A síndrome de Ochoa é rara, e seus principais problemas clínicos são frequentemente não reconhecidos. Descrevem-se aqui características faciais de seis pacientes para auxiliar profissionais de saúde a reconhecer o sorriso invertido que eles apresentam e encaminhá-los para o tratamento adequado. Os prontuários médicos foram revisados e a condição urológica dos pacientes foi reavaliada clinicamente. A média de idade na última avaliação foi de 15,5 anos, variando de 12 a 32 anos. O seguimento médio foi de 35 meses (12 a 60). Os sintomas iniciais foram infecções do trato urinário em quatro pacientes (67%) associadas com enurese e incontinência urinária em três deles (50%). Um paciente apresentou infecções do trato urinário isoladamente e dois apresentaram sintomas do trato urinário inferior, porém sem infecções. O tratamento inicial consistiu em cateterismo intermitente limpo, com anticolinérgicos em todos os pacientes. Reconstrução urinária foi realizada em quatro pacientes (67%) por meio de ampliação vesical. Dois pacientes apresentaram doença renal em estágio terminal no seguimento, um recebeu transplante renal e outro manteve-se em lista de espera para transplante renal. Consanguinidade familiar esteve presente em apenas um caso. Essa condição significativa é rara, porém deve ser reconhecida por pediatras, nefrologistas e urologistas, a fim de instituir tratamento urológico agressivo precoce.

Ochoa syndrome is rare and its major clinical problems frequently unrecognized. We describe facial characteristics of six patients to help health professional recognize the inverted smile that these patients present and refer them to proper treatment. Patients’ medical records were reviewed and patients’ urological status clinically reassessed. At last evaluation patients’ mean age was 15.5 years, and age ranged from 12 to 32 years. Mean follow-up was 35 months (12 to 60). Initial symptoms were urinary tract infections in four patients (67%) associated with enuresis and incontinence in three of them (50%). One patient had only urinary tract infection and two lower urinary tract symptoms without infections. Initial treatment consisted of clean intermittent catheterization with anticholinergics for all patients. Four patients (67%) were submitted to bladder augmentation. Two patients had end-stage renal disease during follow-up, one received kidney transplantation and one patient remained on the waiting list for a renal transplantation. Familial consanguinity was present in only one case. This significant condition is rare, but it must be recognized by pediatricians, nephrologists and urologists in order to institute early aggressive urological treatment.

RESUMO Apresentamos o caso de um adolescente de 16 anos com rabdomiossarcoma paratesticular, submetido à linfadenectomia retroperitonial por tumor clínico estágio I (tomografia computadorizada retroperitonial normal), cujo resultado cirúrgico demonstrou três linfonodos aumentados e positivos para doença metastática; o paciente foi encaminhado para tratamento quimioterápico adjuvante. Este caso sugere que o protocolo Intergroup Rhabdomyosarcoma Study Group IV é questionável para adolescentes com rabdomiossarcoma paratesticular, e que a tomografia computadorizada de abdome negativa para linfonodos não deve afastar a necessidade de linfadenectomia retroperitoneal.

ABSTRACT We report on a 16-year-old male with paratesticular rhabdomyosarcoma who underwent retroperitoneal lymph node dissection due to a stage I tumor (normal retroperitoneal computed tomoghaphy). The surgical finding was three enlarged nodes, positive for metastatic disease. Patient was referred to adjuvant chemotherapy. This case suggests that the Intergroup Rhabdomyosarcoma Study Group IV protocol is subject to questions regarding adolescents with paratesticular rhabdomyosarcoma, and that negative retroperitoneal CT does not preclude the need of lymph node dissection.

Purpose: To review our clinical experience with urinary continent catheterizable reservoir in children under five years of age. Materials and Methods: A total of 23 patients (16 males, 7 females) with a median age of 3.64 years were evaluated. Among these, 6 (26.08%) had a posterior urethral valve, 9 (39.13%) myelomeningocele, 4 (17.39%) bladder exstrophy, 2 (8.69%) genitourinary rabdomyosarcoma, 1 (4.34%) had spinal tumor and 1 (4.34%) an ano-rectal anomaly. Results: Perioperative complications were observed in four patients consisting of one febrile urinary tract infection, one partial operative wound dehiscence, one partial stomal dehiscence and one vesico-cutaneous fistula after a secondary exstrophy repair. The overall long-term complications rate was 40.90% and consisted of two stomal stenoses (9.09%), one neobladder mucosal extrusion (4.54%), three neobladder calculi (13.63%) and persistence of urinary incontinence in three patients (13.63%). The overall surgical revision was 36.36% and final continence rate was 95.45% with mean follow-up of 39.95 months Conclusion: Continent urinary diversion is technically feasible even in small children, with acceptable rates of complications.