ESPU Meeting on Wednesday 8, June 2022, 14:10 - 15:00
14:10 - 14:12
Marcello CARLUCCI 1, Venusia FIORENZA 2 and Girolamo MATTIOLI 2
1) IRCCS G Gaslini Children Hospital, Pediatric Surgery Unit, Genova, ITALY - 2) IRCCS Gaslini Children's Hospital, Pediatric Surgery, Genova, ITALY
Epidermolysis bullosa(EB) is a rare inherited muco-cutaneous disorder in which skin typical blistering could presents together with genitourinary mucosal involvement. We report a child carrying previously undescribed compound heterozygous missense ITGB4 mutations who presented severe obstructive uropathy and minimal late-onset skin fragility.
MATERIAL AND METHODS
A 5 years boy suffering for recurrent UTI and dysuria since first years of life, not accompanied by skin manifestations, came to our attention. Ultrasounds showed thickened bladder and dilated ureters. Urodynamics showed a low-compliance and low-volume overactive bladder. Functional studies showed normal functioning kidneys. Cystoscopy showed exuberant and deepithelialized bladder mucosa with severe urethral inflammation, involving both intravesical ureteral tract; biopsies showed a nephrogenic metaplasia. Because of severe urethral obstruction cystostomy and ureteral stenting were performed. During hospitalization, trauma-induced blister was noted and EB suspected. Despite cystostomy, after stent removal, hydronephrosis worsened with loss of kidney function.Laparoscopic ileal neo-bladder with ureters reimplantation and Mitrofanoff appendicovesicostomy was prefered to bladder augmentation and performed at age 9. Cystectomy wasn't done to avoid injuries on prostate and seminal vesicles.
After 3 years follow-up patient is symptoms-free, totally continent, with normal renal function. Endoscopies showed normal neo-bladder, but persistent urethral inflammation with normal native bladder. Histology confirmed junctional EB, and the reduced expression of α6β4 integrin both in ureter and skin indicated this integrin as the affected protein. Genetic established the diagnosis of Junctional EB Pyloric Atresia(JEB-PA), due to compound heterozygous ITGB4 missense mutations.
This case highlights the clinical variability of JEB-PA: severe urinary tract involvement can represent the only disease manifestation for years, mimicking functional bladder disorders. JEB-PA should be considered in children with unexplained UTI, voiding disfunction and obstructive uropathy. Surgical treatment varies from endoscopic procedures to the point of bladder replacement.
14:12 - 14:14
Gökhan DEMIRTAŞ, Derya YAYLA, Süleyman TAĞCI, Bilge KARABULUT and Hüseyin Tuğrul TIRYAKI
Ankara Bilkent City Hospital, Pediatric Urology, Ankara, TURKEY
Extensive defects to penile shaft skin can result as a consequence of fournier gangrene, trauma, oncologic surgery, criple hypospadias or ekstrophy vesica. Local flaps can often use for reconstruction. But some cases because of deficiency local flaps are not suitable for reconstruction. We aimed to evaluate our experience with full thickness skin grafts (FTSGs) and split thickness skin grafts (STSGs) of penis in the pediatric population.
MATERIAL AND METHODS
We retrospectively studied 4 children (3-17 years old) who underwent skin grafting owing to circumcision injury, patient with penil skin necrosis, patient with multiple extrophy vesica surgery and patients after previous multiple hypospadias surgery.
STSGs from inner side of arm (two patients) and FTSGs inguinal area (two patients)
were fashioned the denuded penis following reconstruction. The median follow up was 16 months (range 4years-three months).
There was 100% take of the grafts. No patient required additional grafting. All patients reported normal sensation following grafting. None of the patients demonstrated shrinkage of the grafts over the follow up period.
Our experience demonstrated that the use of both full thickness skin grafts (FTSGs) and split thickness skin grafts (STSGs) in patients with penile skin loss yields
satisfactory functional and cosmetic outcomes.
