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)

Noonan syndrome affects approximately 1 in 1500 live births. Affected individuals may have characteristic phenotypic features some of which are shared with Turner syndrome, although in Noonan syndrome the karyotype is normal, unlike the 45X karyotype of Turner syndrome. Renal anomalies have been described in both syndromes and in Turner syndrome they are both common and frequently severe. The frequency and spectrum of renal anomalies in Noonan syndrome have not been well documented. Upper abdominal ultrasound was performed to establish the frequency of renal anomalies in Noonan syndrome. Forty-four individuals with Noonan syndrome, aged between 9 months and 38 years, were studied. Sixteen scans (36%) were normal and 28 (64%) were abnormal. Five patients (11%) had renal anomalies. Twenty-three patients (53%) had splenomegaly, 6 of these with associated hepatomegaly. One patient had a choledochal cyst and a midgut malrotation. The frequency of renal anomalies in Noonan syndrome is 11%, which is lower than that seen in Turner syndrome. However, splenomegaly with or without hepatomegaly occurs commonly. Choledochal cyst and solitary kidney, previously unreported in Noonan syndrome, are documented.
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PMID:Abdominal ultrasound in Noonan syndrome: a study of 44 patients. 841 65

Fibropolycystic liver disease encompasses a spectrum of related lesions of the liver and biliary tract that are caused by abnormal embryologic development of the ductal plates. These lesions (congenital hepatic fibrosis, biliary hamartomas, autosomal dominant polycystic disease, Caroli disease, choledochal cysts) can be clinically silent or can cause signs and symptoms such as cholangitis, portal hypertension, gastrointestinal bleeding, infections, and space-occupying masses. The different types of fibropolycystic liver disease demonstrate characteristic findings at computed tomography (CT) and magnetic resonance (MR) imaging. Patients with congenital hepatic fibrosis typically have imaging evidence of liver morphologic abnormalities, varices, splenomegaly, renal lesions, and other associated ductal plate abnormalities. Biliary hamartomas usually manifest as multiple cysts that are nearly uniform in size and measure up to 15 mm in diameter. Autosomal dominant polycystic disease typically manifests as an enlarged and diffusely cystic liver. In Caroli disease, cystic or fusiform dilatation of the intrahepatic ducts is seen, as well as the "central dot sign," which corresponds to a portal vein branch protruding into the lumen of a dilated bile duct. Choledochal cyst manifests as a fusiform or cystic dilatation of the extrahepatic bile duct. Awareness of these CT and MR imaging features is essential in detecting and differentiating between various fibropolycystic liver diseases and can assist in proper management.
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PMID:Fibropolycystic liver disease: CT and MR imaging findings. 1588 16

Choledochal cyst causes liver fibrosis, the extent of which varies with each case. Liver damage seldom progresses to cirrhosis, but when it does, it is generally irreversible. We report an infantile case of liver cirrhosis associated with choledochal cyst in which complete clinical resolution was achieved by surgery. Pancytopenia caused by splenomegaly, massive ascites, hypoalbuminemia, and coagulation abnormality that were observed during the early postoperative period had disappeared within 4 months after surgery. Needle liver biopsy performed at 1 year after surgery revealed marked improvement in liver fibrosis.
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PMID:Histopathologic improvement in biliary cirrhosis after definitive surgery for choledochal cyst. 2043 7

Choledochal cyst type II, is an extremely rare cause of portal hypertension, severe pancytopenia in an adult patient, and a complication of long-standing disease. We present an uncommon cause of portal hypertension in a young female patient secondary to an obstructive choledochal cyst type II provoking massive splenomegaly and severe pancytopenia. A high level of clinical suspicion is important due to its high mortality rate if it remains undiagnosed. To our knowledge there are few publications describing this rare type of choledochal cyst in a Hispanic adult.
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PMID:Secondary biliary cirrhosis due to a rare choledochal cyst type II complicated with portal hypertension and pancytopenia in a young female patient. 2315 93