmol/L[0.8-3.85ng/mL;0.27-1.28nmol/L])和β-羟基丁酸<1.04mg/dL(<0.10mmol/L;<4.2mg/dL;<0.4mmol/L)。胰岛素抗体阴性。在确认胰岛素介导的低血糖后，随后进行成像研究。胰腺方案腹部计算机断层扫描（CT），Ga-68DOTATATEPET/CT扫描,超声内镜没有发现胰腺肿块。选择性动脉钙刺激试验显示，在3/3导管插入的胰腺区域中，胰岛素水平增加了两倍。患者开始注射奥曲肽以缓解低血糖，并每月注射兰瑞肽出院。据我们所知,这是1例1p36缺失综合征患者非胰岛素瘤胰腺源性低血糖的报告。
