Diphallus: Report on Six Cases and Review of the Literature

Background

Diphallus is an extremely rare anomaly. Numerous associated genitourinary, gastrointestinal and other anomalies have been described with diphallus. These patients need several investigations, and finally surgical intervention.

Cases Presentation

In this report we discuss six patients with diphallus which evaluated retrospectively. Five patients had complete diphallia, and one had bifid diphallus. Meatus was normal in 3, hypospadiac in 2, and epispadiac in one patient. The most common associated anomaly was bifid scrotum (5 cases), and other common anomalies consisted of bladder duplication (3 cases), imperforate anus (2 cases), and hypospadias (2 cases). Phalloplasty was performed for all but one.

Conclusion

All the patients with urethral duplication have to be evaluated carefully because of the high incidence of other systemic anomalies.     

Penile Duplication and Two Anal Openings; Report of a Very Rare Case

Background

Penile duplication (diphallus) is an extremely rare disorder. It is almost always associated with other malformations like double bladder, exstrophy of the cloacae, imperforate anus, duplication of the rectosigmoid and vertebral deformities. Meanwhile anal canal duplication, the most distal and least common duplication of the digestive tube and is a very rare congenital malformation.

Case Presentation

A 21 days old Egyptian neonate is reported with complete penile duplication and two scrotums with each one carrying two palpable testes. Both penises have normal shaft with normally located meatus. Clear urine voids from both meati spontaneously. The child had also a fold of redundant skin about 4×5 cm at the anal region in which two separate anal openings are present. In rectal examination we found two normal anuses passing stool spontaneously. Ascending (voiding) cystourethrography revealed two penises with two separate meatuses and one bladder from which the two urethras go out separately. Intravenous pyelogram (IVP) revealed two normal kidneys and ureters. Barium study revealed duplication of rectum and colon, otherwise normal GIT.

Conclusion

In our review of the literature, we did not come across any other case of this variety of the penile duplication and congenital presence of two anuses. Unfortunately the patient expired before any surgical correction.     

Diphallus with ectopic bowel segment: a case report

A 1-year-old boy presented with complete duplication of the penis, with an ectopic bowel segment as an associated anomaly. The boy had duplicated epispadiac urethras. The right one ended blindly whereas the left one was patent, leading into the bladder. There was separation of the symphysis pubis and bifid scrotum. Investigations revealed no other anomalies. A review of the literature concerning diphallus showed a preponderance of associated anomalies such as exstrophy, bladder duplication, ureteral or renal defects, and imperforate anus, but no cases with an ectopic bowel segment. We report this case because of its extreme rarity.     

Laparoscopic excision of complete bladder duplication in a 1-year-old male

Objective

Complete bladder duplication is a male predominant rare congenital malformation usually diagnosed at birth. Owing to the rarity of this anomaly, only few reports have discussed the surgical approach for this condition, with the open approach for excision being the most common. We hereby present a video of a laparoscopic resection of complete bladder and urethral duplication in a 1-year-old male.

Complete duplication of the hindgut,penis, and lower urinary tract

A 1-day-old male with complete duplication of the caudal gut from the terminal ileum to the anus with a normal, midline-localized anus and an imperforate right-sided anus with a rectourethral fistula and a skin dimple is presented. He also had complete duplication of the bladder urethra, and penis (true diphallus), an umbilical hernia, spina bifida occulta covered by skin containing a capillary hemangioma, and separation of the symphysis pubis. This case represents caudal twinning with duplication of the hindgut, genitalia, and lower urinary tract.     

Tailgut Cyst in an Infant with Imperforate Anus: a Case Report

Background

Tailgut cyst (TGC) is a rare congenital lesion that originates from remnants of the embryonic post-anal gut. It presents as a multilocular presacral mass mainly in young women. Microscopically, the cyst lining is composed of different types of epithelium such as stratified squamous, transitional, or glandular.

Case Presentation

We present a term female newborn referred to our hospital for evaluation and management of imperforate anus. During dissection of the presacral space to release the rectum, a multicystic mass adherent to the distal part of rectum was detected and completely excised. Histopathology confirmed the TGC diagnosis.

Conclusion

TGC is a very rare lesion, but it should be considered in differential diagnosis of any presacral mass, even in infancy. Complete excision is the preferred treatment and can be done more easily neonatally or in infancy.     