14:14 - 14:16
Massimo CATTI 1, Elisa CERCHIA 2, Barbara TADINI 2, Elisabetta TERUZZI 2, Marco FALCONE 3, Omidreza SEDIGH 3, Paolo GONTERO 3 and Simona GEROCARNI NAPPO 2
1) OIRM Torino, Paediatric Urology, Torino, ITALY - 2) Città della Scienza e della Salute, OIRM Torino, Paediatric Urology, Turin, ITALY - 3) Città della Scienza e della Salute, OIRM Torino, Urology U, Turin, ITALY
Buccal mucosa graft (BMG) is widely used in children and adults when complex urethral reconstruction is needed. So far a single case of malignancy developing in BMG was described. We report 2 more cases.
MATERIAL AND METHODS
Patient 1: A 46 years smoker with HPV-related bulbar urethral stricture underwent urethroplasty with BMG. After 3 years he developed an HPV+ papilloma of the tongue and genital condiloma. Two years later he developed a squamous cells carcinoma (SCC) in the bulbar urethra, with no buccal localization. Despite all treatments, metastatic diffusion occurred and the patient died.
Patient 2: A 45 years smoker with post-traumatic stenosis of the bulbar urethra underwent BMG urethroplasty. After 6 months he developed a SCC in the bulbar urethra with no oral malignancy. The patient refused all treatments for major psychiatric disorders and eventually died.
SCC is the most frequent oral malignancy while it is very rare in the urethra. In both our cases hystology confirmed that SCC developed at the implanted BMG. We hypothesize that urethral SCC developed as a result of well known oncological predisposing factors for oral SCC such as smoking and HPV infection (in case 1) and from chronic inflammation after urethroplasty.
neoplastic degeneration of BMG may occur and should be mentioned when obtaining informed consent. Long term follow-up is mandatory in children operated with BMG and prevention of risk factors such as smoking and sexually transmitted diseases should be recommended.
14:16 - 14:18
Nikica LESJAK 1, Zoran BAHTIJAREVIC 2, Fran STAMPALIJA 1 and Diana STIPIC 1
1) Children's Hospital Zagreb, Department of pediatric surgery, Division of pediatric urology, Zagreb, CROATIA - 2) Klaiceva 16, Department of pediatric surgery, Division of pediatric urology, Zagreb, CROATIA
Medical professionals around the globe are dealing with the various manifestations of COVID-19. Vasculitis is among the rarest clinical presentations in the pediatric population. In combination with priapism being an extremely rare presentation in pediatric urology by itself, this combination makes up for a truly peculiar case.
MATERIAL AND METHODS
In this study we report the case of a 10-year old boy presenting with ischemic priapism who tested positive for an asymptomatic COVID-19 infection the day before.
Priapism is defined as a prolonged complete or partial erection of the penis lasting more than 4 hours without sexual stimulus. It is an emergent condition in pediatric urology, but no widely accepted guidelines on the management of pediatric priapism exist. In this case the priapism was eventually successfully treated with a T-shunt after failed attempts at detumescence with venopuncture and epinephrine instillation. Pathohistological analysis revealed small-vessel vasculitis around the penile circulation. After other possible etiologies of small-vessel vasculitis were excluded, the diagnosis of leukocytoclastic vasculitis with COVID-19 infection was confirmed. This is the 2nd case of leukocytoclastic vasculitis with COVID-19 infection in the pediatric population, but the first to describe ischemic priapism due to leukocytoclastic vasculitis in literature, in the pediatric and adult population.
Since ischemic priapism is a serious and urgent medical condition, medical professionals should be acquainted with the treatment options for this condition in today’s world of the COVID-19 pandemics.
