Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Mais filtros

Base de dados
Tipo de estudo
Intervalo de ano de publicação
Cureus ; 13(11): e19246, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34877220


Niemann-Pick disease has an autosomal recessive inheritance pattern and occurs due to a deficiency of a lysosomal enzyme, sphingomyelinase. It causes variable clinical signs and symptoms such as hepatosplenomegaly, delayed milestones, and peripheral cytopenia due to bone marrow involvement. Here, we report a case of a child who presented with hepatosplenomegaly and pancytopenia, who was later found to have Niemann-Pick disease on bone marrow examination. This case highlights the case presentations of this rare disease and the importance of bone marrow trephine in prompt diagnosis and management of a patient.

Cureus ; 11(3): e4289, 2019 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-31183270


Obturator hernia is an extremely rare condition accounting for almost 0.07%-1% of all abdominal wall hernias, usually occurring in the elderly and emaciated females with a history of previous abdominal surgery. The symptoms of this particular hernia are non-specific; therefore, a high index of clinical suspicion should always be made. This rare condition may lead to acute small intestinal obstruction. The pre-operative diagnosis is challenging and often misleading on occasions, especially in co-morbid cases. This leads to delayed diagnosis and surgical intervention, hence causing an increased morbidity and mortality rate. The computed tomography (CT) scan of the abdomen and pelvis is the gold standard for diagnosis. We present a case of an 80-year-old female, with known comorbid of hypertension, initially diagnosed as peritonitis and on further examination revealed strangulated obturator hernia with proximal perforation, that underwent lower midline laparotomy with resection of necrotic bowel, an end-to-end anastomosis, and repair of the defect by vicryl suture.