prune belly syndrome,case report

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CASE REPORT RUPESH GAUTAM ,MBBS FIRST YR RESIDENT JRRMMC,DEPATRMENT OF RADIOLOGY

History : 

History 17 Yrs female, primi , full term pregnanc y Antenatal history: checkup done –no records of antenatal ultrasound, no history of medicine intake during antenatal period except for multivitamins. Normal uncomplicated vaginal delivery

Birth History : 

Birth History Child birth - apgar score 8/10 ,no cyanosis, wt -3.1kg, height -42cm ,normal cry External apperanace – Bulging flanks , thin flabby wrinkled skin ,bilateral testis non palpable within the scrotum. Systemic examn, Chest –unremarkable Cardiac –Normal. Renal Function-Creatinine 107.84(27-70)

External experience : 

External experience

Babygram : 

Babygram

Voiding Cysto Uretherogram : 

Voiding Cysto Uretherogram

VCUG contd… : 

VCUG contd…

VCUG contd….. : 

VCUG contd….. Post voiding

Normal urethra : 

Normal urethra

Ultrasound image : 

Ultrasound image

Ultrasound image contdd… : 

Ultrasound image contdd…

Ultrasound image contdd… : 

Ultrasound image contdd…

Ultrasound image contdd… : 

Ultrasound image contdd…

Discussion : 

Discussion Diagnosis Why Prune belly Syndrome ? Short discussion on prune belly syndrome Differential Diagnosis Management

Prune Belly syndrome : 

Prune Belly syndrome Also known as Eagle –Barret syndrome /triad syndrome /abdominal musculature deficiency syndrome first described in 1839. 1 in 35,000-50,000 live births almost exclusively in males; less than 3% of cases in females 4% of all cases are products of twin pregnancies with 4 times higher incidence than singeleton. 2 times higher if pregnancy is less than 25 yrs old.

Introduction contd… : 

Introduction contd… 20% of patients are stillborn 30% die of renal failure or urosepsis within the first two years of life remaining 50% have varying degrees of urinary pathology.

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TRIAD SYNDROME Abdominal wall defect Urinary tract abnormality Cyrptorchidism

Pathogenesis : 

Pathogenesis Urinary Tract Obstruction Primary Mesodermal Developmental Defect Teratogenic effect

Urinary Tract Obstruction : 

Urinary Tract Obstruction hypo plastic or dysplastic prostate obstruction of the urethra overdistension of the bladder and the upper urinary tract stretches the abdominal wall damage to the abdominal musculature and interferes with the descent of the testicles. (Wheatley et al. 1996)

Pathogenesis contd… : 

Pathogenesis contd… 2.Primary Mesodermal Developmental Defect. 3.Teratogenic effect:

Diagnostic imaging (4 groups) : 

Diagnostic imaging (4 groups) Group 1 :potters syndrome Very severe,still birth (pulmonary dysplasia). Kidneys severly dysplastic or absent complete uretheral obstruction may be associated with talipes equinovarus. Group 2 : Born with severe urinary tract abnormalities abdomina wall defects(+) Without pulmonary hypoplasia

Radiological types contd… : 

Radiological types contd… Group 3 :mild involvement of abdominal wall and urinary tract . Group 4 : Pseudo prune belly : Normal abdominal wall, absent or incomplete cryptorchidism, urinary tract like that seen with prune-belly syndrome

Abdominal Musculature: : 

Abdominal Musculature: Myopathy , patchy and asymmetrical lower ,lateral rectus involvement . Appearance initially wrinkled later "pot belly" appearance

Kidneys : 

Kidneys may be dysplastic, cystic, hypoplastic or grossly hydronephrotic prognosis may depend on degree of kidney damage chronic UTI and obstructive uropathy may lead to ESRF

Ultrasound image of Kidneys : 

Ultrasound image of Kidneys

Ureters : 

Ureters hydro- or megalo-ureter with characteristic marked dilatation, tortuous, and elongated distal ureter most severely affected Congenital ureterovesical junction obstruction -10% vesicoureteral reflux present in most (>50%)

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Excretory urography reveals tortuous dilated ureters

Urethra and prostate : 

Urethra and prostate often widely dilated may be an area of abrupt narrowing distal to dilatation. 10% with posterior uretheral valve ( Overlapping syndrome) lack of prostate differentiation / hypoplastic

Bladder : 

Bladder markedly enlarged may show an "hourglass configuration" on voiding cystogram lateral displaced ureteral orifices Complete emptying mostly patent urachus at times

Normal Vs Prunbelly : 

Normal Vs Prunbelly

Gonads : 

