Urethral Atresia Research Articles

Aphallia: Its Classification and Management

Aphallia is an extremely rare disorder with profound urological and psychological consequences. Approximately 60 patients have been reported on in the literature; we report our experience with 3 additional patients. Fifty patients had sufficient information to classify the condition according to the site of the urethral meatus. With the relative relationship of the urethral meatus to the anal sphincter several observations were noted. The more proximal the meatus the higher the incidence of other anomalies and the greater the number of neonatal deaths. Of the patients 30 (60 per cent) had a post-sphincteric meatus located on a peculiar appendage at the anal verge. These patients had the lowest incidence of other anomalies (1.2 per patient) and the highest survival rate (87 per cent). A total of 14 patients (28 per cent) had pre-sphincteric urethral communications (prostatorectal fistula), of whom 36 per cent died in the neonatal period. Six patients (12 per cent) had urethral atresia. This group had no survivors and the highest incidence of other anomalies (4 per patient). Of our patients 2 had a post-sphincteric meatus and 1 had a pre-sphincteric meatus. In addition to correction of life-threatening anomalies the management of aphallia centers on establishing gender assignment. Bilateral orchiectomy, labial construction and urethral transposition should be done in the newborn period, if possible.

NON-INVASIVE MANAGEMENT OF FETAL OBSTRUCTIVE UROPATHY

Fetal outcome was studied in 43 consecutive cases of fetal obstructive uropathy in which no prenatal treatment was undertaken: 12 babies survived. In the 31 who did not survive, oligohydramnios was present in 24 and urethral atresia was the most common cause of obstruction (in 27). At necropsy, bilateral renal dysplasia was found in 23 and pulmonary hypoplasia in 13; 16 had structural or chromosomal anomalies, less than half of which were detected by prenatal ultrasound. In the survivors, 8 had posterior urethral valves, 1 had oligohydramnios, and 2 had associated anomalies. Obstructive uropathy is often associated with other anomalies which may escape prenatal ultrasound detection, and studies to determine the efficacy of intrauterine decompression techniques must allow for this observation.

Prune Belly Syndrome: Report of Twelve Autopsy Cases and Possible Pathogenesis

Abstract Twelve autopsy cases (9 males, 3 females) of the prune belly syndrome are presented. Principal anomalies of this syndrome are a prune‐like abdominal feature and a giant bladder. Urethral atresia was observed in most but two cases. Imperforate anus and rectovesical fistula were observed in 8 and 7 cases respectively. Associated anomalies were those which may or may not be embryologically related to the principal anomalies.As regards the pathogenesis, the authors propose that a primary defect may occur during any developmental stage of the somitic mesoderm, genital tubercle and urethra. In conclusion, the prune belly syndrome may be of spectrum anomalies depending on the stage specificity mainly in the abdominal wall and genito‐urinary organs.

Prune Belly Syndrome and Female Pseudohermaphroditism

The "prune belly" syndrome (PBS) combines malformation of the deferent urinary tract with cryptorchism and hypoplasia or aplasia of the abdominal musculature. Recent investigations have ascertained the role of urethral atresia or temporary urethral stenosis in the pathogenesis of PBS. The present case is classified as PBS combined with female pseudohermaphroditism and urethral atresia in a Potter syndrome. Of paradigmatic significance for the understanding of PBS pathogenesis, the case illustrates the almost exclusive occurrence of the syndrome in males, explained by the complex evolution of the phallic urethra. Hypoplasia of abdominal muscles is seen as a sequel to the extreme occupation of intraabdominal space. An alternative concept, assuming general defects in mesenchymal development that provoke independent, isolated malformations eventually subsumed under the term prune belly syndrome, is discussed in this context.

Superior Vesical Fistula: A Rare Exstrophic Variant

AbstractClassical exstrophy of the bladder is not a rare disease but a combination of well recognized exstrophic variants is extremely rare. We report a case of a superior vesical fistula associated with an imperforate anus and anterior urethral atresia.

Splenic torsion with prune belly syndrome

SPLENIC TORSION is a rare cause of abdominal mass in childhood. Its occurrence is sporadic and associated anomalies are infrequent. One previously reported infant had the prune belly syndrome.' We present a second case of splenic torsion in a patient with prune belly syndrome, which suggests that this association is not merely fortuitous. CASE REPORT A 15-month-old male infant with prune belly syndrome associated with urethral atresia and a patent urachus had required a cutaneous vesicostomy at birth because of urinary obstruction. He presented with a three-day history of fever, anorexia, constipation, irritability, and progressive mucosal evagination of the vesicostomy. Physical examination revealed a temperature of 38.5 ~ C, blood pressure 94/62 mm Hg, and heart rate 140/minute. He was markedly irritable and had a distended abdomen. The left posterolateral mucosal surface of the bladder evaginated through the vesicostomy. A smooth, firm, sharply demarcated, tender mass was palpated in the left lower quadrant distinct from the left kidney. There was no hepatomegaly and the spleen was not felt in its normal position. A digital examination of the rectum showed impacted stool but no distinct mass. The hematocrit was 37%, the WBC 13,900/mm', and there were increased platelets. No burr cells, Heinz bodies, or Howell-Jolly bodies were present. An intravenous pyelogram showed hydronephrosis and megaureters unchanged from previous studies. Barium enema showed impacted feces and medial displacement of the left colon. Ultrasonography of the abdomen demonstrated a 9 x 4 cm mixed solid and fluid mass. An exploratory celiotomy was performed. The spleen was located in the left lower quadrant. The normal supporting ligaments were absent and there was torsion of the spleen upon its vascular pedicle with evidence of infarction of the parenchyma. The pancreas was not involved and the distal pancreas was mobile rather than fixed to the retroperitoneum. Splenectomy was performed without difficulty and the patient had an uneventful postoperative course.

Massive fetal ascites, urethral atresia, and cytomegalic inclusion disease.

Massive fetal ascites is unusual and, while having diverse mechanisms, is most frequently due to obstructive uropathy. A rare form of urinary tract obstruction, complete urethral atresia with complex urogenital tract anomalies, is anatomically documented in the following case report. In addition, concurrent cytomegalic inclusion disease, also rarely associated with fetal ascites, was present. Unlike the present case, some more common forms of neonatal urinary tract obstruction are amenable to surgical relief. For this reason, the level of obstruction is clinically important.

Intra-uterine atrophy and gangrene of the lower extremity of the foetus caused by megacystis due to urethral atresia.

Intra-uterine atrophy and gangrene of the lower extremity of the foetus caused by megacystis due to urethral atresia.

Prenatal ultrasonographic diagnosis of urethral atresia

Urethral atresia is one of the rare congenital anomaly of urogenital tract. In this case report, uretheral atresia diagnosed antenatally by ultrasonography (USG) at 24-25 weeks of gestation is presented. USG findings were confirmed by postmortem examination of the fetus. Key words: Lower urinary tract obstruction, posterior urethral valves, ultrasonography, urethral atresia, DOI: 10.3126/joim.v31i3.3001 Journal of Institute of Medicine, December, 2009; 31(3) 61-62