Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.
Neonatal Intensive Care Unit, Children's Hospital Affiliated to Shandong University, Jinan, China.
Medicine (Baltimore). 2023 Oct 6;102(40):e35449. doi: 10.1097/MD.0000000000035449.
KBG syndrome (KBGS, OMIM: 148050), a rare genetic disorder, is clinically characterized by megalodontia, short stature, skeletal abnormalities, and nervous system manifestations. In the study, we explore the clinical and genetic characteristics of one neonate suffering KBGS caused by ANKRD11 gene mutation.
The proband, a female, was born prematurely at 31 + 2 weeks. There were repeated infections and abdominal distension in the first month after birth, and the platelets could not rise to normal. Head ultrasound showed intracranial brain injury and intracranial hemorrhage.
Sequencing revealed that there was a heterozygous mutation in exon 9 of the ANKRD11 gene (NM_013275.5) for the child, c.1896_1897delTA (p.H632Qfs*30), which was a de novo mutation and has not been reported. Combining clinical features and genetic results, the proband was diagnosed as KBGS.
The brain sonography on day 4 after birth showed brain injury and intracranial hemorrhage. Therefore, 140 mg of bovine lung surfactant was administered through endotracheal intubation in addition to ventilator-assisted ventilation. Antibiotic treatment was also given till the inflammatory indicators of the infant returned to normal levels. The following-up of 1-year-6-month showed that the language, motion and height of development is slight falling behind the children of the same age.
This is the first case of KBGS was diagnosed in the neonatal period, which provides a reference for the child to receive timely and correct treatment.
KBG 综合征（KBGS，OMIM：148050）是一种罕见的遗传性疾病，临床上以巨牙症、身材矮小、骨骼异常和神经系统表现为特征。本研究探讨了 1 例由 ANKRD11 基因突变引起的新生儿 KBG 综合征的临床和遗传特征。
先证者为女性，孕 31+2 周早产。出生后第 1 个月反复感染和腹胀，血小板无法升至正常。头颅超声显示颅内脑损伤和颅内出血。
测序显示患儿 ANKRD11 基因exon 9 存在杂合突变（NM_013275.5），c.1896_1897delTA（p.H632Qfs*30），为新生突变，尚未见报道。结合临床特征和遗传结果，先证者诊断为 KBG 综合征。
出生后第 4 天的脑超声显示脑损伤和颅内出血。因此，在呼吸机辅助通气的基础上，通过气管内插管给予 140mg 牛肺表面活性剂。给予抗生素治疗，直至婴儿的炎症指标恢复正常。随访 1 年 6 个月时发现，该患儿的语言、运动和身高发育稍落后于同龄儿童。
这是首例在新生儿期诊断的 KBG 综合征病例，为患儿及时正确治疗提供了参考。
