Prune belly syndrome associated with cloacal anomaly, patent urachal remnant, and omphalocele in a female infant

Giuliani, Stefano; Vendryes, Christopher; Malhotra, Ajay; Shaul, Donald B.; Anselmo, Dean M.

doi:10.1016/j.jpedsurg.2010.07.054

Cited by 19 publications

(15 citation statements)

References 20 publications

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“…Cisapride was proposed as a therapy for MMIHS in 1991 [14]. Subsequent case reports have noted failure of cisapride to produce clinical improvement in MMIHS [39], [40]. However in our cohort three patients out of five who had been prescribed cisapride reported improved motility by subjective clinical improvement.…”

Section: Discussionmentioning

confidence: 51%

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

et al. 2014

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Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger sequencing in a cohort of patients with MMIHS and intestinal pseudo-obstruction. We identified heterozygous ACTG2 missense variants in 15 unrelated subjects, ten being apparent de novo mutations. Ten unique variants were detected, of which six affected CpG dinucleotides and resulted in missense mutations at arginine residues, perhaps related to biased usage of CpG containing codons within actin genes. We also found some of the same heterozygous mutations that we observed as apparent de novo mutations in MMIHS segregating in families with intestinal pseudo-obstruction, suggesting that ACTG2 is responsible for a spectrum of smooth muscle disease. ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease.

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Section: Discussionmentioning

confidence: 51%

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

et al. 2014

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“…Although pro-kinetic agents and alimentation have prolonged life in some cases, but the longterm outcome remains poor. 9 The aetiology of MMIHS is unknown. Several reports have mentioned defective autonomic innervations but variety of genetic, myogenic and hormonal factors are also discussed.…”

Section: Discussionmentioning

confidence: 99%

“…Considering the poor prognosis of MMIHS compared to PBS, it would be very important to differentiate these two entities. 9 We report two cases of MMIHS that referred to our paediatric surgery department with prune belly like syndrome and discuss their clinical course and outcome.…”

Section: Introductionmentioning

confidence: 96%

Megacystis-Microcolon–Intestinal Hypoperistalsis Syndrome

2010

High-Yield Imaging: Gastrointestinal

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“…Urachal anomalies have been shown to be associated with other midline genitourinary conditions such as prune belly syndrome or omphalocele, though these have typically been isolated case reports and the etiology of this association has not been clearly defined [15,29,30]. Other associated conditions include lower tract obstruction such as posterior urethral valves, for which a proximal urachal anomaly may act as a pop-off mechanism; however, associations have been rare in the literature [31,32].…”

Section: Clinical Presentationmentioning

confidence: 99%

Diagnosis and Management of Urachal Anomalies in Children

Arora

Donohoe

2015

Curr Bladder Dysfunct Rep

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Congenital urachal anomalies are present in less than 2 % of the general pediatric population. While traditionally thought of as pre-malignant, their clinical significance particularly in the asymptomatic patient has been questioned. The presence of a urachal anomaly in childhood does not appear to confer an increased risk of urachal cancer in adulthood. These remnants are classified based upon their anatomic location and communication with either the umbilicus or bladder and may present with a variety of symptoms. When clinical signs and symptoms suggest the presence of an urachal anomaly, ultrasonography is the most appropriate initial diagnostic imaging test. Observation with or without follow-up imaging is an acceptable initial step in management as these often regress without surgical intervention particularly in asymptomatic patients. When infectious symptoms are present, a course of antibiotics may be recommended prior to surgery to reduce the chance of postoperative wound infection.

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Prune belly syndrome associated with cloacal anomaly, patent urachal remnant, and omphalocele in a female infant

Cited by 19 publications

References 20 publications

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Megacystis-Microcolon–Intestinal Hypoperistalsis Syndrome

Diagnosis and Management of Urachal Anomalies in Children

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