14:24 - 14:26
Tamir SHOLKLAPPER 1, Hannah GUAN 2, Chad CRIGGER 2, Nora HANEY 2, Thomas HARRIS 2 and John GEARHART 2
1) Johns Hopkins University, Robert D. Jeffs Division of Pediatric Urology, Brady Urological Institute, Baltimore, USA - 2) Johns Hopkins Hospital, Robert D. Jeffs Division of Pediatric Urology, Brady Urological Institute, Baltimore, USA
In patients with complete bladder exstrophy (CBE) posterior urethral strictures after primary bladder closure can be difficult to manage and therefore necessitate alternative techniques in reconstruction of the proximal urethra. Historically, Tanagho bladder neck reconstruction has been described as a potential intervention for adult urinary incontinence in patients who are poor candidates for an artificial urethral sphincter or whose bladder cannot tolerate posterior detrusor flap advancement (Young-Dees-Leadbetter technique). The authors would like to report their use of a bladder neck reconstruction (BNR) with a modified Tanagho flap in the treatment of urethral strictures.
MATERIAL AND METHODS
A prospectively maintained, IRB-approved database of 1,401 exstrophy-epispadias patients was reviewed for patients who underwent bladder neck or proximal urethral reconstruction with modified Tanagho flap with anterolateral detrusor flap for urethral reconstruction for proximal urethral stricture disease.
Of the 5 patients with CBE who underwent proximal urethral repair with Tanagho flap, 1 female patient was treated for incontinence and was excluded, 4 male patients were treated for urethral strictures and are reviewed here. One patients underwent successful primary closure (1 via modern staged repair of exstrophy (MSRE) and 1 via complete primary repair of exstrophy (CPRE), and 2 patients (1 MSRE and 1 CPRE) required repeat closure prior to urethral stricture development. Mean age at BNR Tanagho flap was 3.8 years (Range 2.3- 5.0). All patients remained stricture free with post-operative urinary incontinence; 2 patients underwent subsequent elective bladder neck transection in order to achieve continence. Mean follow up 9.9 years (range 2.1-15.6).
In this limited series, the modified Tanagho flap reconstruction is effective in treating posterior urethral stricture disease in CBE. This technique adds a valuable adjunct to the armamentarium of surgical options for this difficult to manage condition.
14:26 - 14:28
Ismail SELVI, M. Irfan DÖNMEZ, Orhan ZİYLAN and Tayfun OKTAR
İstanbul University, İstanbul Faculty of Medicine, Department of Urology, Division of Pediatric Urology, İstanbul, TURKEY
Although the exact pathophysiology is unclear, there have been reports of adult patients presenting with Lower Urinary Tract Dysfunction (LUTD) after COVID-19. Herein, we present three children with urodynamically proven lower urinary tract dysfunction (LUTD) following COVID-19 diagnosis.
MATERIAL AND METHODS
Retrospective chart review of toilet trained children
None of the patients had constipation or bowel disorder before the diagnosis of COVID-19. In addition, neurological examination and related imaging revealed no signs of etiological factors. The median time from diagnosis of COVID-19 infection to the onset of LUTS was 3 months. Incomplete bladder emptying/urinary retention supported by increased bladder compliance, high PMR volumes and absence of detrusor pressure increase during the voiding phase in the pressure flow study (acontractile detrusor in two patients and hypocontractile detrusor in one patient) were observed.
Based on our findings, clinicians should be aware of a recent COVID-19 infection in children with a sudden onset LUTS.
14:28 - 14:30
Sadaf ABA UMER KODWAVWALA 1, Sajid SULTAN 2, Bashir AHMED 2, Philip G. RANSLEY 2 and Adeeb Ul Hassan RIZVI 2
1) Sindh Institute of Urology & Transplantation, Philip G. Ransley Department of Paediatric Urology, Karachi, PAKISTAN - 2) SINDH INSTITUTE OF UROLOGY AND TRANSPLANTATION, PHLIP G.RANSLEY DEPARTMENT OF PAEDIATRIC UROLOGY, Karachi, PAKISTAN
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder. LUTs due to variety of Paediatric urological problems are very common however NF1 as a cause of LUTs in children is very rare and few cases have been reported in the literature so far. Here we present two cases of NF1 presented with LUTs.
MATERIAL AND METHODS
Two boys presented with dysuria, one of them had associated hematuria and other had renal stones.
