Márcio Lopes Miranda

Laparoscopic upper-pole nephroureterectomy in infants

OBJECTIVE Report the results of laparoscopic upper-pole nephroureterectomy in infants. MATERIALS AND METHODS Six consecutive infants underwent 7 laparoscopic upper-pole nephroureterectomy. Pre and postoperative evaluation included renal sonography, voiding cystourethrogram and renal scintigraphy. All infants showed upper-pole exclusion. Surgery was performed through a transperitoneal approach with full flank position in all infants. Three or 4 ports were used according to the necessity of retracting the liver. The distal ureter was ligated close to the bladder whenever reflux was present and the dysplastic upper-pole was divided with the help of an electrocautery. Data regarding operative time, postoperative use of analgesics, time to resume oral feeding, hospital stay and tubular function were collected and analyzed. RESULTS All procedures were concluded as planned. Mean operative time was 135 min. One patient underwent staged bilateral upper-pole nephrectomy. There were no complications and the postoperative hospital stay was 48 hours in 5 procedures and 24 hours in 2 procedures. Pain medication was required only in the first day. Renal tubular function showed improvement in half of the cases. CONCLUSION Laparoscopic partial nephrectomy is a safe and feasible procedure in infants. Due to the magnification provided by the lenses, a better vision of the structures is achieved, facilitating selective dissection of vascular upper-pole, renal parenchyma and distal ureter. This approach is less damaging to the lower pole, and is associated to low morbidity and a short hospital stay.

WILMS TUMOR IN A PRENATALLY DIAGNOSED MULTICYSTIC KIDNEY

Although conservative treatment of multicystic dysplastic kidney is generally accepted, there are reports of complications when such a kidney is retained, particularly malignant degeneration.1.2 We report on a neonate with Wilms tumor in a prenatally diagnosed multicystic dysplastic kidney. To our knowledge this is the fifth case of Wilms tumor arising in a multicystic dysplastic kidney but only the second diagnosed prenatally.

Evolução de 58 fetos com meningomielocele e o potencial de reparo intra-útero

RESUMO - Introducao:O diagnostico pre natal da meningomielocele (MM) permite melhor planejamento de sua abordagem e,mais recentemente ,um possivel reparo intra-utero. Objetivo:Descricao da evolucao perinatal de fetos com MM,acompanhadosem um centro de referencia em Medicina Fetal,identificando os possiveis fetos candidatos a cirurgia intra-uterina. Metodo:Analiseretrospectiva descritiva de 58 casos de MM fetal, atendidos no CAISM-UNICAMP, de janeiro de 1997 a dezembro de 2001,identificando-se os casos cuja indicacao de cirurgia fetal seria possivel. Resultados: Media da idade gestacional ao diagnosticode 29 semanas (17-39);nivel da lesao acima da regiao sacral em 85%;associacao com hidrocefalia em 86%;taxa de complicacoescirurgicas de 39%.Na evolucao,98% apresentaram bexiga neurogenica e 60% deficiencia neuro-mental.O potencial reparo intra-utero foi de 42%. Conclusao:MM esta associada a graves e frequentes sequelas.Quase um terco dos nossos casos poderiam tertido a cirurgia fetal como opcao terapeutica.PALAVRAS-CHAVE: diagnostico pre-natal, meningomielocele fetal, hidrocefalia, cirurgia fetal.Fetal myelomeningocele and the potential in-utero repair: follow-up of 58 fetusesABSTRACT - Introduction:Prenatal diagnosis of myelomeningocele (MM) allows planning its management and,recently,a possiblein utero repair. Objective: To describe the perinatal outcome of fetuses with MM, in a Fetal Medicine Unit, identifying possiblecandidates for the in utero surgical repair. Methodo:Retrospective and descriptive study of 58 cases of prenatally diagnosed MM,at CAISM-UNICAMP, from January 1997 to December 2001, identifying possible fetal candidates for in utero repair. Results: thediagnosis mean gestacional age was 29 weeks (17-39);level of lesions was above sacral region in 85%,association with hydrocepha lyin 86%. Surgical complications were present in 39% of the neonates. During follow-up, 98% presented neurogenic bladder and60% neurological/mental handicap. Twenty eight fetuses (42%) could have indication of in utero repair.Conclusion:MM isassociated with severe and frequent poor results.Almost one third of our cases could had fetal repair as a treatment choice.KEY WORDS: prenatal diagnosis, myelomeningocele, hydrocephaly, fetal surgery.

Monitoring intravesical pressure during gastroschisis closure. Does it help to decide between delayed primary or staged closure

Introduction and objective: Correction of gastroschisis may be accomplished by either primary or staged closure or even delayed primary closure after the use of a preformed silo. However, there is neither a consensus on the best approach nor established criteria to favor one method over the other. The aim of this paper was to investigate the role of intravesical pressure (IVP) as a tool to prevent abdominal compartment syndrome in newborns undergoing correction of abdominal wall defects. Methods: We retrospectively analyzed 45 newborns with gastroschisis in whom trans-operative intravesical pressure was used to choose between primary or staged closure. A threshold of 20 cm H2O was used and the outcomes between the two methods were compared. Results: In 24 children delayed primary closure was achieved while the remaining 21 underwent staged reduction and closure. There was no difference in the frequency of complications, time to begin oral feeding, length of parenteral nutrition or length of hospital stay between the children of the two groups. The incidence of temporary oliguria or anuria, averaged 33% and it was similar in both groups of children. Conclusion: The data here presented suggests that monitoring intraoperative IVP during correction of gastroschisis may help to select children in whom staged closure is necessary, keeping their complication rate and overall outcome similar to that of children undergoing delayed primary closure. Further prospective studies should investigate more deeply the correlation between type of closure and the development of a compartment syndrome.

