RESUMEN
BACKGROUND: Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2-year-old boy with WT and MUL and present a review of literature on WT in MUL. CASE: Our patient had associated cardiac problems of atrial septal defect, atrial flutter and an episode of sudden cardiac arrest. We managed him successfully with chemotherapy, surgery and multi-speciality care. He is alive and in remission at follow-up of 6 months. CONCLUSION: A total of 14 cases (including present case) of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient.
Asunto(s)
Neoplasias Renales , Enanismo Mulibrey , Tumor de Wilms , Niño , Preescolar , Humanos , Neoplasias Renales/diagnóstico , Neoplasias Renales/terapia , Masculino , Enanismo Mulibrey/complicaciones , Enanismo Mulibrey/genética , Enanismo Mulibrey/patología , Proteínas Nucleares/genética , Proteínas de Motivos Tripartitos , Ubiquitina-Proteína Ligasas , Tumor de Wilms/complicaciones , Tumor de Wilms/diagnóstico , Tumor de Wilms/terapiaRESUMEN
We present our experience with pediatric ABO-incompatible liver transplantation in India. Data of patients <18 years of age undergoing ABO-incompatible liver transplantation our hospital between January, 2011 and November, 2018 were analyzed. Plasmapheresis was done pre-transplant till antibody titer was <16 units. Rituximab/Intravenous immunoglobulin was used for immunosuppression, in addition to standard drugs (mycophenolate mofetil, steroids, and tacrolimus). Out of 203 patients that underwent liver transplant during this period, 8 underwent ABO-incompatible liver transplantation; 4 (3 boys) had blood group O+ve. Median (range) age was 28 (7-91) mo, PELD score was 24.5 (14-42), and pre-transplant antibody titer range was 1:32-1024. Number of plasmapheresis sessions required ranged from 1-6. Post-operatively two patients had rise in antibody titer >64 requiring plasmapheresis. All 8 patients survived without rejection/biliary issues. Mean (range) of post-transplant hospital stay was 19.1 (13-22) d and follow-up period was 38.1 (7.1-84.4) mo. Pediatric ABO-incompatible liver transplantation can be successfully performed using plasmapheresis with optimal immune-suppression and vigilant post-op monitoring.
Asunto(s)
Trasplante de Hígado , Sistema del Grupo Sanguíneo ABO , Incompatibilidad de Grupos Sanguíneos , Niño , Supervivencia de Injerto , Humanos , Inmunosupresores/uso terapéutico , Donadores Vivos , Masculino , Rituximab/uso terapéuticoRESUMEN
UNLABELLED: Craniopharyngioma is associated with a wide and interesting variety of sodium states both by itself and following surgical resection. These are often challenging to diagnose, especially given their dynamic nature during the perioperative course. We present the case of a boy with craniopharyngioma who had hyponatremia due to cerebral salt wasting preoperatively, developed diabetes insipidus (DI) intraoperatively and proceeded to develop hypernatremia with adipsic DI. CONCLUSION: Cerebral salt wasting is a rare presenting feature of craniopharyngioma. Postoperative DI can be associated with thirst abnormalities including adipsia due to hypothalamic damage; careful monitoring and a high index of suspicion are required for its detection. Adipsic DI is a difficult condition to manage; hence a conservative surgical approach is suggested.