Case 1: 10 year boy, had dysuria and flank pain. Ultrasound revealed bilateral renal stones with hydronephrosis and thick wall urinary bladder. Cystoscopy and initial cup biopsy of thickened area was inconclusive, later biopsy with resectoscope showed ganglioneuroma of the urinary bladder. On physical examination scattered café au lait spots & inguinal freckling seen. Family history of cutaneous nodule was positive. Criteria for the diagnosis of NF1 met including iris nodule on eye examination. MRI Pelvis showed growth involving bladder and perivesical area. Bilateral renal stones were removed with PCNL. Antegrade pyelography showed significant stasis at VUJ. Bilateral ureteric reimplantation done and biopsy of the ureteric wall showed plexiform neurofibromatosis.
Case 2: 10 years boy presented with short history of dysuria and hematuria. Other voiding and bowel history was unremarkable Ultrasound showed slight thickening of the bladder wall. Physical examination revealed café au lait spots with family history of cutaneous nodule. MRI Pelvis and cystoscopy performed. Biopsy of one area showed neurofibroma. Crieteria of diagnosing NF1 met.
Paediatric Urologist must aware of this rare presentation of NF1. Thorough physical examination play major role in diagnosis along with history and histopathology.
14:30 - 14:32
Vivien SCHMITZ 1, Jeremy GLASNER 1, Matthis SCHMID 1, Viktoria Amanda PFEIFLE 1 and Mazen ZEINO 2
1) University of Bern; Inselspital Bern, Pediatric Urology, Bern, SWITZERLAND - 2) Inselspital Universitätspital Bern, Department of paediatric urology, Bern, SWITZERLAND
Inflammotory myofibroblastic tumor (IMT), also known as inflammatory pseudotumor, is an uncommon tumor that occurs in different organs; it is extremely unusual in children and the involvement of kidneys is a rarity. Renal IMT in children is difficult to differentiate from malignant renal tumors such as Wilms tumor.
MATERIAL AND METHODS
We report a case of IMT in 8 year old girl who was presented in our outpatient clinic for assessment of urinary incontinence. The ultrasound showed a renal mass in the upper part of the left kidney, which was confirmed as 2 x2x2.3 cm renal tumor mimicking Wilms tumor. As the age of the child was not typical for Wilms tumor and the localization and extend of the tumor was promising for complete resection, interdisciplinary decision for primary surgery was made according to Umbrella/SIOP protocol.Nephron sparing surgery with complete R0 resection of the tumor was performed.
Histology of the resected tumor revealed inflammatory myofibroblastic tumor.
Despite the rarity of IMT, inflammatory pseudotumor of kidney should be kept in mind in the differential diagnosis of a solitary renal mass.
14:32 - 14:34
Zoran BAHTIJAREVIC 1, Nikica LESJAK 2, Diana STIPIC 3, Fran STAMPALIJA 1 and Goran ROIC 4
1) Children's Hospital Zagreb, Department of pediatric surgery, Division of pediatric urology, Zagreb, CROATIA - 2) Children's Hospital Zagreb, Department of pediatric surgery, Division for pediatric urology, Zagreb, CROATIA - 3) Children's Hospital Zagreb, Department of pediatric surgery, Zagreb, CROATIA - 4) Children's Hospital Zagreb, Department of pediatric radiology, Zagreb, CROATIA
We present a rare case of a splenogonadal fusion in a twelve-year-old male patient referred to the pediatric surgery clinic for testicular tissue presence evaluation.
MATERIAL AND METHODS
The boy in question had multiple congenital anomalies including bilateral kryptorchismus, Dandy-Walker syndrome, bilateral hand malformations, multiple facial dysmorphies, bilateral talipes equinovarus, right thoracolumbar scoliosis, syringomyelia. Due to all of them he has been put through many different surgical procedures which made his case extremely challenging from a diagnostic standpoint.
