Korğalı Elif Ünver, Yavuz Amine, Şimşek Cemile Ece Çağlar, Güney Cengiz, Kurtulgan Hande Küçük, Başer Burak, Atalar Mehmet Haydar, Özer Hatice, Eğilmez Hatice Reyhan
a Cumhuriyet University , Faculty of Medicine, Department of Pediatrics , Sivas , Turkey.
b Cumhuriyet Universitesi , Department of Pediatric Surgery , Sivas , Turkey.
Fetal Pediatr Pathol. 2018 Apr;37(2):109-116. doi: 10.1080/15513815.2018.1445149. Epub 2018 Apr 2.
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although the definitive cause remains unknown, changes in the ACTG2 gene are thought to be responsible for the intestinal and bladder hypoperistalsis.
This female newborn with MMIHS had a c.532C>A /p.Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene. Normal immature ganglion cells, normal calretinin punctate positivity, maintence of smooth muscle actin immunoreactivity, and decreased numbers of interstitial cells of Cajal(ICCs) were detected.
This previously unreported c.532C>A /p.Arg178Ser heterozygous de novo mutation in the ACTG2 gene may lead to a severe form of MMIHS.
巨膀胱小结肠肠蠕动减少综合征（MMIHS）的特征是膀胱扩张但无尿路梗阻、肠道蠕动减少或消失以及小结肠。尽管确切病因尚不清楚，但ACTG2基因的变化被认为是肠道和膀胱蠕动减少的原因。
这名患有MMIHS的女新生儿在ACTG2基因中检测到c.532C>A /p.Arg178Ser杂合新发突变。检测到正常的未成熟神经节细胞、正常的钙视网膜蛋白点状阳性、平滑肌肌动蛋白免疫反应性维持以及 Cajal 间质细胞（ICC）数量减少。
ACTG2基因中这种先前未报道的c.532C>A /p.Arg178Ser杂合新发突变可能导致严重形式的MMIHS。
