A giant fetal urinoma in a neonate without detectable obstructive uropathy.

Fetal urinoma is an uncommon finding in prenatal investigations. Most previous reports have, almost in every case, referred to the presence of an obstructive uropathy and thus to very high pressure in the upper urinary tract during fetal life. In this paper we present a prenatally detected fetal giant urinoma occurring in the absence of an apparent obstructive uropathy but associated with an ipsilateral vesico-ureteral reflux. CASE REPORT: A 5-day-old boy, born after a caesarean section in the 37th week of gestation, but without any perinatal distress, came under our observation because of the evidence of a right upper quadrant abdominal mass. This mass had already been detected prenatally, when during the 30th week of gestation ultrasound investigation showed a right anechogenic mass occupying more than half of the abdominal fetal profile. At postnatal US scan this liquid mass did not seem to have its own wall and moved the nearest organs laterally and upward. The right kidney was not visualised and no ascites was present. We decided to insert a percutaneous drainage tube to decompress the renal parenchyma; normal urine leaked out from it. Radionuclide 99 mTc-DTPA scan excluded an obstructive uropathy, while voiding cystourethrogram excluded posterior urethral valves but showed a vesico-ureteral reflux. We diagnosed a right-sided giant urinoma correlated with a vesico-ureteral reflux but without any urinary obstruction. DISCUSSION: It is very difficult to find a reasonable explanation for the occurrence of a urinary extravasation as a consequence of a vesico-ureteral reflux as seen in this neonate. We know that an intra-renal reflux can be the final result of high-grade vesico-ureteral reflux, but we find it very strange that this could induce a parenchymal rupture in the absence of a rapid increase of pressure and thus without a urinary stricture or stenosis. We can only assume that a prenatal transient urethral outflow obstruction was the cause of this renal rupture. A syringocoele might be the most probable transitory cause of prenatal obstruction.     

Chronic constipation causing obstructive uropathy in an adolescent male

Chronic constipation causing obstructive uropathy is very rare in children and young adults. Nevertheless, it is one of the possible complications of ongoing constipation and can cause severe renal function impairment with the need for emergent disimpaction. We review the case of a young adult who presented to our emergency department with acute renal failure due to fecal impaction.     

A thyroglossal duct cyst causing apnea and cyanosis in a neonate

This is a case of a 3-week-old male who presented to the emergency department with intermittent apnea and cyanosis. While in the emergency department, he had respiratory compromise with stress and required intubation. Further evaluation confirmed the diagnosis of a thyroglossal duct cyst. Congenital lesions causing extrinsic airway compression should be considered in all neonates with apnea, cyanosis, and respiratory compromise. Knowledge of pediatric airway anatomy and physiology is important in all cases where obstructive apnea is suspected.     

Fetal urinary ascites in a neonate without detectable obstructive uropathy or neurogenic bladder etiology

Fetal urinary ascites is usually secondary to an obstructive uropathy or neurogenic bladder. We present such a case in the absence of these conditions, but the presence of ipsilateral vesicoureteral reflux with Hutch diverticula. The patient was a 5-day-old boy presenting with distension of the abdomen and impairment of renal function. Tests revealed urinary ascites and renal insufficiency which spontaneously resolved after transurethral urinary drainage was established. This rare complication should be considered in neonates with high intrapelviureteric and intrarenal pressure as a result of high-grade vesicoureteral reflux with paraureteral diverticula.     

Double urethral obstruction in a neonate - a case report.

Posterior urethral valves are the most common cause of lower urinary tract obstruction in a male child, generally occurring as an isolated anomaly. Congenital anterior urethral diverticulum, although less common, can also cause urethral obstruction. We report a rare combination of the two anomalies in which the proximal, more severe anomaly prevented the initial expression of the other.     

Transient pseudohypoaldosteronism secondary to posterior urethral valves--a case report and review of the literature.