Since his birth he was being followed up for bilateral kryptorchimsus. On a diagnostic ultrasound (US), neither testis was found in the inguinal canal nor in his abdomen. In the first year of his life, diagnostic laparoscopy for bilateral kryptorchismus has been performed. Bilateral testicular agenesis with left ductus deferens ending blindly in the peritoneal fold was established. The right testicle was removed because it was found atrophic, while the left testicular tissue was not found at that time. Eleven years later he spontaneously entered puberty. Endocrinologic studies of his hormone levels were indicating a functional but dysgenetic testicle because of the increased level of FSH, while the tumor markers AFP and beta-hCG were negative. A secondary laparoscopy was performed, but no testicular tissue was found. Due to spinal surgery with MAGEC rods in place, a CT scan gave too many artifacts, while MRI was contraindicated. During CEUS on the lower pole of an elongated spleen, an ovoid structure was seen to be adjacent to the spleen. Prior US studies could not differentiate that. This was confirmed via addiotional laparoscopy and left orchidectomy was performed due to extremely short testicular vessels.
Splenogonadal fusion is a demanding diagnosis especially in association with other skeletal congenital anomalies due to which imaging studies tend to become more challenging.
14:42 - 14:44
Osama SARHAN 1, Abdulmohsin AL FADDAGH 2, Helmy OMAR 2 and Fouad KAWAI 2
1) Mansoura Urology and Nephrology Center, Urology, Mansoura, EGYPT - 2) King Fahad Specialist Hospital, Urology, Dammam, SAUDI ARABIA
Posterior urethral valves (PUVs) are the most common cause of congenital lower urinary tract obstruction. A more challenging but rare is a double urethral obstruction by concomitant anterior and posterior valves. Herein, we report a case of double obstruction by PUVs and AUVs in a male neonate with a right multicystic dysplastic kidney (MCDK) and left ectopic ureter.
MATERIAL AND METHODS
A male neonate was admitted in the neonatal intensive care unit immediately after delivery with a prenatal history of antenatal hydronephrosis and severe oligohydramnios with inability to pass urine and severely impaired renal function. Potter's facies was evident on examination. Laboratory findings showed a very high serum creatinine [705 mmol/L], hyperkalemia and metabolic acidosis. A small 5 Fr feeding tube was inserted with difficulty that drains few urine on insertion. Renal ultrasound showed a right MCDK, left echogenic kidney with moderate hydroureteronephrosis down to the bladder, a thick bladder wall with the catheter inside. A voiding cytourethrogram (VCUG) showed an average bladder capacity with no vesicoureteric reflux, a left sided bladder diverticulum and dilated posterior urethral with significant narrowing distal to the veru suspecting PUVs.
A cystourethroscopy at day 12 with a neonatal scope showed a combined AUVs and PUVs with small bladder capacity and non visualized both ureteric orifices. A small Pfannestiel incision was done with side to side uretero-cystostomy and a double J stent in the left ureter and a wide vesicostomy opening together with circumcision. Postoperatively, patient produced good amount of urine and his serum creatinine gradually dropped till 315 mmol/L. After an uneventful postoperative course, patient was discharged home.
Combined obstruction with AUVS and PUVS is a complex challenging congenital anomaly. When suspected on a VCUG, a careful cystourethroscopy is important for accurate diagnosis. A cutaneous vesicostomy may be useful in such cases.
14:44 - 14:46
Bashir AHMED 1, Sadaf ABA UMAR 2, Sajid SULTAN 2 and Adib-Ul-Hassan RIZVI 2
1) Sindh Institute of Urology & transplantation, Philips G Rensley Department of Paediatric Urology, Karachi, PAKISTAN - 2) Sindh Institute of Urology & transplantation, Philip G Ransley Department of Paediatric Urology, Karachi, PAKISTAN
Posterior Urethral Valve (PUV) bladder in oliguric patients requires rehabilitation before renal transplantation by medical management and hydro-distention. It can prevent Augmentation Cystoplasty. We present here the management of an oliguric valve bladder patient for Living Related Renal Transplantation(LRRTx).