Goldenhar Syndrome in an Infant of Diabetic Mother

Background

Goldenhar syndrome (oculoauriculovertebral dysplasia) is a rare congenital anomaly with unknown etiology and consists of non accidental association of hemifacial microsomia, auricular anomalies, epibulbar dermoid and vertebral anomalies. Although some malformations are more frequent in infants of diabetic mothers, developmental defects of first and second branchial arch is not a common finding in these patients.

Case Presentation

We report a female case of Goldenhar syndrome in a newborn infant of a diabetic mother (IDM). Follow up of this patient after 6 months showed normal neurodevelopment and no evidence of hearing loss. She had developed epibulbar dermoid tumor in her right eye.

Conclusion

It is necessary to evaluate IDM for presence of anomalies implying oculoauriculo-vertebral dysplasia.     

Successful management of a completely duplicated lower urinary system

We present a young girl with an exceedingly rare case of a duplicated bladder, urethra, vulva, vagina, cervix, uterus, appendix, colon and anus, as well as a lipomyleomeningocele. This complex of anomalies has been referred to in the literature as caudal duplication syndrome. This particular case was complicated with urinary and fecal incontinence, vesicoureteral reflux, and recurrent rectovaginal fistulas. We report the successful surgical management of her condition with resulting urinary and fecal continence and resolution of reflux and fistulas.     

Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus

Background:

To open vaginal cavity to the pelvic floor is part of surgical treatment for urogenital sinus (UGS) in girls with congenital adrenal hyperplasia (CAH). For high UGS, this operative procedure can be challenging and may jeopardise urinary continence. Combined perineal and laparoscopic approaches could be useful to minimise perineal dissection and to facilitate the vaginal lowering.

Patients and Methods:

We report the procedure of a laparoscopic-assisted vaginal pull-through for supra-sphincteric UGS in a 5-year-old girl with CAH. Laparoscopic dissection of the vagina from the posterior wall of the bladder and urethra, division of the confluence and vaginal pull-through to the perineum are described.

Discussion:

The technique is derived from laparoscopic-assisted treatment for high ano-rectal malformations. Compared with current procedures for treatment for high UGS, laparoscopic-assisted approach allows mobilising vagina with minimal dissection of perineum and complete preservation of urethra. Another major advantage is to provide a direct vision for dissection of the space between rectum and urethra prior to vaginal pull-through.

Conclusion:

Laparoscopic-assisted vaginal pull-through appears to be an interesting approach for high UGS in CAH patients, reducing dissection and risk of urinary incontinence. This new approach needs to be strengthened by other cases.Key words: Congenital adrenal hyperplasia, laparoscopy, urogenital sinus, vaginal pull-through     

Congenital Pouch Colon with Unilateral Renal Agenesis and Monorchism

Background

Congenital pouch colon, also known as congenital short colon or “Pouch colon syndrome”, is a rare condition that occurs in association with anorectal malformations; colon is either partially or completely replaced by pouch-like dilatation and communicates with the urogenital tract by means of a fistula. This anomaly is exclusively seen in Northern parts of India with only a few cases reported from elsewhere.

Case Presentation

A 1-day old neonate was presented with abdominal distension due to lack of passage of meconium. Clinical and radiological investigations revealed ano-rectal malformation. Incidental findings were left sided renal agenesis and right sided anorchia. Laparotomy revealed congenital pouch colon which was dealt accordingly. The baby is now healthy and awaiting further reconstructive surgery.

Conclusion

Although urogenital anomalies are not uncommon with congenital pouch colon, the finding of renal agenesis with unilateral anorchia is quite rare.     

HDR Syndrome (Hypoparathyroidism,Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease

Background

HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are reported in combination with Hirschsprung disease like DiGeorge syndrome, mosaic trisomy 8, XXY chromosomal constitution, partial duplication of chromosome 2q, tetrasomy 9p, and 20p deletion.

Case Presentation

Here, we describe an 8 year-old girl with HDR syndrome accompanied by Hirschsprung disease. Although the association of Hirschsprung disease with chromosomal anomalies has been reported, according to our knowledge, this is the first report of associated HSCR with HDR syndrome.     

