Bilateral methachronous testicular germ cell tumor and testicular microlithiasis in a child: Genetic analysis and insights. A case report.

OBJECTIVES: To report our experience with a case of a child with bilateral testicular micro-lithiasis (TML) who developed bilateral metachronous testicular germ cell tumor (TGCT) and determine the most appropriate follow-up and care management in children with testicular micro calcifications in regards to the theoretical risk of testicular cancer. CASE REPORT: A 12 year-old boy was diagnosed with TGCT and TML. Ten years after complete remission, he presented with a recurrence on the contralateral testis. Genetic screening was performed on both resected and the patient's karyotype was analyzed. RESULTS: Blood karyotype was normal. Aberrations were found in the tumor karyotype. CGH array showed alterations in chromosome arm 12p. DISCUSSION: TML is frequently associated with testicular malignancy in adults: in 16.9% of cases the normal contralateral testicle develops TML in TGCT. Recent works of literature find no relationship between TML and cancer in general, but in patients with additional risks, the relationship becomes stronger. Some authors suggest that environmental components and genetics are determinant factors. This is highly suspected in our reported case. It would seem that TML is not a precancerous lesion per se, but rather a marker of an at-risk situation. Long term evolution is uncertain and regular self-palpation that starts before puberty is the only way to ensure proper screening and monitoring. CONCLUSION: TML have been suspected to be a sign of testicular dysgenesis syndrome, which yields a risk of developing TGCT in case of noxious associations. In patients with a history of TGCT contralateral TML is alarming and aggressive surgical management should be discussed. Therapeutic education of these patients on self-palpation is the best way to ensure proper follow-up.

[Secondary megaureter: A rare complication of Deflux® endoscopic management of vesicoureteral reflux in children]. / Le méga-uretère secondaire : une complication rare du traitement endoscopique du reflux vésico-urétéral par Deflux® chez l'enfant.

Endoscopic management is the gold standard for symptomatic low-grade vesicoureteral reflux (VUR) in children. Deflux® (hyaluronic acid/dextranomer) injection is highly effective and has very few complications. We report on two cases of secondary megaureter after Deflux® injections. In the first case, a boy presented with Grade 4 VUR. He received a bilateral Deflux® injection with a total of three syringes. The postoperative ultrasound was normal. However, a check-up ultrasound 3 years later showed a significant ureteropyelocalyceal dilatation, with stasis and decreased renal function on scintigraphy, the reason why antireflux surgery (Cohen procedure) was performed. In the second case, a girl diagnosed with bilateral VUR at birth received bilateral injections with one syringe on each side at the age of 12 months. One month later, the ultrasound showed a dilation of the distal ureters (diameter of the right ureter, up to 10mm; left ureter, up to 6.7mm). The child underwent surgery 8 months later (Cohen procedure) because of iterative pyelonephritis and persistent ureter dilatation. Only one previous case has been described in the literature. In our experience, this complication has occurred only twice in 452 injections (4‰). In conclusion, endoscopic treatment with hyaluronic acid/dextranomer injection is a minimally invasive procedure that improves the situation in cases of VUR. It has few complications. Other than failure, there is a low risk of secondary expansion requiring, in our opinion, ultrasound verification over the long term.

[Umbilicus in children]. / L'ombilic chez l'enfant.

The umbilicus is our first scar. It is the last remain of our life in utero. Besides the umbilical hernia, a common pathology during the first three years of life that rarely requires surgery, there are some rare congenital abnormalities such as gastroschisis and omphalocele, which occur in about 1-5/10,000 births. Gastroschisis is a birth defect of the anterior abdominal wall, through which the fetal intestines freely protrude and are not covered by any membranes. During the 13th week prenatal ultrasound, the umbilical cord can be seen to be properly attached while the intestines float freely in the amniotic fluid. This defect is most common in young women who smoke and/or use cocaine and is not typically associated with genetic disorders. Omphalocele is an average coelosomy, in which a visceral hernia protrudes into the base of the umbilical cord. Omphalocele is typically diagnosed during the prenatal phase, and occurs most commonly in older mothers. It is frequently associated with genetic and morphologic abnormalities, therefore a karyotype should automatically be performed. For these two pathologies, the surgical problem lies in managing, during the reintegration, the conflict container/content responsible to lower vena cava syndrome and disorders ventilatory. Deciding on the technique will depend on the clinical form, and on the tolerance to reinsertion. The success of the surgery is directly linked to the postoperative emergence care for the pre-, per- and postnatal phases. The umbilical cord is preserved in the case of a gastroschisis. A primary or secondary umbilicoplasty will be performed for an omphalocele closure. The umbilicoplasty aims to create an umbilicus in a good position by giving it a shape, ideally oval, but also and especially an umbilication. The primary or secondary umbilicoplasty remains a challenge in a growing abdomen (change in position, deformation, loss of intussusception with growth). Many techniques are described: cutaneous flaps randomly placed, excision and skin plasty, resection and controlled wound healing. The choice of technique is a matter of practice but must be done in a rational way, depending on the scar condition when secondary reconstruction, and with minimal scarring, for primary reconstruction. To avoid morphological changes associated with growth, secondary umbilicoplasty should be proposed after the age of five.

Hypospadias.

Hypospadias is a hypoplasia of the tissues forming the ventral side of the penis responsible of an ectopic meatus of the urethra. This congenital anomaly results in a fusion defect of the two epithelial surfaces of the urethral groove between the 11th and the 18th weeks of development. The earlier this process arrests, the more the form is proximal and severe. This is the second genital malformation in boys with 1 case per 250 male births. Its origin is often multifactorial (genetic, endocrine, placental and environmental). Three anatomical forms exist: proximal, middle and distal (the most common). Additional exams (endocrine, genetic and morphological) are realized early, before surgery, in case of severe hypospadias, familial, associated with cryptorchidism, bifid scrotum, micropenis and/or skeletal, kidney, and/or heart abnormalities. It clarifies pubertal prognosis. The surgical management is made between 6months and 12months: it limits the functional and aesthetic impact of this malformation. Many surgical techniques are described. They all have in common the three operating time: penile straightening, urethroplasty, reconstruction of the ventral side of penis. They are based on direct sutures, local flaps pedicled, and grafts (skin or mucosa). The rate of postoperative complications is between 6 and 30 %. The two main complications are fistulae and stenoses. The psychological follow-up of these children is necessary to adulthood. Surgery of hypospadias remains a delicate surgery and must be performed by experienced surgeons.