Ignasiak-Budzyńska Katarzyna, Danko Mikołaj, Książyk Janusz
Department of Paediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw 04-730, Poland.
Case Rep Gastrointest Med. 2021 Mar 30;2021:6612983. doi: 10.1155/2021/6612983. eCollection 2021.
MMIHS, also known as Berdon's syndrome, is a rare disease that belongs to primary causes of CIPOS (chronic intestinal pseudoobstruction syndrome). Clinical characteristics of MMIHS are differential, but we come across the following classic symptoms: disorders of intestinal peristalsis, microcolon, and megacystis. In this article, we present a series of 4 patients with Berdon's syndrome, in whom we managed to identify the genetic causes of MMIHS. All infants showed clinical features of bowel obstruction and dysfunction of the urinary system after birth. Two of them also manifested disorders from other systems. The prognosis for these patients is poor, but a constant betterment of management in MMIHS, in which the leading role plays TPN (total parental nutrition), causes improvement of patients' survival.
MMIHS，也称为伯登综合征，是一种罕见疾病，属于慢性肠假性梗阻综合征（CIPOS）的主要病因。MMIHS的临床特征各不相同，但我们遇到过以下典型症状：肠道蠕动紊乱、小结肠和巨膀胱。在本文中，我们介绍了4例伯登综合征患者，我们成功确定了MMIHS的遗传病因。所有婴儿出生后均表现出肠梗阻和泌尿系统功能障碍的临床特征。其中2例还出现了其他系统的紊乱。这些患者的预后较差，但MMIHS的治疗管理不断改善（其中全肠外营养（TPN）起主要作用），使患者的生存率得到提高。
