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Cloacal Exstrophy

OEIS Complex


Presentation

  • Besides urogenital anomalies, the fetus presented with an additional small muscular ventricular septal defect.[ncbi.nlm.nih.gov]
  • Clinical description Patients present at birth with two exstrophied hemibladders separated by a foreshortened hindgut (often blind-ending resulting in an imperforate anus) or cecum.[orpha.net]
Wheelchair Bound
  • Patients with ICAs were more likely to be wheelchair-bound, suggesting worse neurologic outcomes. 2013.[ncbi.nlm.nih.gov]
  • The functional deficits in the cloacal exstrophy patient can vary widely from almost normal sensation of the pelvis and lower extremity to severe impairments rendering the patient wheelchair bound.[pediatricurologybook.com]
Weight Gain
  • The patient with short bowel syndrome demonstrated significant improvement in nutritional status as evidenced by rapid weight gain and improvement in serum albumin level.[ncbi.nlm.nih.gov]
Failure to Thrive
  • Symptoms present before the operation included: hyperchloremic acidosis (6), urinary tract infections (6), failure to thrive (5), sepsis (1), dehydration (1), and TPN dependent (1). There was resolution of these symptoms post-operatively.[ncbi.nlm.nih.gov]
Melena
  • Although intravesical pressures were not documented because of the nature of her reconstruction, her ACS-type findings were (1) abdominal pain, (2) melena, (3) pulmonary hypoinflation, (4) renal insufficiency, (5) tachycardia, and (6) segmental ischemic[ncbi.nlm.nih.gov]
Subcutaneous Mass
  • A 2-year-old girl presented with repaired cloacal exstrophy and a subcutaneous mass at the midline of the lumbosacral region.[ncbi.nlm.nih.gov]
Long Arm
  • The karyotype showed a de novo unbalanced translocation between the long arm of chromosome 9 and the long arm of chromosome Y resulting in a 9q34.1-qter deletion.[ncbi.nlm.nih.gov]
Osteoporosis
  • PURPOSE: In this study, the prevalence of osteoporosis was evaluated in patients operated on for cloacal exstrophy or persistent cloaca and who had undergone bladder augmentation.[ncbi.nlm.nih.gov]
Hyperreflexia
  • The patient showed an improvement in the lower-extremity hyperreflexia postoperatively.[ncbi.nlm.nih.gov]

Treatment

  • It demonstrates also that only a minority (19%) of the European centres involved in the treatment of exstrophy can be considered "high volume" exstrophy centres.[ncbi.nlm.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • It is important for perinatal management and parental counseling to understand the magnetic resonance (MR) imaging features essential for correctly diagnosing the clinical condition and predicting the prognosis of fetal patients.[ncbi.nlm.nih.gov]
  • While not usually lethal, cloacal exstrophy often carries a poor prognosis where a series of operations are often required.[radiopaedia.org]
  • Generally, if no complications arise and the treatment is successful, the prognosis can be good Preventative measures for the condition are not well understood and ongoing research may help understand the condition better.[dovemed.com]

Etiology

  • A retrospective descriptive study of omphalocele and exstrophic defects of the abdominal wall was carried out in Manitoba to determine the prevalence of these defects, changes in birth incidence with time and their etiologic heterogeneity.[ncbi.nlm.nih.gov]
  • Etiology EC results from an anomaly during early embryologic development associated with rupture of the cloacal membrane before fusion with the urorectal septum.[orpha.net]

Epidemiology

  • Summary Epidemiology Prevalence at birth for EEC is reported at 1/10,000.[orpha.net]
  • Due to its rarity, the use of a nonspecific diagnostic code for case identification, and lack of validation of the clinical findings, cloacal exstrophy remains an epidemiologic challenge.[rug.nl]
  • Birth Defects Epidemiology and Surveillance Branch,. Texas, USA. Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Estudio Colaborativo Latino Americano de Malformaciones Congénitas.[arca.fiocruz.br]
Sex distribution
Age distribution

Pathophysiology

  • Gearhart, Ranjiv Mathews Springer Science & Business Media, 31.07.1999 - 252 Seiten This book contains the most up-to-date scientific information on the anatomy, physiology, and pathophysiology of the bladder muscle, nerves, and collagen in the patient[books.google.de]
  • Risk Factors Bladder exstrophy: only known association is related to offspring of in vitro fertilization pregnancies Pathophysiology Embryology Normal development By week 2 of gestation, the cloacal membrane is located at the caudal end of the infraumbilical[unboundmedicine.com]
  • Another possible mechanism resulting in a similar pathophysiology could be a defect in a genetic switch which results in premature senescence of the infra-umbilical membrane (analogous to an ischemic injury).[clinicalgate.com]
  • Epispadias is a variant that displays normal bladder formation but incomplete urethral tubularization from the bladder neck down. [1] Pathophysiology The true cause of bladder exstrophy has not been elucidated.[emedicine.medscape.com]

Prevention

  • Abdominal reconstruction was performed for a series of recurrent and primary (preventive) cases.[ncbi.nlm.nih.gov]
  • […] for Disease Control and Prevention (CDC).[mblynchfirm.com]
  • Generally, if no complications arise and the treatment is successful, the prognosis can be good Preventative measures for the condition are not well understood and ongoing research may help understand the condition better.[dovemed.com]

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