A case report of Potter’s syndrome in a newborn

Introduction. Potter’s sequence is a very rare and severe syndromic complex that includes congenital kidney defects leading to oligohydramnios, lung hypoplasia and structural skeletal disorders. Clinical case presentation: observation of a boy born from the 5th pregnancy to the mother at 37 weeks. Antenatally, the fetus was found to have bilateral renal and urinary bladder agenesis, malformations of the limbs, but the parents refused to terminate the pregnancy. After birth, the child was diagnosed with Potter’s syndrome with severe hypoplasia of the lungs, which required mechanical ventilation. In 2 hours after birth, the child developed a tension pneumothorax, which was arrested by performing drainage of the pleural cavity. During the day, the patient received complex treatment in the intensive care unit, despite which, by the 2nd day of life, the death of the child occurred. Currently, there are no guidelines for the treatment of Potter syndrome with proven positive long-term outcomes.Discussion. Children with Potter syndrome do not have the same set of symptoms, but they develop a chain of events leading to a common ultimate result - decreased amount of amniotic fluid. Abnormalities leading to oligohydramnios may include severe hypoplasia, dysplasia, polycystic, obstructive uropathy or renal agenesis. In most cases, the disease occurs sporadically, but there are also forms with transmission of the disorder through successive generations: autosomal dominant or recessive inheritance of polycystic disease, hereditary renal dysplasia caused by mutations in RET, UPK3A genes and other chromosomal abnormalities.Conclusion. Potter syndrome is a set of severe syndromes manifested by abnormalities in the development of kidneys, oligohydramnios, leading to lung hypoplasia, skeletal disorders and other congenital anomalies. The severity of congenital defects included in the set depends on the time periods when oligohydramnios occurred. Despite the availability of experimental therapies, the disease is now considered to be fatal.

Mermaid syndrome associated with VACTERL-H syndrome

Mermaid syndrome or sirenomelia is an extremely rare congenital malformation with an incidence between 1.5 and 4.2 per 1,000,000 pregnancies. Association of mermaid syndrome with VACTERL-H syndrome is extremely rare, with only two cases reported so far in the literature. We present a new case of type I sirenomelia associated with VACTERL-H syndrome and review the relevant literature.  A 15-year-old female patient was admitted to the Department of Pathological Pregnancy at St George University Hospital, Plovdiv with progredient abortion during her first pregnancy. She had low socioeconomic status, negative history of concomitant diseases and addictions. The patient avoided prophylactic intake of folic acid during her pregnancy. Prenatal ultrasound found a malformative fetus. Consequently, magnetic resonance imaging was performed which established the presence of hydrocephalus and defects in the lower part of the spine. These pathological findings indicated interruption of pregnancy at 20 weeks of gestation. The fetopathological examination found sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal and ureteric agenesis, bladder agenesis, tracheo-esophageal fistula, agenesis of external genitals, monkey fold of the left palm of the hand, also known as VACTERL-H syndrome. Our case demonstrates that mermaid syndrome and VACTERL-H syndrome represent different manifestations of a single pathological process that results in disorders of the blastogenesis at different stages during embryonic development. 

Congenital Bladder and Urethral Agenesis: Two Case Reports and Management

Background. Agenesis of the bladder and urethra is a rare congenital anomaly, with a very few living cases reported in the literature so far. Case Presentation. We are reporting two female patients (3 and 6 years old) with bladder and urethral agenesis who presented with urinary incontinence. In both patients, magnetic resonant imaging (MRI) revealed a case of bladder and urethral agenesis with normal ureters draining into the vagina. Patients underwent a neobladder and conduit creation surgery. The neobladder was constructed from the whole cecum and a part of the ascending colon, followed by an anastomose of the ureters into the neobladder in a nonrefluxing fashion; the appendix was used simultaneously as a continent catheterizable conduit. The two patients attained urinary continence postoperatively. Conclusion. We reported two cases of bladder agenesis, and for the first time, we have performed neobladder creation surgery using the cecum and ascending colon. One-year follow-up did not reveal any complications.

Gall bladder agenesis: a surgeon’s dilemma

Congenital agenesis of gall bladder is a rare anomaly which poses a diagnostic dilemma to the surgical fraternity. Ultrasonography, which is the standard investigation of choice in gall bladder diseases often gives a mistaken diagnosis of cholelithiasis in the background of a shrunken gall bladder with hyperechoic shadows suggestive of gall stones. Intra-operatively this poses a surprise to the operating surgeon who fails to locate gall bladder in its normal anatomic position as well as any of the ectopic sites. The controversy in further course of management whether to abandon the procedure and follow-up with a post-operative imaging such as MRCP or to convert the laparoscopic procedure into an open surgery has been a debate for the surgeons. Most of the literature favours the first approach, thereby reducing the morbidity associated with the surgery. In this case report we present a 42-year-old male who presented with symptoms of gall bladder disease to a peripheral surgical centre and how we approached the intra-operative dilemma once gall bladder was not visualized.