Disgenesia gonadal pura o Síndrome de Swyer. A propósito de un caso con degeneración tumoral: melanoma / Pure gonad dysgenesia or Swyer sindrome. A case report having tumoral development: melanoma

Se presenta una niña de 14 años de edad, con 10 días de evolución de dolor lumbar, polaquiuria y discreto dolor generalizado a la palpación abdominal. Tras diferentes estudios de laboratorio y de imagen se le halló una masa tumoral que abarcaba toda la gónada derecha con siembra metastática en hígado. Los marcadores tumorales fueron normales. En la exploración quirúrgica, en donde se resecó completamente el tumor primario, se observó además, infiltración peritoneal masiva, ovario izquierdo en estría y un útero de tipo infantil. El diagnóstico presuntivo de disgenesia gonadal pura se confirmó con el estudio cromosómico que reveló ser 46 XY. Los análisis de inmunomarcaje y microscópicos informaron de melanoma primario de la gó- nada resecada. Con dicho diagnóstico se inició una serie de quimioterapia para melanoma avanzado, no obteniéndose respuesta. Se le indicaron cuidados paliativos hasta su fallecimiento ocurrido dos meses después (AU)

A 14 year old girl having 10-days lumbar pain, polaquiuria and moderate pain to palpation is reported. Blood and urine analysis were normal. Abdominal ultrasound scan showed cavity free and solid, rounded, heterogeneous, intrapelvic mass compressing bladder and uterus. Magnetic resonance image was performed showing right gonad compromise with extensive liver and sacro-lumbar spine invasion. Tumoral markers were ruled out. During surgery, primary tumor mass localizad in the right gonad was completely excised. Melanotic peritoneal and hepatic disemination were observed. The patient had left (..) (AU)

[Pure gonad dysgenesia or Swyer sindrome. A case report having tumoral development: melanoma]. / Disgenesia gonadal pura o síndrome de Swyer. A propósito de un caso con degeneración tumoral: melanoma.

A 14 year old girl having 10-days lumbar pain, polaquiuria and moderate pain to palpation is reported. Blood and urine analysis were normal. Abdominal ultrasound scan showed cavity free and solid, rounded, heterogeneous, intrapelvic mass compressing bladder and uterus. Magnetic resonance image was performed showing right gonad compromise with extensive liver and sacro-lumbar spine invasion. Tumoral markers were ruled out. During surgery, primary tumor mass localizad in the right gonad was completely excised. Melanotic peritoneal and hepatic disemination were observed. The patient had left streak gonad and infantile uterus (2 x 3 cm). As gonad dysgenesia was suspected, high resolution cromosomic study was performed and resulted in cariotype 46 XY. Microscopy of the resected gonad showed primary gonad melanoma. Chemotherapy was instituted with no tumor response and the patient died two month later.

[Laparoscopic approach for treatement of gastroesophageal reflux in newborns and infants with severe respiratory disorders. When to indicate it?]. / Abordaje laparoscópico para el tratamiento del reflujo gastroesofágico en recién nacidos y lactantes con trastornos respiratorios graves. Cuándo indicarlo?

Gastroesophageal reflux (GER) is a common finding in the newborn period, which is in general well tolerated, and tends to resolve spontaneously at about 18 months of age. However, a small number of children will present important respiratory manifestations (aspiration and apneic episodes), or increase in the manifestations of pre existing conditions (tracheomalacia, laryngomalacia), which can produce life threatning events. Ph monitoring does not completely discard the possibility of GER and the use of prokinetic drugs, in association with other drugs to protect the esophagus do not prevent serious consecuences produced by reflux to the airway. In this report six children with severe airway disease and marked GER, with no response to initial medical treatment required laparoscopic fundoplication. They have all resolved their airway disease, and are currently well. The laparocopic technique for fundoplication of small children seems to be a secure, well tolerated and definitive treatment in the hands of trained surgeons.

Abordaje laparoscópico para el tratamiento del reflujo gastroesofágico en recién nacidos y lactantes con trastornos respiratorios graves. ¿Cuándo indicarlo? / Laparoscopic approach for treatement of gastroesophageal reflux in newborns and infants with severe respiratory disorders. When to indicate it?

El reflujo gastroesofágico (RGE) es una entidad de hallazgo frecuente en recién nacidos y lactantes pequeños. Por lo general es bien tolerado y constituye lo que se podría denominar una «anormalidad transitoria como parte del proceso de maduración» del recién nacido. Entre los 12 a 18 meses de edad muchos de ellos dejarán de presentarlo. Sin embargo existe un pequeño número de niños que desde el nacimiento presentan RGE importante con manifestaciones clínicas respiratorias graves (broncoaspiración, episodios de laringoespasmo) o deterioro de lesiones preexistentes (laringomalacia, traqueomalacia) que ponen en riesgo la vida. El estudio de pHmetría de 24 h no descarta la presencia de reflujo gastroesofágico y la utilización de drogas procinéticas, asociadas o no a otras que protegen al esófago, no evitan las consecuencias graves cuando el líquido refluido alcanza la vía respiratoria. Presentamos seis niños con patología respiratoria severa y diagnóstico de RGE grave que no respondieron al tratamiento médico inicial. Fueron abordados, entonces, quirúrgicamente con fundoplicatura gastroesofágica laparoscópica. Todos se encuentran actualmente libres de enfermedad. El abordaje laparoscópico en el recién nacido y lactante pequeño es, en manos entrenadas, seguro y con resultados definitivos, siendo bien tolerado y con escasa morbilidad (AU)

Gastroesophageal reflux (GER) is a common finding in the newborn period, which is in general well tolerated, and tends to resolve spontaneously at about 18 months of age. However, a small number of children will present important respiratory manifestations (aspiration and apneic episodes), or increase in the manifestations of pre existing conditions (tracheomalacia, laryngomalacia), which can produce life threatning events. Ph monitoring does not completely discard the possibility of GER and the use of prokinetic drugs, in association with other drugs to protect the esophagus do not prevent serious consecuences produced by reflux to the airway. In this report six children with severe airway disease and marked GER, with no response to initial medical treatment required laparoscopic fundoplication. They have all resolved their airway disease, and are currently well. The laparocopic technique for fundoplication of small children seems to be a secure, well tolerated and definitive treatment in the hands of trained surgeons (AU)