Inguinal lymph nodes agenesia in a patient with Schimmelpenning-Feuerstein-Mims syndrome with proven somatic KRAS mutation.

Schimmelpenning-Feuerstein-Mims (SFM) syndrome is a neurocutaneous disorder that can affect many body systems. The principal and most characteristic anomalies are craniofacial naevus sebaceous in association with neurological, ocular and skeletal findings. The presence of vascular malformations in this condition is unusual; nevertheless, vascular malformations have been suggested by many authors to be part of the spectrum of the same disease. Few cases have been published on the association of SFM with lymphatic malformations. This syndrome is categorized as a mosaic RASopathy due to postzygotic mutations in the HRAS, KRAS or NRAS genes. These genes are involved in the RAF-MEK-ERK signalling pathway, which is activated by mutant cells, increasing cellular proliferation. These mutations have been found only in naevus sebaceous cells, and may be also the explanation for many of the associated pathologies. We report a case of an 18-year-old boy diagnosed with SFM syndrome associated with lymphatic malformation in the legs and agenesia of the inguinal lymph nodes. The lymphatic alterations were diagnosed by gammography of the legs. The genetic diagnosis was confirmed by the presence of a KRAS postzygotic mutation in naevus sebaceous cells of a skin specimen. Genetically confirmed cases of mosaic RASopathies should be used to more accurately characterize phenotypic presentations of this syndrome and develop a future therapeutic strategy, such as molecular targeted therapy.

[Parent controled analgesia system in postoperative pain management in patients undergoing lip and cleft palate surgery]. / Analgesia mediante bomba de infusión continua controlada por el paciente para el manejo postoperatorio del dolor en pacientes intervenidos de fisura palatina y labio fisurado.

OBJECTIVES: Craniofacial clefts surgery associates a painful postoperative pain whose management is complicated with conventional analgesia. PATIENTS AND METHODS: A parent controlled analgesia system was implanted with a continuous perfusion of tramadol, ondansetron and metamizole adjusted by weight. Parents are allowed to administer additional boluses if they observe irritability. We compared the variables of the cleft patients operated before and after the implantation of the system in our center. RESULTS: During 2016, 16 craniofacial clefts were operated (4 cheilorhinoplasties and 12 palatal clefts). No PCA (parent controlled analgesia) system was used. The average time of stay in PICU was 1.5 days. It took an average of 2.5 days to initiate tolerance. The mean of VAS (Visual Analogic Scale) was 3. 53% required major opioids (morphine, fentanyl) not being sufficient analgesia every 3 hours. During 2017, 7 palatal fissures and 4 cheilorhinoplasties were operated (11). Both of them were controlled by PCA. Patients with palatal cleft were admitted to the PICU with a total mean of 0.5 days. The beginning of tolerance was advanced to the first postoperative day. The VAS diminished to 0.5. Only one patient required opioids. 72% did not need to associate any type of analgesia. CONCLUSIONS: The PCA system is a safe and risk-free insurance for analgesia of fissured patients with benefits such as: decrease in pain, stay in PICU, the need for analgesia and initiation of early tolerance.

OBJETIVOS: La cirugía de las fisuras craneofaciales asocia un intenso dolor postoperatorio cuyo manejo resulta complicado con la analgesia convencional. MATERIAL Y METODOS: Utilizamos una bomba de analgesia controlada por los padres que contiene una perfusión continua de tramadol, ondansetrón y metamizol ajustada por peso. Se permite a los padres administrar bolos adicionales si observan irritabilidad. Comparamos variables de los pacientes fisurados intervenidos antes y después de la implantación del sistema en nuestro centro. RESULTADOS: Durante 2016 fueron intervenidos 16 fisurados (4 queilorrinoplastias y 12 fisuras palatinas). En ninguno se empleó bomba de analgesia. El tiempo medio de estancia en UCIP fue 1,5 días. Tardaron de media 2,5 días en iniciar tolerancia. La media de EVA (Escala Analógica Visual) fue de 3. El 53% precisaron opiáceos mayores (morfina, fentanilo), no siendo suficiente la analgesia c/3 horas. Durante 2017 se operaron 7 fisuras palatinas y 4 queilorrinoplastias (11). En todos empleamos bomba. Únicamente ingresaron en UCIP las fisuras palatinas (debido al manejo de la vía aérea) con una media total de 0,5 días. Se adelantó el inicio de tolerancia al primer día postoperatorio. La EVA disminuyo a 0,5. Solo un paciente precisó opiáceos. El 72% no precisó asociar ningún tipo de analgesia. CONCLUSIONES: La bomba de PCA (analgesia controlada por el paciente/por los padres) es un método seguro y exento de riesgo para la analgesia de los pacientes fisurados con beneficios como: disminución del dolor, de la estancia en UCIP, de la necesidad de analgesia e inicio de tolerancia precoz.