MATERIAL AND METHODS
A 13 years old boy had ESRD secondary to PUV. Initially managed at the age of 7 months with PUV resection and right loop ureterostomy and achieved nadir serum creatinine 1.7mg% e GFR 17.3ml/min/1.73m2. In the next 10 years, he was under treatment by our paediatric nephrologist, referred back to us after starting his hemodialysis for lower urinary tract assessment before renal transplantation. We did U/S KUB, MCUG, cystourethroscopy, and Video urodynamics(VUDS). The bladder was rehabilitated by hydro-distention and oxybutynin. FVC and VUDS were performed, before a final assessment of renal transplantation.
The patient had oliguria(<100ml/24h). U/S KUB revealed kidneys 5cm, echogenic non-HDN, Bladder wall thickness 3mm. Video Urodynamics(VUDS) revealed, end filling volume 134 with p-det 20cm/H2O, voided 135ml with Q-max9.2ml/sec, p-det@Q-max44cm/H2O, PVR Nil. Cystourethroscopy revealed trabeculated bladder, mildly dilated right ureteric orifice. Bladder cycling by filling normal saline 80ml/hour, 14h/24h, next 39 days and Tab:Oxybutynin 5mgxBD, bladder capacity gradually increased up to 300ml. UFM revealed Pre void 225ml, Qmax 12.6, PVR 10ml. LRRTx was performed after acceptable VUDS. Post-transplantation, FVC revealed voided volume between 110-425 ml. lower stump of ureterostomy is used as Mitrofanoff channel for nighttime drainage. Graft kidney non-HDN and maintain S.Cr between 0.5-1mg%.
Valve bladder have diverse presentation may become dysfunctional in anuric patients. Our case highlight that anuric valve bladders can be made functional and suitable for LRRTx. Augmentation cystoplasty can be avoided, as renal transplant outcome is compromised in the augmented bladder because of repeated UTI episodes.
14:46 - 14:48
Arianna MARIOTTO 1, Amit MANIYAR 2 and Anju GOYAL 1
1) Royal Manchester Children's Hospital, Manchester, UK, Department of Paediatric Urology, Manchester, UNITED KINGDOM - 2) Royal Manchester Children's Hospital, Manchester, UK, Department of Paediatric Radiology, Manchester, UNITED KINGDOM
The authors aim to present a rare case of congenital ureteral cyst and its surgical management.
MATERIAL AND METHODS
A baby girl was antenatally diagnosed with left intrabdominal cyst and left hydronephrosis (HDN).
A postnatal abdominal ultrasound scan (USS) confirmed the left HDN and the cyst measuring 4.3 x 4 x 3.5 cm, but the relation if any to urinary system was not clear. An intravenous urogram did not show any contrast in the cyst. MCUG was normal. A retrograde study of left urinary tract showed contrast going into the cyst and identified a cystic dilatation of a segment of upper ureter about 1 cm below the PUJ, akin to type 1 choledochal cyst. It was excised laparoscopically and an end-to-end ureteral anastomosis was planned. However, due to inability to pass a ureteric stent through the vesico-ureteric junction (VUJ), a second pathology of VUJ stenosis was identified. A left ‘Y' ureterostomy was performed to avoid risk of devascularisation of lower part of ureter if ureteric reimplantation was done.
The patient recovered well. The histological diagnosis was a simple ureteric cyst. At 6 months of age a DMSA scan and an USS showed symmetrical function of the kidneys and significant improvement of the left hydronephrosis. A contrast study from the ureterostomy documented a narrow intramural ureter segment at the VUJ. Child is awaiting ureteric reimplantation and ureterostomy closure.
We report a rare case of congenital ureteric cyst. Only 1 such case has been reported in the literature before. A staged surgical approach is paramount to the safe management of this rare anomaly.
