1 day old male child presented with Apenia and Meconium Ileus. USG confirmed urethra opening into the lower rectum with ectopic kidney on the right side. Ileus was managed and successfully treated with acetyl cysteine washouts. Unfortunately due to lack of experience in handling such a case the baby was referred to a higher center for management of Apenia. What would have been the ideal treatment strategy?



It is an extremely rare condition and the managment of such patients is really challenging. It often presents with multiple congenital defects involving the genitourinary as well as other systems of the body. It involves multidisciplinary approach and due to extreme rarity of case, experience for managing such cases is also weak. Patients should be reared as female with bilateral orchiectomy, vaginoplasty, labia reconstruction and urethral transposition but how will the patient do in long term is not predictable. Few studies say that eventually they become psychosocially male so masculinizing surgery should be performed. Over all a very challenging case

Vaginoplasty and orchidectomy have been cited in literature as the most commonly done procedures for such cases. However, as you said it may lead to psychological problems in adulthood. At what age should the masculinizing be performed?

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Neonatal intestinal obstruction with aphallia Exploratory laparotmy for obstruction with genetic workup later, Rectourethral fistula discnection cn be dne during definitive surgery At present stoma diversion required like transverse colostmx Phaloplasty can be done at puberty We manage such cases as Paediatric surgeon Patient to be refered to Paediatric surgeon

Congratulations! Your case has been selected as Case of the day and you have been awarded 5 points for sharing the case. Keep posting your interesting cases, Happy Curofying!

Very rare Require multiple specialist approach Urethra to be transferred anterior If pt develop as male can think of penis reconstruction with implant

This is most rarest rare case & managing such is challenging.In sch cases multiple congenital defects involving genitourinary & other defects. In such cases bilteral orchidectomy, vaginoplasty , labia reconstruction and urethral transposition .

meconium aspirated asphxiated baby so need specialised care. what the role of cysteine wash please give the reference.last photograph show mucous so most likely a case of intersucsception .typical case of mas .

It was a case of Meconium Ileus. Acetyl cysteine wash per rectally dissolve the meconium plugs. Ileus was successfully managed this way. My query is regarding Apenia!

@Dr. Madhav Tiwari , please share the case with paediatric surgery on curofy so that we can have some more insight in this case. Thanks

Extremely rare condition and management of such cases challenging and mortality very high. Despite of all we have to fight it out .pt needs highly specificated facilities institution therefore

Looks like urogenital sinus anomaly .. with descended testis.. pt has to undergo MRI urogram.. n then decided

Referring such case is the only way left with you.

Yes I agree with Dr level. This type of congenital defects should be dealt by paedo. Surgeon.
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