Osteopetrosis con afectación de cuatro nervios craneales / Osteopetrosis with damage of four cranial nerves

Introducción: la osteopetrosis se caracteriza por una insuficiente resorción ósea, como consecuencia de un trastorno de la actividad de los osteoclastos, y provoca aumento de la densidad ósea, es decir, un hueso altamente calcificado, pero muy frágil; hay fracaso del potencial de la médula ósea, desencadenando la hematopoyesis secundaria, con manifestaciones de visceromegalia y pancitopenia. El engrosamiento de los huesos provoca estrechamiento de los forámenes del cráneo, por donde emergen los nervios craneales, se comprimen y provoca manifestaciones clínicas secundariamente. Presentación del caso: paciente femenina que a los 3 años de edad manifestó nistagmus horizontal, paresia de nervio motor ocular externo derecho, pérdida de respuesta al estímulo auditivo bilateral, parálisis facial periférica izquierda y atrofia bilateral del nervio óptico; radiológicamente mostró aumento de la densidad ósea, con importante engrosamiento de la base de cráneo y huesos largos. Conclusiones: el diagnóstico de la osteopetrosis es sencillo y depende principalmente de los estudios radiológicos, pero pasa inadvertido por su baja frecuencia y falta de sospecha clínica. El diagnóstico temprano del compromiso de múltiples nervios craneales, la atención multidisciplinaria y su tratamiento oportuno, contribuye a su mejor evolución(AU)

Introduction: osteopetrosis is characterized by insufficient bone resorption as a consequence of a disorder in the osteoclast activity and brings about increased bone density, that is, a highly calcified bone but very fragile. There is failed potential of the bone marrow, thus unleashing secondary hematopoiesis with visceromegalia and pancitopenia manifestations. The bone thickening provokes narrowing in cranium foramens where the cranial nerves pass, they compressed and cause secondary clinical manifestations. Case report: a female patient aged 3 years showed horizontal nistagmus, paresia in the right external ocular motor nerve, loss of response to bilateral hearing stimulus, peripheral facial palsy and bilateral atrophy of the optical nerve. The radiological tests showed increased bone density with significant thickening of the skull base and long bones. Conclusions: the diagnosis of osteopetrosis is simple and mainly depends on the radiological studies, but it is unnoticed because of its low frequency and the inexistent clinical suspicion. The early diagnosis of the damage of several cranial nerves, the multidisciplinary care and timely treatment may contribute to better evolution(AU)

[Laparoscopic removal of large spleens: Pfannenstiel incision as an alternative specimen extraction method]. / Laparoscopos technika alkalmazása nagyméretu lépek eltávolítására: Pfannenstiel-metszés mint alternatív specimeneltávolítási mód.

BACKGROUND: Removing the extremely enlarged spleen from the abdominal cavity is a common technical problem in case of laparoscopic splenectomy ( LS). In general, the specimen is placed into a plastic bag and removed after morcellation. In case of massive splenomegaly , when the spleen weight is 1000-2000 grams, this method is often not feasible, because the spleen size is larger than the maximum capacity of the EndoBag. According to the literature in this case the splenic extraction was performed by specimen fragmentation in the abdominal cavity (risk of splenosis) or by a laparotomy. To solve this problem our team removes the specimen via a Pfannenstiel incision since 2009. METHODS: Between January 1, 2002 and September 30, 2014, 74 LS procedures were performed at our department. The specimen was retrieved with morcellation in a conventional manner through the lateral port site in 56 cases, whereas in 12 cases, the large spleen was retrieved through a 10-12 cm long Pfannenstiel incision. RESULTS: The mean duration of surgery was 121 (50-220) minutes. In those cases where the specimen was retrieved through a Pfannenstiel incision the mean duration of surgery was significantly shorter (108 vs. 125 minutes; p=0.05), and the mean spleen size was significantly larger (1032 vs. 338 grams; p=0.0001) than in the case of morcellation. In the duration of the mean postoperative hospital stay there was no significant difference (4.7 vs. 5.2 days; p=0.178). CONCLUSION: Our study supports that laparoscopic splenectomy is safe and has numerous advantages even in the case of massive splenomegaly. The retrieval of the specimen through a Pfannenstiel incision is considered a safe and cosmetically acceptable alternative.

Diagnóstico não invasivo de varizes esofágicas através da relação contagem plaquetária/diâmetro do baço / Noninvasive diagnosis of esophageal varices using platelet count/spleen diameter ratio

Objetivos: aplicar um método não invasivo e de baixo custo, a relação contagem plaquetária/diâmetro do baço (relação P/B), no diagnóstico de varizes esofágicas em pacientes portadores de hepatopatia crônica. Verificar a validade e acurácia do método, comparando os resultados obtidos com trabalhos da literatura. Métodos: estudo transversal retrospectivo, realizado no Ambulatório de Gastroenterologia do Hospital São Lucas da PUCRS. Foram selecionados 40 pacientes com diagnóstico de cirrose que consultaram entre dezembro de 2007 e abril de 2008. Foram excluídos pacientes que já haviam sido submetidos a procedimento endoscópico, cirurgia para hipertensão porta ou uso de betabloqueadores. Os dados foram coletados por revisão de prontuários. Resultados: a maioria dos indivíduos estudados possuía uma contagem plaquetária abaixo do normal e baço de diâmetro elevado e, portanto, uma relação P/B baixa. A maioria deles (80%) possuía varizes esofágicas, sendo 17,5% de grau I, 45% de grau II e 17,5% de grau III. Na análise final não houve diferença na relação P/B entre os grupos com e sem varizes esofágicas (p=0,117) nem em relação aos diferentes graus de varizes esofágicas (p=0,417), embora houvesse uma tendência a que indivíduos com varizes esofágicas possuam relação P/B menor, sendo quanto menor a relação, maior o grau em que as varizes se apresentam. Com o ponto de corte encontrado de 582 (ponto de maior distância entre a curva obtida e a linha base), obteve-se uma acurácia de 62,5%, com sensibilidade de 59,4% e especificidade de 75%. A área sob a curva ROC não se mostrou diferente de 0,5 (p= 0,112). A acurácia foi menor do que a descrita na literatura. Conclusões: do ponto de vista prático, a relação P/B é fácil de ser calculada e financeiramente não acarreta custos adicionais no manejo dos pacientes cirróticos. Portanto, pode ser considerada de ajuda no diagnóstico não invasivo de varizes esofágicas...

Aims: To apply a noninvasive, low expensive method (platelet count/spleen diameter ratio - P/S) for the diagnosis of esophageal varices in patients with chronic hepatic disease, verifying the accuracy of this method when compared with previous studies. Methods: A retrospective, cross-sectional study was performed at Hospital São Lucas from PUCRS. Forty patients that had gastroenterological consultation during five months (from December/2007 to April/2008) were selected. Cirrhotic patients who had undergone endoscopic procedures for varices, surgery for portal hypertension, or β-blocker users were excluded. Information was collected by medical charts review. Results: Twenty subjects were males (67.5%) and the median age was 58 years old. Main causes of cirrhosis was alcohol and hepatitis C. The majority of the patients had platelets count below the normal and high splenic diameter, compatible with low P/S ratio. Accuracy was 62.5%, with sensitivity of 59.4% and specificity of 75%. Accuracy was lower than the results from previous studies. Conclusions: P/S ratio was easy to perform and to calculate, not increasing cost to patient management. Therefore, this method may be considered in the clinical approach as a noninvasive method for the diagnosis of esophageal varices. However, endoscopy is so far the method of choice for the diagnosis of esophageal varices in patients with cirrhosis.