Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-year-old female presented with splenomegaly and hypersplenism manifestations, including anemia, thrombocytopenia, and abdominal pain/distention. All common metabolic, hematologic, gastrointestinal, and infectious etiologies for splenomegaly were excluded. Diagnosis of idiopathic splenic peliosis was made and splenectomy was recommended. History revealed that the patient's mother had acquired a nonspecific skin infection during a visit to the Middle East 2 years prior. Serum antibodies and confirmatory PCR testing for visceral leishmaniasis were positive. After treatment with liposomal amphotericin, at 6-month follow-up her hypersplenism manifestations had resolved and her splenomegaly had significantly decreased. Visceral leishmaniasis should be considered in cases of marked splenomegaly, anemia, and thrombocytopenia, especially with a history of visiting an endemic area.
ACG Case Rep J 2013 Oct
PMID:Visceral Leishmania as Unusual Cause of Splenic Peliosis in the United States. 2615 23

Osteopetrosis is a genetic disorder of bone remodeling caused by osteoclast dysfunction. Clinical features include short stature, frequent fractures, and recurrent infections. Abnormal bone obliterates the marrow cavity, resulting pancytopenia and extramedullary hematopoiesis in the liver and spleen. The splenomegaly can lead to left-sided portal hypertension. We report the second case of osteopetrosis-induced portal hypertension and the first case of upper gastrointestinal bleeding in a 52-year-old woman with osteopetrosis.
ACG Case Rep J 2014 Oct
PMID:Osteopetrosis: A New Cause of Upper Gastrointestinal Bleeding. 2615 3

Hepatic inflammatory pseudotumors or myofibroblastic tumors are benign neoplasms rarely seen in children. We report a case of a previously healthy 10-year-old girl with prolonged fever and abdominal pain who was found to have hepatosplenomegaly and pancytopenia. Imaging revealed a periportal mass along with thrombosis of portal vein and splenomegaly. Liver biopsy showed normal hepatic architecture with no evidence of cirrhosis. She underwent endoscopic banding of esophageal varices. Biopsy of the mass was suggestive of inflammatory myofibroblastic tumor without malignant changes. She has been successfully managed with nonsteroidal anti-inflammatory drug and pulse steroids with resolution of symptoms and decrease in size of the tumor with more than 2 years of follow-up.
ACG Case Rep J 2019 Mar
PMID:Pediatric Inflammatory Myofibroblastic Tumor of the Liver: A Rare Cause of Portal Hypertension. 3162 Apr 93