In transient pseudohypoaldosteronism (TPHA), renal tubular resistance to aldosterone is thought to be secondary to renal disease. We report a case of TPHA caused by posterior urethral valves associated with urinary tract infection and review 62 cases previously reported. The infant presented with unspecific signs of vomiting and dehydration, so that pyloric stenosis was first suspected. Laboratory data and retroperitoneal sonography led to the diagnosis TPHA. This case illustrates that urine culture and renal ultrasonography should be performed in any infant with electrolyte disturbances to exclude infection or obstructive uropathy.     

Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy

Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance presenting in infancy with renal salt wasting and failure to thrive. Here, we present the case of a 6-week-old baby girl who presented with mild hyponatraemia and dehydration with a background of severe failure to thrive. At presentation, urinary sodium was not measurably increased, but plasma aldosterone and renin were increased, and continued to rise during the subsequent week. Despite high calorie feeds the infant weight gain and hyponatraemia did not improve until salt supplements were commenced. Subsequently, the karyotype was reported as 46,XX,inv (4)(q31.2q35). A search of the OMIM database for related genes at or near the inversion breakpoints, showed that the mineralocorticoid receptor gene (NR3C2) at 4q31.23 was a likely candidate. Further FISH analysis showed findings consistent with disruption of the NR3C2 gene by the proximal breakpoint (4q31.23) of the inversion. There was no evidence of deletion or duplication at or near the breakpoint. This is the first report of a structural chromosome disruption of the NR3C2 gene giving rise to the classical clinical manifestations of pseudohypoaldosteronism type 1 in an infant.     

Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis

Cystic fibrosis (CF) is an inherited disorder with a devastating prognosis. Determination of chloride concentration in sweat has been the gold standard test for diagnosing CF for over 50?years and still remains the primary screening test. However, now that the genetic cause is known and can be studied, genetic confirmation is mandatory in every suspected patient. We present a patient who had been clinically diagnosed and whose genetic testing could not confirm CF, leading us to search for other options that may also give a positive sweat test. The patient turned out to suffer type 1 pseudohypoaldosteronism, a condition that may cause severe dehydration, hyponatremia and hyperkalemia episodes if not diagnosed and treated early with sodium supplementation. We found a genetic variation in the epithelial sodium channel gene which has not been reported previously, and we discuss the possibility of it being the cause of our patient's phenotype. Conclusion: this patient clearly illustrates the usefulness of genetic confirmation for CF for the diagnosis and genetic counselling, even when it is clinically oriented, and describes a novel mutation of the amiloride-sensitive epithelial sodium channel possibly causing type 1 pseudohypoaldosteronism.     

Enterobacter cloacae causing pneumatocele in a neonate

Pneumatocele formation, a cyst-like rarefaction that develops within the lung parenchyma, is an unusual complication of pneumonia in the neonate. It has been reported to occur with Staphlococcus aureus, Escherichia coli, Klebsiella pneumoniae, Streptococcus pneumoniae , and Pseudomonas aeruginosa infections. We describe a case of a premature neonate with pneumonia and subsequent pneumatocele formation caused by Enterobacter cloacae     

Non-Rotavirus infection causing apnea in a neonate

Apnea in a premature infant is not always due to immaturity and caffeine is not always the answer. We report a case of apnea in a preterm infant who presented at two weeks of life with increase in frequency of apnea that did not respond to caffeine. Family history was significant for diarrhea in a sibling. Stool PCR was positive for Norovirus Genogroup II. Enteric isolation was instituted and the apnea resolved spontaneously with conservative management. Re-emergence of apnea or persistent apnea necessitates further investigation to elucidate the etiology.     

Retropharyngeal neuroblastoma in a neonate: case report and literature review

Primary cervical neuroblastoma (NB) in neonates is extremely rare. We treated a 1-day-old male neonate who presented with stridor and feeding difficulty and was subsequently diagnosed with NB of the retropharynx. The tumor was excised in toto transorally, and no metastatic lesions were confirmed. Histopathology and molecular genetic analysis showed poorly differentiated NB with no N-myc amplification, stage I NB. He has had no signs of recurrence or adverse sequelae during 18 months of follow-up. We report our experience and review the literature.