Abstract：
BACKGROUND: CHARGE syndrome (CS) is an autosomal dominant genetic condition whose recognition in the neonatal period is complicated by considerable phenotypic variability. Pediatric patients with genetic disorders have a known high incidence of hypoglycemia, due to many concurring factors. To date, neonatal hypoglycemia is a feature poorly explored in the literature associated with CS. This paper adds to the existing literature on hypoglycemia in CS and provides a brief review of the mechanisms through which CS, as well as the main genetic syndromes associated with neonatal hypoglycemia, may determine it.
METHODS: The patient was a term newborn, first-born daughter to non-consanguineous parents. At birth, axial hypotonia with slight hypertonia of the limbs, and dysplastic auricles were noted. The incidental finding of asymptomatic hypoglycemia led to the initiation of glucose infusion on the II day of life, continued for a total of 8 days (maximum infusion rate: 8 mg/kg/min). In-depth endocrinological examinations showed poor cortisol response to the hypoglycemic stimulus, with normal GH values, thyroid function and ACTH. In view of the suspected hypoadrenalism, oral hydrocortisone therapy was initiated. Inappropriately low values of plasmatic and urinary ketones supported the hypothesis of concomitant transient hyperinsulinism, not requiring therapy. A brain MRI was performed, documenting thinning of the optic nerves, non-displayable olfactory bulbs and dysmorphic corpus callosum. An eye examination revealed bilateral chorioretinal coloboma. Temporal bone CT scan showed absence of the semicircular canals. The unexpected findings of coloboma and absence of semicircular canals led to the suspicion of CS, later confirmed by the molecular analysis of CHD7.
CONCLUSIONS: It seems important to consider CS in the differential diagnosis of persistent hypoglycemia in newborns with specific anomalies. At the same time, it is advisable to consider the risk of hypoglycemia in children with CS, as well as other genetic syndromes. Awareness of the many possible causes of hypoglycemia in newborns with genetic conditions may help steer the investigations, allowing for an appropriate and timely treatment.
METHODS: The patient was a term newborn, first-born daughter to non-consanguineous parents. At birth, axial hypotonia with slight hypertonia of the limbs, and dysplastic auricles were noted. The incidental finding of asymptomatic hypoglycemia led to the initiation of glucose infusion on the II day of life, continued for a total of 8 days (maximum infusion rate: 8 mg/kg/min). In-depth endocrinological examinations showed poor cortisol response to the hypoglycemic stimulus, with normal GH values, thyroid function and ACTH. In view of the suspected hypoadrenalism, oral hydrocortisone therapy was initiated. Inappropriately low values of plasmatic and urinary ketones supported the hypothesis of concomitant transient hyperinsulinism, not requiring therapy. A brain MRI was performed, documenting thinning of the optic nerves, non-displayable olfactory bulbs and dysmorphic corpus callosum. An eye examination revealed bilateral chorioretinal coloboma. Temporal bone CT scan showed absence of the semicircular canals. The unexpected findings of coloboma and absence of semicircular canals led to the suspicion of CS, later confirmed by the molecular analysis of CHD7.
CONCLUSIONS: It seems important to consider CS in the differential diagnosis of persistent hypoglycemia in newborns with specific anomalies. At the same time, it is advisable to consider the risk of hypoglycemia in children with CS, as well as other genetic syndromes. Awareness of the many possible causes of hypoglycemia in newborns with genetic conditions may help steer the investigations, allowing for an appropriate and timely treatment.
摘要：
背景：CHARGE综合征（CS）是一种常染色体显性遗传病，其在新生儿期的识别由于相当大的表型变异性而变得复杂。患有遗传性疾病的儿科患者已知低血糖的发生率很高，由于许多共同因素。迄今为止,新生儿低血糖是一项在CS相关文献中很少探讨的特征.本文补充了关于CS低血糖的现有文献，并简要回顾了CS的机制，以及与新生儿低血糖相关的主要遗传综合征，可以确定它。
方法：患者是足月新生儿，非近亲父母的第一个女儿。出生时,轴向张力减退伴四肢轻度张力增高，并注意到发育不良的耳廓。无症状性低血糖的偶然发现导致在生命的第2天开始输注葡萄糖，持续总共8天（最大输注速率：8mg/kg/min）。深入的内分泌检查显示皮质醇对低血糖刺激的反应较差，具有正常的GH值，甲状腺功能和ACTH。鉴于可疑的肾上腺素不足，开始口服氢化可的松治疗.血浆和尿酮的不适当低值支持伴随的短暂性高胰岛素血症的假设。不需要治疗。做了脑部核磁共振,记录视神经的变薄，不可显示的嗅球和变形体。眼部检查显示双侧脉络膜视网膜缺损。颞骨CT扫描显示半规管缺失。结肠瘤的意外发现和半规管的缺失导致对CS的怀疑，后来通过CHD7的分子分析证实。
结论：在具有特定异常的新生儿中，在持续性低血糖的鉴别诊断中考虑CS似乎很重要。同时,建议考虑CS儿童低血糖的风险，以及其他遗传综合征。了解遗传条件新生儿低血糖的许多可能原因可能有助于指导研究，允许适当和及时的治疗。
方法：患者是足月新生儿，非近亲父母的第一个女儿。出生时,轴向张力减退伴四肢轻度张力增高，并注意到发育不良的耳廓。无症状性低血糖的偶然发现导致在生命的第2天开始输注葡萄糖，持续总共8天（最大输注速率：8mg/kg/min）。深入的内分泌检查显示皮质醇对低血糖刺激的反应较差，具有正常的GH值，甲状腺功能和ACTH。鉴于可疑的肾上腺素不足，开始口服氢化可的松治疗.血浆和尿酮的不适当低值支持伴随的短暂性高胰岛素血症的假设。不需要治疗。做了脑部核磁共振,记录视神经的变薄，不可显示的嗅球和变形体。眼部检查显示双侧脉络膜视网膜缺损。颞骨CT扫描显示半规管缺失。结肠瘤的意外发现和半规管的缺失导致对CS的怀疑，后来通过CHD7的分子分析证实。
结论：在具有特定异常的新生儿中，在持续性低血糖的鉴别诊断中考虑CS似乎很重要。同时,建议考虑CS儿童低血糖的风险，以及其他遗传综合征。了解遗传条件新生儿低血糖的许多可能原因可能有助于指导研究，允许适当和及时的治疗。
