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

This work aimed at reporting a case of Turner's syndrome with portal vein thrombosis and elevated levels of factor VIII and von Willebrand factor. A 14-year-old Libyan girl was admitted for evaluation of infantilism and pallor; meanwhile, she was found to be of short stature, with webbing of the neck. Chromosomal studies showed monosomy pattern Turner's syndrome (45XO). Abdominal ultrasound displayed a hugely enlarged spleen. Computed tomography (CT) imaging of the abdomen revealed portal vein thrombosis and dilated venous collaterals in porta hepatis. Thrombophilia screening demonstrated elevated levels of factor VIII (207 IU dl(-1)) and von Willebrand factor (450 IU dl(-1)). It was concluded that this was a case report on the unusual finding of portal vein thrombosis in a patient with Turner's syndrome in whom high levels of factor VIII and von Willebrand factor were found. Detailed molecular epidemiological study is recommended to clarify this finding and its underlying factors.
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PMID:Portal vein thrombosis in a patient with Turner's syndrome: a case report. 2256 Aug 22

Hepatoportal sclerosis (HPS) is defined as sclerosis of portal areas in the absence of cirrhosis. There is little information about HPS in children in the literature. The aim of this study was to describe the clinical presentation, associated disorders, laboratory characteristics and outcome of children who were diagnosed as HPS. This study included 12 children diagnosed as HPS by the Pathology Department between 2005 and 2011. Data were collected from the gastroenterology clinic charts retrospectively, including demographics, presentation characteristics, laboratory data and recent status of patients. Twelve patients were enrolled (6 girls, 6 boys). The median age of patients was 13.5 yr. Median age at the time of biopsy was 11 yr. Four patients had splenomegaly, 3 had esophageal varices, one had hepatopulmonary syndrome and had been transplanted. Smooth muscle antibody was found positive in 4 patients, without autoimmune hepatitis findings in liver biopsy. One patient had celiac disease and another patient had positive celiac disease serology but pathology findings. Another patient had Turner's syndrome. Mean follow-up time was 39 months (3.3 yr) after biopsy. Hepatoportal sclerosis does not necessarily present with portal hypertension in children.
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PMID:Hepatoportal sclerosis in childhood: descriptive analysis of 12 patients. 2413 57