One-stage correction of intermediate imperforate anus in males

This prospective study was designed to assess the safety, cost-effectiveness, and advantages of performing posterior sagittal anorectoplasty (PSARP) without colostomy on males with intermediate imperforate anus in a developing country. Fifteen consecutive males with intermediate imperforate anus were entered into the study. Chest and abdominal x-rays, skeletal surveys, renal ultrasound scans, and invertograms were done. Patients were resuscitated and Peñas PSARP done in prone positions. A 2-ml syringe vent was inserted into the new anus for 10 days. Babies were nursed prone postoperatively. Cephalosporin and metronidazole were given as perioperative antibiotics. All patients had intermediate anomalies. There were no other major associated congenital anomalies. A urethral catheter could not be inserted in one patient, and one patient who presented with septicemia and jaundice was deemed too ill to withstand a major operation; these two patients therefore had diverting colostomies. There were no problems with PSARP in the other 13 patients. One patients father discharged him against medical advice on the 5th postoperative day; the mother had had postpartum hemorrhage, so they opted for traditional treatment because they could not provide blood donors. The skin wounds of 10 patients healed completely with removal of stitches; two boys had superficial wound infection. Parents who lived far from the hospital were taught how to dilate the anus. Follow-up has ranged between 3 months and 2 years. This prospective study shows that it is feasible for males with intermediate imperforate anus to have safe PSARP without colostomy. The advantages of one instead of three major operations are many, especially in developing countries. If this result can be reproduced in cases of high anomalies, colostomy may be unnecessary in many cases of anorectal malformations, with many benefits to these children and their families.     

Congenital Midline Cervical Cleft: Can It Be Treated in Newborn?

Background

Congenital midline cervical cleft (CMCC) is a rare developmental anomaly of the anterior neck, mostly found in Caucasian females. Most authors consider it within the spectrum of branchial arch developmental abnormalities. There have been about 100 reported cases in the literature. However, there is no agreement on the age of surgery in this anomaly.

Case Presentation

In this report we present our experience of managing this anomaly in the early neonatal period in two neonates. One of them had concomitantly congenital heart disease.

Conclusion

It is important to recognize this rare congenital anomaly in neonate. Although the exact time of surgery for CMCC is not mentioned, based on our results the earliest time of intervention is recommended since then the operating result will be excellent.     

Presentation,management, and outcome of posterior urethral valves in a Nigerian tertiary hospital

Background:

Posterior urethral valves (PUV) remain the most common cause of bladder outlet obstruction and renal insufficiency in male children. The aim of this study was to evaluate the presentation, management, challenges, and outcome of the disease in a Nigerian tertiary health institution.

Patients and Methods:

Retrospectively, medical records of male children with a diagnosis of PUVs over a 10 year period (2003-2012) were retrieved. All data in relation to the study objectives were recorded and analyzed.

Results:

A total of 44 patients was managed for PUV within the period. The mean age of presentation was 3.95 years with 56.8% of the patients presenting after the age of 1 year. Voiding dysfunction noted in 40 (91.0%) patients was the most common mode of presentation. The most common finding on physical examination was a palpable bladder while urinary tract infection noted in 23 (52.3%) patients was the most common complication noted. Abdominal ultrasonography revealed dilated posterior urethra in 16 (36.4%) cases, while micturating cystourethrogram revealed a dilated proximal urethra in all 35 cases in which it was done, diverticulum in 6 and vesicoureteric reflux in 9. The creatinine value at presentation ranged between 0.4 mg/dl and 4.0 mg/dl with a mean of 1.02 ± 0.93 mg/dl. Urethroscopy in 37 patients confirmed type I and type III PUV in 35 and 2 patients, respectively. Valve ablation with a diathermy bugbee electrode provided relief of obstructions in the 37 patients who underwent the procedure without any significant immediate complication. The period of follow-up ranged between 2 weeks and 3 years with a mean of 10.2 months. There was sustained improvement in urine stream, reduction in the mean creatinine concentration and incidence of UTI during follow-up. However, patients with significantly impaired renal function had a poorer outcome.

Conclusion:

Many patients with PUV presented late within the reviewed period. Valve ablation provided relief of obstruction in most of the cases. There is a need to counsel parents/guardians on the need for long-term follow-up.     

Imperforate anus associated with atresia of the transverse colon: a case report.

