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Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of chromosomal abnormalities associated with fetal megacystis which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Chromosome Aberrations; Urinary Bladder; Duodenum; Fetal Diseases
PubMed: 38216262
DOI: 10.1016/j.tjog.2023.11.006 -
Nature Communications Jan 2024Prune belly syndrome (PBS), also known as Eagle-Barret syndrome, is a rare, multi-system congenital myopathy primarily affecting males. Phenotypically, PBS cases...
Prune belly syndrome (PBS), also known as Eagle-Barret syndrome, is a rare, multi-system congenital myopathy primarily affecting males. Phenotypically, PBS cases manifest three cardinal pathological features: urinary tract dilation with poorly contractile smooth muscle, wrinkled flaccid ventral abdominal wall with skeletal muscle deficiency, and intra-abdominal undescended testes. Genetically, PBS is poorly understood. After performing whole exome sequencing in PBS patients, we identify one compound heterozygous variant in the PIEZO1 gene. PIEZO1 is a cation-selective channel activated by various mechanical forces and widely expressed throughout the lower urinary tract. Here we conduct an extensive functional analysis of the PIEZO1 PBS variants that reveal loss-of-function characteristics in the pressure-induced normalized open probability (NPo) of the channel, while no change is observed in single-channel currents. Furthermore, Yoda1, a PIEZO1 activator, can rescue the NPo defect of the PBS mutant channels. Thus, PIEZO1 mutations may be causal for PBS and the in vitro cellular pathophysiological phenotype could be rescued by the small molecule, Yoda1. Activation of PIEZO1 might provide a promising means of treating PBS and other related bladder dysfunctional states.
Topics: Male; Humans; Prune Belly Syndrome; Mutation; Muscle Contraction; Muscle, Skeletal; Muscle, Smooth; Ion Channels
PubMed: 38184690
DOI: 10.1038/s41467-023-44594-0 -
Plastic and Reconstructive Surgery.... Apr 2024Reconstruction of the abdominal wall in patients with prune-belly syndrome (PBS) following previous intra-abdominal procedures is a challenging problem with a high...
BACKGROUND
Reconstruction of the abdominal wall in patients with prune-belly syndrome (PBS) following previous intra-abdominal procedures is a challenging problem with a high incidence of revision due to persistent bulging or herniation. The abdominal wall flaccidity not only produces a severe psychological and aesthetic discomfort for the patient but often determines functional disabilities, including inability to cough properly, impaired bowel and bladder function, and delay in posture and balance.
METHODS
The authors describe three cases of reconstruction of abdominal wall using a modified double-breasted abdominoplasty fascial plication with additional acellular dermal matrix interposition and review the literature for innovations in the use of abdominal repair for reconstruction of these difficult cases.
RESULTS
Three children with PBS at a mean age of 7.3 years achieved successful reconstruction of the abdominal wall, using the modified double-breasted abdominoplasty fascial plication with acellular dermal matrix interposition. Patients underwent previous procedures, including orchiopexy in two patients and bilateral nephrectomy in one patient. No postoperative complications have been found, apart from superficial skin dehiscence along the abdominal incision treated conservatively in one child. At mean follow-up of 42 months (range 28-56 months), no patient presented incisional hernia, persistent or recurrent fascial laxity with abdominal bulging. All patients achieved significant aesthetic and functional improvements, including children's ability to cough, spontaneous gain of abdominal tonus, balance, and ambulation.
CONCLUSION
Modification of the original vertical, two-layer plications of the deficient abdominal interposing biological mesh has the purpose of improving strength, aesthetics, and function of the abdominal wall in pediatric patients with PBS.
PubMed: 38645635
DOI: 10.1097/GOX.0000000000005744 -
Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of syndromic and single gene disorders associated with fetal megacystis which is useful for genetic counseling at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Colon; Fetal Diseases; Urinary Bladder; Intestinal Pseudo-Obstruction; Duodenum
PubMed: 38216263
DOI: 10.1016/j.tjog.2023.11.007 -
Archives of Gynecology and Obstetrics Jan 2024To assess the spectrum of underlying pathologies, the intrauterine course and postnatal outcome of 46 fetuses with megacystis that underwent intrauterine vesico-amniotic...
OBJECTIVES
To assess the spectrum of underlying pathologies, the intrauterine course and postnatal outcome of 46 fetuses with megacystis that underwent intrauterine vesico-amniotic shunting (VAS) with the Somatex® shunt in a single center.
METHODS
Retrospective analysis of 46 fetuses with megacystis that underwent VAS either up to 14 + 0 weeks (early VAS), between 14 + 1 and 17 + 0 weeks (intermediate VAS) or after 17 + 0 weeks of gestation (late VAS) in a single tertiary referral center. Intrauterine course, underlying pathology and postnatal outcome were assessed and correlated with the underlying pathology and gestational age at first VAS.
