Ernesto Pais

Agenesis of the Scrotum

Abstract: Congenital agenesis of the scrotum skin is an extremely rare disorder with only two cases previously reported. We report a newborn with scrotal agenesis and congenital hypothyroidism.

Predictive value of clinical factors for successful endoscopic correction of primary vesicoureteral reflux grades III–IV

OBJECTIVE To evaluate the clinical factors that influence the outcome of endoscopically treated primary grade III and IV vesicoureteral reflux (VUR). MATERIALS AND METHODS Excluding secondary VUR and patients with incomplete follow up, a retrospective and prospective cohort observational study was performed on 90 children (130 renal units) with primary grade III or IV reflux treated endoscopically with Polytef or Macroplastique from March 1997 to January 2004. All patients underwent voiding cystourethrography (or galactose-based sonocystourethrography), dimercaptosuccinic acid (DMSA) scan, renal ultrasound and clinical exploration of micturition. Data were collected on age, gender, urinary tract infection (UTI), bilaterality, renal scarring, voiding dysfunction, and success rate. A new factor was defined, ureteral dilatation of the renal unit (not related to grade according to findings of pelvi-calyceal images), and graded by a single pediatric urologist blinded to its International Classification grade. RESULTS The male-to-female ratio of patients was 2.91. Reflux was bilateral in 44.4%. There was UTI at presentation in 64 cases, and 21 newborns had been prenatally diagnosed (ratio M/F 5.2:1). We found a strong relation between the incidence of renal scarring at presentation and voiding dysfunction (P<0.01). Cure rate at first injection was 64%. While univariate analysis appeared to show a strong association between resolution at first injection and bilaterality, voiding dysfunction, nephropathy and ureteral dilatation grade, with simultaneous logistic regression, the only statistically significant predictor was the presence of high-grade dilatation vs low ureteral dilatation (P<0.001; OR 0.045; 95% CI 0.01-0.16). Progression of renal damage was noted especially in patients with voiding dysfunction (P=0.053), bilaterality (P=0.034), and severe ureteral dilatation (P<0.001). CONCLUSIONS The relationship between success rate of endoscopic treatment and grade of ureteral dilatation is demonstrated. Other factors significantly involved in the resolution of VUR are voiding dysfunctional syndrome, bilateralism of reflux, and scarring on initial DMSA. Gender, age, number of infections during follow up and prenatal diagnosis do not influence the outcome of endoscopic treatment.

Kaposiform Hemangioendothelioma Associated With Milroy's Disease (Primary Hereditary Lymphedema)

Kaposiform infantile hemangioendothelioma (KHE) is a rare recently characterized, locally aggressive, endothelial-derived neoplasm that occurs exclusively in the pediatric age group. Milroy-Nonne disease (primary hereditary lymphedema) is an uncommon congenital entity with familiar history of lower limb edema as typical clinical features. An 8-year-old boy developed a hard painless mass in the right leg 7 years after the diagnosis of congenital primary lymphedema of the right lower extremity. Histopathological analysis of the tumor showed the typical findings of the KHE. To our knowledge this is the first reported case of a KHE engrafting on this infrequent benign lymphatic anomaly.

Prenatal diagnosis of fetal bowel obstruction complicated by in utero acute intestinal perforation.

A 33 year old primigravid woman attended the Fetal Unit of our hospital at 21 weeks of gestation for prenatal examination. An ultrasound scan showed a single anechoic cystic mass measuring 3 cm in diameter (3 3 cm) in the abdomen of the fetus, with no dilatation of other parts of the intestine. At 25 weeks, an ultrasound scan showed distended bowel loops with decrease in size of the fluidfilled lesion seen on the first scan. At 32 weeks of gestation, the cystic mass could not be seen but the bowel distension had increased. Magnetic resonance imaging showed dilated fluid-filled intestinal loops (Fig. 1) and the site of intestinal atresia. The colon and the small intestine beyond the atresia were normal. At 35 weeks of gestation, an ultrasound scan showed a decrease in size of the dilated loops, moderate fetal ascites, absence of peristalsis and echogenic material outside the bowel. All these findings suggested intrauterine intestinal perforation. An elective caesarean section was performed at 35 weeks of gestation. A baby boy was born weighing 2800 g. He had abdominal distension and moderate scrotal swelling. The infant underwent a transverse laparotomy immediately after delivery. An ileal perforation was seen proximal to an atretic segment of bowel (ileal atresia type II) (Fig. 2). Meconium peritonitis was confirmed. The bowel walls showed mild inflammation without ischaemic changes consistent with a recent intestinal perforation. A primary ileostomy was performed with resection of 5 cm of distended ileum. His post-operative course was uneventful and intestinal continuity was restored by end-to-end anastomosis 14 days after the first surgical procedure. The baby started oral feeds seven days after the second operation. During this period, he received total parenteral nutrition. The boy is now 15 months old and has no problems.

Triorquidismo como diagnóstico diferencial de las masas escrotales

Varón de 11 años, sin antecedentes de interés. Presenta una masa escrotal izquierda de 3 meses de evolución. Exploración física: teste izquierdo normal, con una estructura de 1,5 cm sobre este, independiente, móvil, no dolorosa. El resto del examen físico fue normal. Se estableció el diagnóstico diferencial de masa tumoral paratesticular con potencial maligno, versus enfermedad benigna (hidrocele, quiste de epidídimo, teste supernumerario). La analítica con marcadores tumorales (alfa-feto-proteína, HCG y LDH) no mostró alteraciones. La ecografía testicular demostró 2 estructuras redondeadas, bien definidas, de tamaño, morfología y patrón doppler similar (fig. 1). Una radiografía simple de tórax descartó lesiones pulmonares metastásicas. La ausencia de captación en la gammagrafía con tecnecio 99 descartó la presencia de una fusión esplenogonadal. Finalmente se realizó exploración quirúrgica por vía inguinal que demostró 2 testículos a nivel escrotal izquierdo (fig. 2). Se decidió la exéresis del teste supernumerario, ante la ausencia de potencial reproductivo, y la posibilidad de degeneración maligna. La anatomía patológica mostró una estructura testicular conservada.

Reflujo vesicoureteral grados III-IV: factores implicados en la efectividad del tratamiento endoscópico en pacientes pediátricos

Resumen es: Objetivo: El Reflujo Vesicoureteral (RVU) es una de las anomalias congenitas urologicas mas frecuentes y se detecta hasta en el 30-50% de los pacientes p...