We describe here a rare case of association of imperforate anus with transverse colon atresia in a male neonate. Preoperative X-ray studies demonstrated: a) a distended loop in the epigastrium with fluid levels on plain A/P upright radiography, b) absence of pelvic intestinal gas on the invertogram 16 hours later. A three-stage operative approach was undertaken comprising resection of the atretic loop and colostomy, posterior sagittal anorectoplasty a few months later, and finally closure of the colostomy. The postoperative outcome was good. The association of these anomalies should be kept in mind in neonates with anal atresia and abdominal distention.     

Abdominal Inflammatory Myofibroblastic Tumor: Report on Four Cases and Review of Literature

Background

The Abdominal Inflammatory Myofibroblastic Tumor (AIMT) is a rare tumor with unknown etiology which usually occurs in children and adolescents. It is composed of myofibroblastic spindle cells intermixed with inflammatory cells. We present four cases of AIMT.

Cases Presentation

We herein present four cases of AIMT in different ages (range: 3.5 to 13 years) and in different organs (stomach, periduodenal, mesenteric, and colon). There were two females and two males. The main symptoms were abdominal pain/mass/obstruction, vomiting, and weight loss. In all four patients, diagnosis was made by laparatomy and pathologic examination of excised mass lesion. Three patients underwent complete excision and no residual disease was present, one patient received chemotherapy due to tumor recurrences. The patients were followed up in average for four years.

Conclusion

As the imaging and laboratory tests are non-specific, the diagnosis of AIMT is rarely made before surgery. AIMT should, therefore, be considered when a mass arises in an unusual location in the pediatric age group. Complete surgical resection should be performed whenever possible and the child should be kept on long-term follow-up.     

Unusual case of coronal complete bladder duplication associated with rectoprostatic fistula to duplicated prostatic urethra

Anorectal malformations are a common congenital anomaly, while bladder duplication is rare. Bladder duplications are classified as complete or incomplete and sagittal or coronal. We present a rare case of coronal complete bladder duplication with rectoprostatic fistula to the blind ending prostatic urethra of the duplicated bladder.     

Aesthetic,urological, orthopaedic and functional outcomes in complex bladder exstrophy-epispadias's management

Background:

Postoperative complications are related to the surgical procedures, of failures of initial bladder closure and influence the urological, aesthetical and orthopaedic outcomes.

Materials and Methods:

We reviewed four patients who underwent complex bladder exstrophy-epispadias repair over a period of 14 years. The outcomes of treatment were assessed using, aesthetic, urological and orthopaedic examination data. Orthopaedic complications were explored by a radiography of the pelvis.

Results:

Out of four patients who underwent bladder exstrophy surgical management, aesthetic, functional outcomes and complications in the short and long follow-up were achieved in three patients. The first patient is a male and had a good penis aspect. He has a normal erection during micturition with a good jet miction. He has a moderate urinary incontinence, which requires diaper. In the erection, his penis-measures 4 cm long and 3 cm as circumference. The second patient was a female. She had an unsightly appearance of the female external genitalia with bipartite clitoris. Urinary continence could not be assessed; she did not have the age of cleanness yet. The third patient had a significant urinary leakage due to the failure of the epispadias repair. He has a limp, a pelvic obliquity, varus and internal rotation of the femoral head. He has an inequality of limbs length. Pelvis radiograph shows the right osteotomy through the ilium bone, the left osteotomy through the hip joint at the acetabular roof.

Conclusion:

When, the epispadias repair is performed contemporary to initial bladder closure, its success is decisive for urinary continence. In the female, surgical revision is required after the initial bladder closure for an aesthetic appearance to the external genitalia. Innominate osteotomy must be performed with brilliancy amplifier to avoid osteotomy through to the hip joint to prevent inequality in leg length.     

Persistent Truncus Arteriosus With Intact Ventricular Septum: Clinical,Hemodynamic and Short-term Surgical Outcome

Introduction:

Truncus arteriosus with intact ventricular septum is a rare and unique variant of persistent truncus arteriosus (PTA) which usually presents with central cyanosis and congestive heart failure in neonate and early infancy. Associated cardiac and non-cardiac anomalies may affect morbidity and mortality of these patients.

Case Presentation:

We describe clinical presentation, echocardiography and angiographic features of a 7-month old boy with PTA and intact ventricular septum who underwent surgical repair of the anomaly at our institution. Operative findings, surgical procedure and short-term outcome are reported.

Conclusions:

While our patient had systemic pulmonary arterial pressure at the time of complete surgical repair, it was improved after surgery.