RESUMO
Niemann-Pick disease (NPD) is a heterogeneous group of lysosomal storage disorders with autosomal recessive inheritance pattern. There are 4 types of NPD. Patients with NPD type B generally have better prognosis, allowing them to survive into adulthood. They have a widespread clinical presentation, affecting multiple organs but rarely neurological involvement. Here, we describe the case of a 38-year-old woman with unexplained hepatosplenomegaly and young hypertensive intracranial bleed. Evaluation for young hypertension further revealed a nonfunctional bilateral adrenal mass and gross hepatosplenomegaly. NPD was confirmed through dried blood spot investigation. It showed low activity of acid sphingomyelinase and genetic testing also detected 2 pathogenic mutations. She is being managed by a multidisciplinary team for supportive treatment that includes regular symptoms monitoring and genetic counseling.
RESUMO
El carcinoma suprarrenal es una enfermedad muy poco frecuente de presentación clínica poco específica, donde los síntomas por la propia neoplasia son los predominantes. El objetivo de esta publicación es presentar un caso clínico jerarquizando los estudios de imagen para el diagnóstico y la planificación de la táctica para la cirugía.
Adrenal carcinoma is a very rare disease with nonspecific clinical presentation, where symptoms from the neoplasia itself are predominant. The aim of this publication is to present an uncommon clinical case, emphasizing the role of imaging studies in diagnosis and surgical strategy planning.
O carcinoma adrenal é uma doença muito rara, com apresentação clínica inespecífica onde predominam os sintomas decorrentes da própria neoplasia. O objetivo desta publicação é apresentar um caso clínico infrequente priorizando exames de imagem para diagnóstico e planejamento de táticas cirúrgicas.
Assuntos
Carcinoma , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagemRESUMO
Introducción: los mielolipomas suprarrenales (ML) son neoplasias benignas poco frecuentes constituidas por tejido adiposo y mieloide. Clínicamente asintomáticas, suelen ser diagnosticados incidentalmente. En México existen solo 32 casos publicados de ML, presentándose en pacientes de entre 37 a 65 años, siendo la relación hombre-mujer 1:1.1, el síntoma más comúnmente reportado es dolor abdominal inespecífico, y la cirugía abierta es el principal abordaje quirúrgico empleado en nuestro país (89%). Caso clínico: presentamos una recopilación de la literatura actual sobre ML en México, además de dos casos clínicos de pacientes con ML: un hombre de 67 años con enfermedad diverticular y una mujer de 40 años con dolor en hipocondrio; en ambos se realizó resección tumoral, midiendo 9.5 cm y 13.3 cm, respectivamente. Conclusiones: presentamos dos casos nuevos en nuestro país que corresponden a incidentalomas. En ambos casos la cirugía se realizó para confirmar el diagnóstico, así como para prevenir posibles complicaciones.
Background: Adrenal myelolipomas (ML) are rare benign neoplasms compound of adipose and myeloid tissue. Clinically they are usually asymptomatic, being diagnosed generally by incident. In Mexico, there are only 32 published cases of ML, these occur between 37 and 65 years, with the male-female ratio being 1:1.1, clinically they present with abdominal or lumbar pain, open surgery being the main surgical approach (89%). Clinical case: We made a literature review of ML in Mexico and present two clinical cases: a 67-year-old man in followup for diverticular disease and a 40-year-old woman with pain in the left upper quadrant. In both cases, tumor resection was performed measuring 9.5 cm and 13.3 cm long respectively. Conclusions: We present two new cases in our country that correspond to incidentalomas. In both cases, surgery was performed to confirm the diagnosis, as well as to prevent possible complications
