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摘要: 本文报道Kagami-Ogata综合征早产儿1例。该患儿胎龄30周, 产前超声提示羊水过多, 胎儿双顶径及腹围偏大, 侧脑室、双肾盂及多处肠管增宽。出生后查体可见下颌小, 鼻梁塌, 鼻孔上翻, 胸廓呈"窄钟形", 腹壁可见腹直肌分离及肠型; 胸部X线片见肋骨呈"衣架征"; 超声示双侧脑室增宽, 双肾积水, 隐睾; 甲状腺功能检查提示先天性甲状腺功能减退。出生后第6天获得产前羊水穿刺结果, 发现在已知的基因组印记区域14q32.2存在母源大小约为268.2 kb的微缺失。根据产前羊水穿刺结果及患儿出生后临床表现确诊为Kagami-Ogata综合征。予以呼吸机辅助通气、营养支持、抗感染等针对性治疗后, 患儿病情无明显好转, 最终家属放弃治疗。本文总结该患儿的诊疗经过并结合文献复习, 以期提升临床医生对该病的认知。Abstract: This paper reports a case of Kagami-Ogata syndrome in a preterm infant with gestational age of 30 weeks. Prenatal ultrasonography suggested excess amniotic fluid, large biparietal diameter and abdominal circumference, and widening of the lateral ventricles, renal pelvis, and intestinal tubes in several places. Postnatal examination showed a small jaw, collapsed nose, and upturned nostrils; the chest was narrow and bell-shaped, and the abdominal wall showed diastasis recti and a bowel pattern. Chest radiographs showed "hanger sign" ribs. Ultrasound showed widening of the lateral ventricles, hydronephrosis in both kidneys and cryptorchidism. Thyroid function tests suggested congenital hypothyroidism. Prenatal amniocentesis results obtained on day 6 after birth revealed the presence of a microdeletion of approximately 268.2 kb in the known genomic imprinted region 14q32.2 from the mother. The diagnosis of Kagami-Ogata syndrome was confirmed on the basis of the prenatal amniocentesis results and the clinical presentation of the infant after birth. The family gave up treatment after the infant was treated with ventilator, nutritional support, and antibiotics without significant improvement. In this paper, we summarize the diagnosis and treatment of this infant and review the literature inorder to enrich the clinical knowledge of this disease.
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Key words:
- Kagami-Ogata syndrome /
- omphalocele /
- coat hanger rib /
- hydramnios /
- imprinted gene /
- maternal imprint
作者贡献：全美盈负责论文撰写；孙之星、姜静婧、蒋宇林负责提供专业指导并提出修改意见；李正红负责论文修订。利益冲突：所有作者均声明不存在利益冲突注：本研究发表已获得患儿家属同意。 -
[1] Ogata T, Kagami M. Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region[J]. J Hum Genet, 2016, 61: 87-94. doi: 10.1038/jhg.2015.113 [2] Reis A, Dittrich B, Greger V, et al. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes[J]. Am J Hum Genet, 1994, 54: 741-747. [3] Prasasya R, Grotheer KV, Siracusa LD, et al. Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms[J]. Hum Mol Genet, 2020, 29: R107-R116. doi: 10.1093/hmg/ddaa133 [4] Kagami M, Matsubara K, Nakabayashi K, et al. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome[J]. Genet Med, 2017, 19: 476-482. doi: 10.1038/gim.2016.123 [5] Kagami M, Kurosawa K, Miyazaki O, et al. Comprehensive clinical studies in 34 patients with molecularly defined UPD (14) pat and related conditions (Kagami-Ogata syndrome)[J]. Eur J Hum Genet, 2015, 23: 1488-1498. doi: 10.1038/ejhg.2015.13 [6] Sakaria RP, Mostafavi R, Miller S, et al. Kagami-Ogata Syndrome: Case Series and Review of Literature[J]. AJP Rep, 2021, 11: e65-e75. doi: 10.1055/s-0041-1727287 [7] Molinet Coll C, Sabrià Bach J, Izquierdo Renau M, et al. Prenatal diagnosis of Kagami-Ogata syndrome[J]. J Clin Ultrasound, 2021, 49: 498-501. doi: 10.1002/jcu.22942 [8] Kuriki A, Hosoya S, Ozawa K, et al. Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome[J]. J Obstet Gynaecol Res, 2022, 48: 3314-3318. doi: 10.1111/jog.15425 -
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