Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 13-year-old boy, known case renal stone disease came with the complaints of abdominal pain along with low grade fever. On examination, hepatosplenomegaly was noted while his lab reports showed a low hemoglobulin with a raised ESR. His blood and urine cultures showed no growth. Viral markers, autoimmune profile, C and p ANCA were all negative apart from a raised serum IgG level. Ultrasound abdomen showed a hyperechoic liver with an enlarged spleen along with splenic varices and minimum ascites. Ultrasound hepatic doppler was normal. Serum AFP levels were normal while workup for Wilson's disease was negative. Fibroscan showed F4 fibosis. CT scan abdomen showed an enlarged left lobe of the liver along with an enlarged spleen. His EGD revealed varices. So liver biopsy was done that was suggestive of chronic granulomatous disease with ZN stain testing negative for TB.PPD, urine for AFB were both negative. Serum ACE levels were raised. He started ATT therapy but his condition did not improve. So, on the suspicion of hepatic sarcoidosis, he started on steroids and had a drastic improvement in his condition.
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PMID:Hepatic Sarcodosis presenting as portal hypertension in a young boy. 2956 70

A 24-year-old male presents with diminution of vision in both eyes of acute onset with floaters. He has a history of fever of unknown origin. Examination revealed bilateral optic disc granulomas with mild vitritis. Serum angiotensin converting enzyme was found to be elevated and tuberculin skin test was negative. Computed tomography scan of the chest showed clear lung fields with no hilar lymphadenopathy but mildly enlarged pretracheal lymph nodes. Computed tomography scan of the abdomen revealed multiple enlarged abdominal lymph nodes with hepatosplenomegaly, and ultrasound-guided biopsy of one of these lymph nodes showed chronic granulomatous inflammation consistent with sarcoidosis. Immunosuppressive therapy resulted in resolution of ocular inflammation with no recurrence.
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PMID:Abdominal sarcoidosis presenting as bilateral simultaneous optic disc granulomas. 3131 32


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