The hallmark clinical and laboratory features include high fever, hepatosplenomegaly, lymphadenopathy, pancytopenia, liver dysfunction, disseminated intravascular coagulation, hypofibrinogenemia, hyperferritinemia, and hypertriglyceridemia.
22.
The toxicity associated with galactose-1-phosphate uridylyltransferase deficiency is associated with symptoms of hepatosplenomegaly and mental retardation in addition to the cataracts caused by galactitol buildup.
23.
This is a rare ( less than 100 reported cases ) autosomal recessive disorder characterized by partial albinism, hepatosplenomegaly, pancytopenia, hepatitis, immunologic abnormalities, and lymphohistiocytosis.
24.
Vaquez described the disease in a 40-year-old male suffering from chronic cyanosis, distended veins, vertigo, dyspnea, hepatosplenomegaly, palpitations and marked erythrocytosis.
25.
Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises.
26.
Because glycosylation is known to be critical for numerous immune-related proteins, these patients likely present with additional abnormalities including neutropenia, hemolytic anemia, hepatosplenomegaly, and neutropenia.
27.
Hepatosplenomegaly can occur as the result of acute viral hepatitis, infectious mononucleosis, and histoplasmosis or it can be the sign of a serious and life-threatening lysosomal storage disease.
28.
Babies exposed, in utero, can have deformities, delays in development, or seizures along with many other problems such as rash, fever, hepatosplenomegaly, anemia, and jaundice.
29.
They may have unusual facial features that are often described as " coarse, " seizures, bone malformations, enlarged liver and spleen ( hepatosplenomegaly ), and an enlarged heart ( cardiomegaly ).
30.
Symptoms may begin early in life or in adulthood and mainly affect the liver, spleen, and bone . enlarged spleen ( together hepatosplenomegaly ) are common; the spleen can rupture and cause additional complications.
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