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Enlarged Bladder
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
In the first trimester, megacystis should raise the suspicion of either chromosomal abnormalities or obstructive uropathy. Approximately 20% of fetuses with megacystis measuring between 7 and 15 mm have an underlying chromosomal abnormality such as trisomy 13 or 18. The majority of the fetuses with normal karyotype show spontaneous resolution of the bladder enlargement and have a normal outcome. If the bladder measures >15 mm, the risk of an underlying bladder outlet obstruction such as urethral atresia, posterior urethral valves, or cloacal abnormalities is very high and is associated with poor prognosis. In these fetuses it would be common to find abnormal kidneys (echogenic or dysplastic) along with significant reduction in the liquor volume even in the first trimester.
Gastroenterology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
There is a lack of normal intestinal motility due to a neuromuscular pathology of the intestine. Pathologies affect either the nerves, muscles or the interstitial cells of Cajal. Examples include the presence of additional muscle layers (for example with X-linked FLNA mutations), abnormalities of smooth muscle contractile proteins and of myocyte phenotype, qualitative and quantitative abnormalities of enteric nerves and inflammatory pathologies including infectious and autoimmune disease. Hollow visceral myopathy is a myopathic variant that affects the urinary tract as well as the intestine. Megacystis, microcolon hypoperistalsis syndrome is a more severe rare form of pseudo-obstruction.
Genito-Urinary Tract Anomalies
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
Sometimes, hydronephrosis may produce large cystic lesions where little of the original renal structure can be identified. In these instances, differentiation from multicystic kidney may be impossible. The finding of dilated minor calyces may suggest multicystic disease, but the prominent and dilated renal pelvis is the key in such cases. There may also be obstruction of the urethra, in the posterior urethral valves, for example. Posterior urethral valves (Potter type IV) affects male fetuses almost exclusively (Figure 6). Here, one finds megacystis with secondary hydro-urethra and hydronephrosis. The anomaly is potentially treatable in utero and, therefore, discussed in detail in Chapter 3, Volume II.
Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation
Published in Fetal and Pediatric Pathology, 2021
Alyssa Kalsbeek, Renee Dhar-Dass, Abdul Hanan, Eman Al-Haddad, Iman William, Adina Alazraki, Janet Poulik, Kasey McCollum, Aya Almashad, Bahig M. Shehata
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) was first described in 1976 by Walter Berdon et al. The disorder is characterized by markedly dilated non-obstructed bladder, also known as megacystis, decreased or absent intestinal peristalsis, and microcolon [1]. This intestinal dysfunction often leads to difficulty in achieving proper nutrition and requires TPN (total parenteral nutrition) or a multiorgan transplant for longer survival. Despite progressions in treatment MMHIS still has significant morbidity and mortality [2]. Familial studies support an autosomal recessive inheritance pattern and a strong preponderance of females, due to increased severity and lethality in males [3,4]. Familial inheritance also shows a female predisposition to MMIHS in consanguineous parents which has implications for genetic counseling and treatment options [5]. Genes affecting smooth muscle function and contraction that have been associated with MMIHS include MYH11, MYLK, ACTG2, LMOD1, MYL9, PDCL3 [5, 6]. Of the five cases presented here, four had gene mutations involving chromosome 15q24 which has been previously but infrequently identified in the literature. The other identified case presented with a new missense mutation which to our knowledge has not been described in the literature in a patient with MMIHS. This report evaluates the implications of the preceding gene mutations on the prognosis and survival of patients with MMIHS, while also proposing an approach of using early genotype identification to aid in planning treatment options and predicting survival outcomes.
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report
Published in Fetal and Pediatric Pathology, 2018
Elif Ünver Korğalı, Amine Yavuz, Cemile Ece Çağlar Şimşek, Cengiz Güney, Hande Küçük Kurtulgan, Burak Başer, Mehmet Haydar Atalar, Hatice Özer, Hatice Reyhan Eğilmez
Wangler at al. reported 10 MMIHS patients with various de novo mutations in the ACTG2 gene. Seven patients were diagnosed with megacystis prenatally, 5 with microcolon and 8 patients had abdominal surgery. Seven patients had bilious emesis in the neoanatal period. Seven patients had dependency on TPN and 8 patients required bladder catheterization. Therefore, Wangler at al. stated that all of the apparent de novo cases had clear indications of severe smooth muscle disease with prenatal or neonatal onset, urinary catheterization and dependence on TPN (15). The current patient had all of these reported findings. In the light of these data, the c.532C>A /p.Arg178Ser heterozygous de novo change can be considered responsible for the clinical findings in this case. However, since this is the first identification of this mutation, additional patients are needed to further assess the effects of this mutation.
Comparison of Prenatal and Postmortem Diagnoses from 251 Fetal Autopsies: High Rate of Placenta Pathologies, Low Rate of Discrepancies
Published in Fetal and Pediatric Pathology, 2023
Jan-Theile Suhren, Kais Hussein, Hans Kreipe, Nora Schaumann
In case #4 a pregnant woman underwent extracorporeal membrane oxygenation therapy (ECMO) due to severe COVID-19 pneumonia. The fetus died secondary to hypoxia after maternal COVID-19 pneumonia in the 28th week of gestation, five days after beginning of ECMO and two weeks after the infection of the mother. The mother died shortly after. Initially, no malformations were detectable but one day before IUFD an enlarged bladder and reduced amniotic fluid were detected. The autopsy confirmed the megacystis, but also revealed a bilateral megaureter, hydronephrosis and associated lung hypoplasia as major additional findings. Immunohistochemistry for SARS-CoV-2 spike protein and nucleocapsid protein of the fetus and placenta was negative.