RESUMEN
Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with an autosomal dominant pattern of inheritance. This congenital disease is characterized by a wide spectrum of clinical manifestations and degree of severity. This case report describes a female patient in her early 20s who presented with a complaint of lumbosciatica-like pain evolving for several months. The condition initially escaped the attention of clinicians until a lumbar computed tomography scan and spinal magnetic resonance imaging were performed. The patient was then transferred to the general surgery department, where a clinical diagnosis of NF1 was established. The clinical manifestations were specific for this disease, including café-au-lait macules, plexiform neurofibroma, and a history of neurofibromatosis in her mother. The patient underwent surgical resection of the neurofibroma, which resulted in a favorable outcome. However, 2 years later, a new mass attached to the second lumbar spinal nerve was revealed by a follow-up computed tomography scan. Long-term and close follow-up of NF1 is required because of the high risk of malignancy and recurrence in NF1 patients.
Asunto(s)
Neurofibroma , Neurofibromatosis , Neurofibromatosis 1 , Humanos , Femenino , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico por imagen , Neurofibromatosis 1/genética , Manchas Café con Leche/diagnóstico , Manchas Café con Leche/patología , Neurofibroma/diagnóstico por imagen , Neurofibroma/genética , Neurofibroma/cirugía , Imagen por Resonancia MagnéticaRESUMEN
Celiacomesenteric trunk (CMT) refers to the common origin of celiac trunk and superior mesenteric artery which is a very rare anatomical variation. CMT is incidentally diagnosed during angiography or abdominal computed tomography scanning. The diagnosis of CMT may inform surgical practice and prevent damage during invasive radiologic procedures, lowering thus the rate of iatrogenic errors. Complete common mesentery is in its turn a rarer congenital anomaly that arises from an abnormal rotation of primitive small intestine during embryonic development. We report a case of a 48-year-old man, suffering from chronic abdominal pain, and postprandial discomfort. The patient underwent an abdominal contrast-enhanced computed tomography that detected a CMT associated with common complete mesentery. According to our review of bibliography, this is the first case report to simultaneously report both congenital anomalies (CMT and common complete mesentery). Furthermore, the CMT described here has not been described in previous classifications and represent a novel anatomical variation of CMT.
