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

A 52-year-old Japanese woman with the chief complaint of marked swelling of her upper eyelids and a mass over the bulbar conjunctiva is reported. She previously noticed frequent purpura after minimal trauma, which was resolved shortly after taking some ascorbic acid. Laboratory data showed Ig-G kappa type M-protein in the serum and kappa type Bence-Jones protein in the urine by immunoelectrophoresis. Systemic examination showed mild hepatosplenomegaly, 1st degree of AV block, and a mild increase in plasma cells in the bone marrow biopsy. Histologically, the whole dermis of the eyelid skin and conjunctiva was replaced by a large quantity of amorphous, eosinophilic substances, which were diffusely positive with Direct Fast Scarlet 4BS. Immunohistochemical staining was positive for anti-amyloid P component antibody. Typical amyloid fibrils were proved by electron microscopy. She was finally diagnosed as primary systemic amyloidosis with diffuse swollen eyelids and conjunctival mass, symptoms which in primary systemic amyloidosis are very rare.
 ...
PMID:Primary systemic amyloidosis: a unique case complaining of diffuse eyelid swelling and conjunctival involvement. 137 22

Neonatal lupus erythematosus is an uncommon transplacentally acquired autoimmune disorder. The most common clinical manifestations are skin rash, congenital atrioventricular block, thrombocytopenia, leukopenia, anemia, and hepatosplenomegaly. Usually, the skin rash resembles subacute cutaneous lupus, but different forms of rash have been reported in neonatal lupus erythematosus and some are rare forms. NLE should be suspected in babies with atypical skin lesions, even if present at birth.
 ...
PMID:Neonatal lupus erythematosus: an acquired autoimmune disorder and its cutaneous manifestations. 1866 51

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.
 ...
PMID:Endomyocardial fibrosis: an under-diagnosed cause of cardiomyopathy in Sudanese children. 1926 61