Congenital Perineal Lipoma Presenting as Ambiguous Genitalia

BACKGROUND Congenital perineal lipoma is extremely rare and may lead to a misdiagnosis of ambiguous genitalia. CASE REPORTS We report on two girls referred to our service for ambiguous genitalia. Patient 1 (17 days old) and patient 2 (2 months old) had unremarkable gestational and perinatal histories. Both had normal female external genitalia and a 46,XX karyotype. Patient 1 had a polypoid, protruding 3.0 x 2.0 x 1.5-cm phallic-like mass arising at the inferior border of the left labium majora, and patient 2 had a similar mass of 1.5 x 1.5 x 1.0 cm at the same site and an imperforate anus. In both cases the mass was removed and found to be a lipoma. DISCUSSION To our knowledge, perineal lipoma has been reported only in eleven girls, nine of them with associated anorectal malformation. Migration and fusion of the labioscrotal folds and formation of the urorectal septum are simultaneous developmental events occurring in the same region, which may explain the association of perineal lipoma and anorectal malformations.

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene

Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. The molecular analysis of P450 oxidoreductase gene revealed compound heterozygosis for the nonsense p.Arg223*, and the novel missense p.Met408Lys, inherited from the father and the mother, respectively.

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 cases) needed sex reassignment. Conclusions. In this large DSD sample with ambiguous genitalia, the 46,XY karyotype was the most frequent; in turn, congenital adrenal hyperplasia was the most frequent etiology. Malformations associated with DSD were common in all groups and low birth weight was associated with idiopathic 46,XY testicular DSD.

Ovotesticular disorder of sex development with unusual karyotype: patient report

Abstract Background: Ovotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads. OT-DSD is a rare cause of sex ambiguity, and the most common karyotype is 46,XX; mosaics and chimeras are found only in 10%–20%. Aim: To report a case of an OT-DSD patient with a rare karyotype constitution. Case report: A 2-month-old child with male sex assignment was referred to our clinic for investigation of sex ambiguity. He was the second child of healthy unrelated parents; pregnancy and labor were uneventful. On physical examination, he had a 2.3-cm phallus and perineal hypospadias (Prader grade III); the right gonad was in the labioscrotal fold and the left was found in the inguinal channel. Karyotype was 46,XX/47,XXY/48,XXYY. Anatomopathological examination of gonads revealed right testis and left ovotestis. The male sex assignment was maintained; the child underwent left gonadectomy, removal of Mullerian structures and urethroplasty. Conclusion: A thorough revision of literature revealed a single case of OT-DSD with the same chromosome constitution. Gonadal biopsy is necessary to establish diagnosis in cases of sex chromosome mosaicism.

Use of BiPAP for safe anesthesia in a child with a large anterior mediastinal mass

iod of apnoea safely tolerated is significantly shorter (5). Therefore, we can realize that lack of data in so very small children does not allow to suggest which is the best device for difficult airway management. On the other hand, our experience with Apert syndrome, shows that Airtraq practice can be very useful even in cases of craniofacial dysmorphisms. Fabio Sbaraglia Rosanna Lorusso Rossella Garra Maria Sammartino Department of Anaesthesia and Intensive Care, Catholic University of Sacred Heart, Rome, Italy Email: marinasammartino@libero.it

Genitoplastia feminizante e hiperplasia congênita das adrenais: análise dos resultados anatômicos

OBJECTIVE To evaluate the anatomical and cosmetic results of feminizing genitoplasty in girls with ambiguous genitalia due to Congenital Adrenal Hyperplasia (CAH). CASUISTIC AND METHOD Twenty-seven females with genital ambiguity (Prader III-V) due to CAH underwent an one-stage feminizing genitoplasty and were followed for a mean time of 4 years. In twelve girls, two cutaneous labioscrotal island-flaps were associated with the conventional genitoplasty, to decrease the excess of labia majora and to enlarge the vaginal introitus. Urinary tract infections were observed in sixteen girls in the preoperative and in only seven in the postoperative period. The cosmetic results were obtained by the systematic anatomical evaluation of the different structures that compose the genitalia. RESULTS The results of clitoroplasty were considered good in 63% of the cases; however, 4 girls developed clitoral atrophy. An excess of labia majora was present in 25% and persistence of the urogenital sinus occurred in 11% (three children without labioscrotal island flap). The labioscrotal island flap was considered technically feasible and reproducible. Five girls had to be re-operated. The cosmetic results were considered excellent or good in 63% of the cases, satisfactory in 18.5% and unsatisfactory or bad in 18.5%. CONCLUSIONS The anatomical and cosmetic results were good in majority of the cases; however, some technical aspects should be adjusted, to avoid irreversible sequels and re-operations.