Gonda Kenji, Tachiya Yosuke, Hatakeyama Yuichi, Momma Tomoyuki, Tamaoki Tomoko, Maejima Yuko, Rokkaku Yuichi, Saji Shigehira, Shimomura Kenju, Kono Koji
Department of Genetics, Fukushima Medical University, 1 Hikarigaoka, Fukushima City, Fukushima, 960-1295, Japan.
Clinical Oncology Center, Fukushima Medical University Hospital, 1 Hikarigaoka, Fukushima City, Fukushima, 960-1295, Japan.
J Med Case Rep. 2018 Oct 26;12(1):312. doi: 10.1186/s13256-018-1823-8.
Poland syndrome is a congenital malformation characterized by ipsilateral hand and chest wall depression, including an absence or hypoplasia of the breast and pectoral muscles. These hypoplastic defects are reportedly caused by a subclavian artery supply disruption sequence.
A 45-year-old Japanese woman, an out-patient, underwent an emergency examination for intense left lower abdominal pain. Computed tomography images revealed a hydronephrotic left kidney and dilatation of the left ureter. No ureteral calculus or neoplasm was found. In addition, no abnormalities connected to her left abdominal pain were found. Nephritis was diagnosed based on the results of urine analysis, and a course of antibiotics was administered. Computed tomography images also revealed a history of breast reconstruction with a custom-made silicone implant in her right breast. The present case showed symptoms of Poland syndrome, which were absence of the sternal head of the right pectoralis major and asymmetrical malformation of the chest wall due to hypoplasia of the right rib cage. In addition to typical Poland syndrome symptoms, she had hypoplasia of her right kidney, hypoplasia of the right gluteus minimus muscle, right-sided pelvic hypoplasia, spinal curvature to the right, and a cystic mass in her right ovary.
In the present case of Poland syndrome, computed tomography images revealed malformation of the chest wall, absence of the pectoral muscle, and hypoplasia of a left kidney. Unilateral visceral hypoplasia is reported to be caused by a subclavian artery supply disruption sequence that occurs around 7 to 8 weeks of gestation. The present case can be considered a rare atypical phenotype of Poland syndrome with possible subclavian artery supply disruption sequence with internal iliac artery supply disruption.
波兰综合征是一种先天性畸形，其特征为同侧手部和胸壁凹陷，包括乳房和胸肌缺如或发育不全。据报道，这些发育不全性缺陷是由锁骨下动脉供血中断序列引起的。
一名45岁的日本门诊女性因左下腹部剧痛接受了急诊检查。计算机断层扫描图像显示左肾积水和左输尿管扩张。未发现输尿管结石或肿瘤。此外，未发现与她左腹痛相关的异常情况。根据尿液分析结果诊断为肾炎，并给予了一个疗程的抗生素治疗。计算机断层扫描图像还显示她右乳曾使用定制硅胶植入物进行乳房重建。本病例表现出波兰综合征的症状，即右胸大肌胸骨头缺如以及由于右肋骨发育不全导致的胸壁不对称畸形。除了典型的波兰综合征症状外，她还存在右肾发育不全、右臀小肌发育不全、右侧骨盆发育不全、脊柱向右侧弯曲以及右卵巢囊肿。
在本波兰综合征病例中，计算机断层扫描图像显示胸壁畸形、胸肌缺如和左肾发育不全。据报道，单侧内脏发育不全是由妊娠7至8周左右发生的锁骨下动脉供血中断序列引起的。本病例可被视为波兰综合征的一种罕见非典型表型，可能伴有锁骨下动脉供血中断序列以及髂内动脉供血中断。