14:48 - 14:50
Lien DOSSCHE 1, Evelien SNAUWAERT 1, Agnieszka PRYTULA 1, Joke DEHOORNE 1, Ann RAES 1, Lieselot PEREMANS 1, Noortje VAN OOSTRUM 2, Caroline JAMAER 3, Erik VAN LAECKE 3, Anne-Françoise SPINOIT 3 and Johan VANDE WALLE 1
1) Ghent University Hospital, Pediatric Nephrology, Ghent, BELGIUM - 2) Ghent University Hospital, Department of Gynaecology and Obstetrics, Ghent, BELGIUM - 3) Ghent University Hospital, Department of Urology, Ghent, BELGIUM
Ureteropelvic junction obstruction (UPJO) is a common cause of antenatal detected persistent hydronephrosis. However, only in 2-5% of cases UPJO is bilateral, the majority occurs in boys (male-to-female ratio = 13:1).
A female fetus followed for antenatal bilateral hydronephrosis suspected to be caused by bilateral UPJO, presented at 33 weeks gestation with acute severe oligohydramnios and no bladder filling. At the previous antenatal scan at 28 weeks gestation, there was no oligohydramnios and normal bladder filling noted. She was delivered at 34 weeks by Cesarean section, and bilateral UPJ obstruction was confirmed, together with anuria and renal failure. Percutaneous bilateral nephrostomies were performed with the eventual recovery of the diuresis. Right kidney pyeloplasty was performed successfully with the recovery of renal failure, left kidney pyeloplasty is scheduled.
Antenatally detected bilateral UPJO is rare and not well described in the literature. Acute severe oligohydramnios in these cases is unexpected. Since urine production recovered completely once the nephrostomies were in place, the reason for this sudden phenomenon of oligohydramnios remains speculative and can only be related to an increasing degree of obstruction relative to poor or decreasing excretory pressure.
In conclusion, late-onset acute severe oligohydramnios can occur with bilateral UPJ obstruction.
14:50 - 14:52
Maria Helena SIRCILI 1, Rafael LOCH BATISTA 2, Enoch Quindere DE SÁ BARRETO 3, Solange PAIVA BUENO 4, Anna Flávia FIGUEREDO BENEDETTI 2, Sorahia DOMENICE 2, Berenice BILHARINHO DE MENDONÇA 2 and Francisco TIBOR DENES 1
1) Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, Pediatric Urology, São Paulo, BRAZIL - 2) Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, Endocrinology, São Paulo, BRAZIL - 3) Hospital e Maternidade Dr Mario de Moraes Atenfelder Silva, Gynecolgy, São Paulo, BRAZIL - 4) Hospital e Maternidade Dr Mario de Moraes Atenfelder Silva, Neonatology, São Paulo, BRAZIL
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. Its heterogeneous clinical manifestations includes: rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties. Most of these symptoms may not be present at birth. Clinical management of BBS depends on syndrome's presentation. At least 20 BBS genes have already been identified. Objective- To describe a patient who had antenatal diagnosis of macrosomia fetal and intraabdominal retrovesical cystic mass associated with moderated hydronephrosis.
MATERIAL AND METHODS
At birth, the patient was clinically stable normal voiding but with acute renal failure. At physical examination, the newborn presented right hand with polydactyly and syndactyly at the 4th, 5th and 6th fingers, an abdominal mass in the left flank of around 7cm, and female external genitalia but no vaginal introitus was identified. The ultrasound revealed bilaterally increased renal parenchymal echogenicity with moderated bilateral hydronephrosis and a retrovesical cystic mass 8,0 x 5,5 x 4,6 cm - volume: 105 cm³ that corresponded to a huge hydrocolpos.
Results: Vaginostomy was performed to decompress the urinary tract with drainage of 60 ml of viscous liquid. Renal function was recovered after 2 weeks. At age of 4 months, she presented obesity and the diagnosis of Bardet Biedl syndrome was suspected. Large-scale exomic multigenic panel sequencing identified a novel pathogenic allelic variant (p.T516Rfs*7) (NM_024685) in the exon 2 of BBS 10 gene.
Conclusion: We report a Brazilian child with a rare BBS clinical presentation and a novel pathogenic BBS 10 allelic variant.