Gonads Cryptorchidism testicles usually intra-abdominal at the sacroiliac level complications are infertility and azospermia also at risk for testicular malignancy

Musculoskeletal : 

Musculoskeletal 20% to 50% of cases talipes equinovarus (club foot)congenital dislocation of the hipspectus excavatum or carinatum Others: polydactyly, scoliosis,, torticollis

Respiratory : 

Respiratory Classified into 2 groups: Pulmonary Hypoplasia : oligohydramnios associated with pneumothorax and; pneumomediastinum Recurrent Lobar Atelectasis and Pneumonia characteristic thoracic pectus deformity with rib flaring decreased AP diameter of chest

Other system involvement : 

Other system involvement Cardiovascular- 10% cases ASD,VSD,TOF Other Gastrointestinal – gastroschisis imperforate anus malrotation with volvulus

Differential diagnosis : 

Differential diagnosis Posterior uretheral valve Megacystis Microcolon Intestinal Hypoperistalsis syndrome Severe primary vesico ureteral reflux

Posterior uretheral valve : 

Posterior uretheral valve most common cause of bladder outlet obstruction in male children, 1 in 5000 live births Anatomy: anterior urethra (bulbous and penile urethra) posterior urethra (membranous and prostatic urethra) abnormally anterior insertion of the mesonephric (wolffian) duct on the cloaca before its division into the urogenital sinus and the anorectal canal. . 3 types (young classification) Type 1(95%) ,bicuspid valve that radiates distally from the posterior edge of the verumontanum to the anterior proximal membranous urethra Hydronephrosis,vesicoureteral reflux,bladder dysfunction

PATHOLOGICAL ANATOMY : 

PATHOLOGICAL ANATOMY

Posterior uretheral valve vs PBS images : 

Posterior uretheral valve vs PBS images Posterior uretheral valve Prune belly

Megacystis Microcolon Intestinal Hypoperistalsis syndrome : 

Megacystis Microcolon Intestinal Hypoperistalsis syndrome predominantly in females ,4:1 Physical Examn- 1.abdominal mass, absent bowel sounds, and feeding intolerance with bilious emesis 2.Cryptorchidism(-) unlike in Prunebelly syndrome. Etiology :1.Extensive intramural fibrosis leads to destruction of intestinal intraneural network. 2.Enlarged bladder prevents normal intestinal rotation. Radiographically- 1. Enlarged Urinary Bladder (88%) with no obstruction 2. Hydronephrosis( 53%) with hydroureter 3. Dilated stomach with malroataion/vovlulus

Megacystis Microcolon Intestinal Hypoperistalsis syndro me images : 

Megacystis Microcolon Intestinal Hypoperistalsis syndro me images

Management : 

Management Primarily conservative Relive obstruction-pyelostomies or vesicostomies, Treatment of UTI Anterior abdominal wall repair – to prevent respiratory,intestinal and urinary complications. Orchidopexy- increased risk of malignany with undescended testis

References : 

References Clinical urography –pollack,Mc clennan Prune Belly Syndrome: Clinicopathologic Study of 29 Cases Authors: J. Carlos Manivel a;  Guido Pettinato b;  Yuri Reinberg c;  Ricardo Gonzalez c;  Barbara Burke a; Louis P. Dehner a Prune belly syndrome:T E Herman1 and M J Siegel1 1Department of Radiology, Mallinckrodt Institute of Radiology, St Louis Children's Hospital, Washington University School of Medicine, St Louis, MO, USA From the Departments of Pediatric Radiology (T.B., A.A., J.G.) and Pediatric Urology (P.L.P.), Hospital Infantil La Paz, Paseo de la Castellana 261, Madrid 28046, Spain. Recipient of a Certificate of Merit award for an education exhibit at the 2000 RSNA scientific assembly. Prune belly syndrome associated with exomphalos and anorectal agenesis.Walker J, Prokurat AI, Irving IM. Urtila R, Popa I, Berinde L, Tanase D, Pop L, Raica A. Pediatrie (Bucur). 1992 Jul-Sep;41(3):61-5. Review. Romanian. PMID: 1327234 [PubMed - indexed for MEDLINE Crompton CH, MacLusky IB, Geary DF.Department of Pediatrics, Hospital for Sick Children, Toronto, Canada PMID: 17039740 [PubMed - indexed for MEDLINE]

References : 

References Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA- abnormal development of the prostate in PBS may be explained as a pressure-induced dysplasia rather than a primary maldevelopment Journal of Indian association of paediatric surgeon Vol 9 (oct-dec 2004).

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