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)

The observation of vacuolated lymphocytes in a coarsely featured two year old female with hepatosplenomegaly, mitral insufficiency, and mild psychomotor retardation led to the first diagnosed case of aspartylglucosaminuria in the United States. Although physical characteristics and bone roentgenograms were consistent with a mucopolysaccharide disorder, analysis of the urine showed no mucopolysaccharide elevation. The chromatographic, enzymatic, and ultrastructural studies confirming the diagnosis are presented.
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PMID:Aspartylglucosaminuria: unique biochemical and ultrastructural characteristics. 93 43

A 65 years man presented with fever, drenching sweats, progressive dyspnoea, backache and weight loss. On examination, he had wide pulse pressure, clubbing, retinal hemorrhages, aortic and mitral regurgitation, hepatosplenomegaly, lower spinal tenderness and bilateral basal crepitations. Transthoracic 2D-echocardiography showed a large vegetation on the aortic valve. Antibody titers for brucella were positive. X-ray spine was suggestive of brucella spondylitis. Early surgical intervention was planned and the patient was given combination antibiotic therapy. The course was complicated by renal failure and the patient succumbed while being taken up for surgery.
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PMID:A fatal case of systemic brucellosis. 1199 46

A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.
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PMID:Sly Disease: Mucopolysaccharidosis Type VII. 1894 60

Endomyocardial fibrosis (EMF) is a tropical cardiomyopathy reported in many tropical countries. Patients were seen at the Children's Hospital-Khartoum, Sudan during September 2007-08 where cardiac evaluation was done. Six patients were identified (18% of all children with cardiomyopathy); all were males aged 8-17 years. All patients presented with abdominal distention, stunted growth, raised jugular venous pressure, ascites and hepatosplenomegaly. Electrocardiogram abnormalities included atrial fibrillation, first and third degree AV block and tall P wave. Echocardiography revealed huge right atrium dilatation and right ventricle apex obliteration by fibrous tissue. One patient had left-side affection with moderate mitral regurgitation. Eosinophilia was present in three patients. Two patients received antituberculosis drugs with no improvement, two had history of treated bilharziasis and two had been labeled as having Ebstein disease. EMF is an important cause of cardiomyopathy in Sudan that is often misdiagnosed. Clinical and echocardiographic examinations can lead to the correct diagnosis.
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PMID:Endomyocardial fibrosis: an under-diagnosed cause of cardiomyopathy in Sudanese children. 1926 61

A 24-year-old man presented with New York Heart Association (NYHA) grade 3 dyspnoea. He appeared dwarf-like with coarse facial features. General examination revealed cubitus valgus, claw hand, genu valgus, hallus valgus and equinovarus deformity of the foot. Systemic examination revealed cardiomegaly, a pansystolic mitral regurgitation (MR) murmur, hepatosplenomegaly and a normal IQ. Examination suggested multisystem disease involving the dermatological, musculoskeletal, cardiac and gastrointestinal system. Echocardiography showed thickened mitral and aortic valves, and moderate MR. We considered this as a storage disorder, particularly the mucopolysaccharidosis, because of its typical cardiac involvement. Further evaluation confirmed the diagnosis of Hunter syndrome. The patient was considered for enzyme replacement therapy, following which he improved. This rare disease must be considered whenever a physician encounters a young patient with multisystem involvement. In view of the availability of disease-specific therapy, an early diagnosis and prompt treatment with a multidisciplinary approach can improve the quality of life of these patients.
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PMID:Hunter syndrome with its typical heart: a close mimic to rheumatic heart. 2693 82