RESULTS
46 fetuses underwent VAS, 41 (89%) were male and 5 (11%) were female. 28 (61%) fetuses had isolated and 18 (39%) had complex megacystis with either aneuploidy (n = 1), anorectal malformations (n = 6), cloacal malformations (n = 3), congenital anomalies overlapping with VACTER association (n = 6) or Megacystis-Microcolon Intestinal-Hypoperistalsis Syndrome (MMIHS) (n = 2). The sonographic 'keyhole sign' significantly predicted isolated megacystis (p < 0.001). 7 pregnancies were terminated, 4 babies died in the neonatal period, 1 baby died at the age of 2.5 months and 34 (74%) infants survived until last follow-up. After exclusion of the terminated pregnancies, intention-to-treat survival rate was 87%. Mean follow-up period was 24 months (range 1-72). The underlying pathology was highly variable and included posterior urethral valve (46%), hypoplastic or atretic urethra (35%), MMIHS or prune belly syndrome (10%) and primary vesico-ureteral reflux (2%). In 7% no pathology could be detected postnatally. No sonographic marker was identified to predict the underlying pathology prenatally. 14 fetuses underwent early, 24 intermediate and 8 late VAS. In the early VAS subgroup, amnion infusion prior to VAS was significantly less often necessary (7%), shunt complications were significantly less common (29%) and immediate kidney replacement therapy postnatally became less often necessary (0%). In contrast, preterm delivery ≤ 32 + 0 weeks was more common (30%) and survival rate was lower (70%) after early VAS compared to intermediate or late VAS. Overall, 90% of liveborn babies had sufficient kidney function without need for kidney replacement therapy until last follow-up, and 95% had sufficient pulmonary function without need for mechanical respiratory support. 18% of babies with complex megacystis suffered from additional health restrictions due to their major concomitant malformations.
CONCLUSIONS
Our data suggest that VAS is feasible from the first trimester onward. Early intervention has the potential to preserve neonatal kidney function in the majority of cases and enables neonatal survival in up to 87% of cases. Despite successful fetal intervention, parents should be aware of the potential of mid- or long-term kidney failure and of additional health impairments due to concomitant extra-renal anomalies that cannot be excluded at time of intervention.
Topics: Pregnancy; Infant, Newborn; Infant; Humans; Male; Female; Retrospective Studies; Amnion; Ultrasonography, Prenatal; Fetus; Urethra
PubMed: 36604332
DOI: 10.1007/s00404-022-06905-6 -
SAGE Open Medical Case Reports 2024Prune belly syndrome is a rare disorder that occurs mainly in men. It is characterized by the triad of deficient abdominal wall muscles, the dilated urinary collecting...
Prune belly syndrome is a rare disorder that occurs mainly in men. It is characterized by the triad of deficient abdominal wall muscles, the dilated urinary collecting system, bilateral cryptorchidism, and infertility. It mainly affects the genitourinary system, which involves the prognosis. We present the case of a preterm neonate male whose diagnosis of a prune belly was suspected in antenatal ultrasound. He had a urinary tract abnormality starting at 22 weeks of gestation. At birth, a clinical examination revealed a distended abdomen within a wrinkled and flaccid abdominal wall, a macropenis, and bilateral cryptorchidism. A urinary tract ultrasound revealed a right pyelocaliciel dilatation and a right megaureter with a megacystis. The neonate ultimately died due to severe renal failures. Prune Belly syndrome is a complex disease with a high mortality rate. Early antenatal ultrasound may ameliorate the prognosis.
PubMed: 38812837
DOI: 10.1177/2050313X241258850 -
Case Reports in Urology 2023Prune belly syndrome (PBS) is a rare congenital anomaly characterized by a triad of abdominal flaccidity, varying degrees of urinary system involvement, and...
Prune belly syndrome (PBS) is a rare congenital anomaly characterized by a triad of abdominal flaccidity, varying degrees of urinary system involvement, and cryptorchidism. The exact cause of PBS is unknown. Clinical symptoms can range from stillbirth to significant renal and respiratory abnormalities to almost normal children. Treatment typically involves surgical repair of the abdominal wall defect and urinary tract abnormalities, early orchiopexy, and supportive management of related problems. We report the first case of a female newborn with PBS following in vitro fertilization-induced pregnancy with a comprehensive systematic review of all relevant cases.
PubMed: 38073712
DOI: 10.1155/2023/5521590 -
Journal of Surgical Case Reports Oct 2023We present a case of simultaneous second-stage Fowler-Stephens Orchiopexy (FSO) with microvascular testicular autotransplantation for cryptorchidism and in a patient...
We present a case of simultaneous second-stage Fowler-Stephens Orchiopexy (FSO) with microvascular testicular autotransplantation for cryptorchidism and in a patient with prune belly syndrome. At 5 months old, the patient underwent laparoscopic bilateral first-stage FSO with the right testicle located 1 cm from the liver and the left slightly more caudal. An ultrasound on postoperative Day 72 following second-stage FSO and microvascular autotransplantation showed patent testicular vasculature. Our experience shows that this combination technique is safe and effective to supercharge the testicle and augment collateral vessels if clinical suspicion for monotherapy failure is high.
PubMed: 37901606
DOI: 10.1093/jscr/rjad588 -
Cureus Dec 2023The deletion of the DIS3L2 gene causes the extremely uncommon congenital overgrowth syndrome, known as Perlman syndrome, which is autosomal recessive. Polyhydramnios,...
The deletion of the DIS3L2 gene causes the extremely uncommon congenital overgrowth syndrome, known as Perlman syndrome, which is autosomal recessive. Polyhydramnios, macrosomia, facial dysmorphism, renal dysplasia, and several congenital abnormalities with Wilms tumor propensity are its defining features. Beckwith-Wiedemann syndrome (BWS), prune belly syndrome (PBS), and Simpson-Golabi-Behmel syndrome (SGBS1) have certain similar clinical characteristics with Perlman syndrome. The syndrome is often associated with a high neonatal mortality rate and there are few reports of long-term survivors. Here, we present a case with the classic clinical features of Perlman syndrome and a DIS3L2 gene deletion that was discovered prenatally.
PubMed: 38161545
DOI: 10.7759/cureus.49777