Analgesia mediante bomba de infusión continua controlada por el paciente para el manejo postoperatorio del dolor en pacientes intervenidos de fisura palatina y labio fisurado / Parent controled analgesia system in postoperative pain management in patients undergoing lip and cleft palate surgery

Objetivos: La cirugía de las fisuras craneofaciales asocia un intenso dolor postoperatorio cuyo manejo resulta complicado con la analgesia convencional. Material y métodos: Utilizamos una bomba de analgesia controlada por los padres que contiene una perfusión continua de tramadol, ondansetrón y metamizol ajustada por peso. Se permite a los padres administrar bolos adicionales si observan irritabilidad. Comparamos variables de los pacientes fisurados intervenidos antes y después de la implantación del sistema en nuestro centro. Resultados: Durante 2016 fueron intervenidos 16 fisurados (4 queilorrinoplastias y 12 fisuras palatinas). En ninguno se empleó bomba de analgesia. El tiempo medio de estancia en UCIP fue 1,5 días. Tardaron de media 2,5 días en iniciar tolerancia. La media de EVA (Escala Analógica Visual) fue de 3. El 53% precisaron opiáceos mayores (morfina, fentanilo), no siendo suficiente la analgesia c/3 horas. Durante 2017 se operaron 7 fisuras palatinas y 4 queilorrinoplastias (11). En todos empleamos bomba. Únicamente ingresaron en UCIP las fisuras palatinas (debido al manejo de la vía aérea) con una media total de 0,5 días. Se adelantó el inicio de tolerancia al primer día postoperatorio. La EVA disminuyo a 0,5. Solo un paciente precisó opiáceos. El 72% no precisó asociar ningún tipo de analgesia. Conclusiones: La bomba de PCA (analgesia controlada por el paciente/por los padres) es un método seguro y exento de riesgo para la analgesia de los pacientes fisurados con beneficios como: disminución del dolor, de la estancia en UCIP, de la necesidad de analgesia e inicio de tolerancia precoz

Objectives: Craniofacial clefts surgery associates a painful postoperative pain whose management is complicated with conventional analgesia. Material and methods: A parent controlled analgesia system was implanted with a continuous perfusion of tramadol, ondansetron and metamizole adjusted by weight. Parents are allowed to administer additional boluses if they observe irritability. We compared the variables of the cleft patients operated before and after the implantation of the system in our center. Results: During 2016, 16 craniofacial clefts were operated (4 cheilorhinoplasties and 12 palatal clefts). No PCA (parent controlled analgesia) system was used. The average time of stay in PICU was 1.5 days. It took an average of 2.5 days to initiate tolerance. The mean of VAS (Visual Analogic Scale) was 3. 53% required major opioids (morphine, fentanyl) not being sufficient analgesia every 3 hours. During 2017, 7 palatal fissures and 4 cheilorhinoplasties were operated (11). Both of them were controlled by PCA. Patients with palatal cleft were admitted to the PICU with a total mean of 0.5 days. The beginning of tolerance was advanced to the first postoperative day. The VAS diminished to 0.5. Only one patient required opioids. 72% did not need to associate any type of analgesia. Conclusions: The PCA system is a safe and risk-free insurance for analgesia of fissured patients with benefits such as: decrease in pain, stay in PICU, the need for analgesia and initiation of early tolerance