Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042961 (volvulus)
 4,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 39-year-old Japanese man with a splenic hamartoma who underwent surgery, is reported herein. The patient had a volvulus of the transverse colon and acute Type A hepatitis. His symptoms included fever, abdominal pain and icterus and the serum chemistry showed liver dysfunction and an elevation of hepatitis A antibody levels. Barium enema revealed a volvulus of the transverse colon. Ultrasonogram showed a hypoechoic mass and angiogram showed evidence of stretching of the intrasplenic vessels in the arterial phase and a hypovascular mass lesion in the venous phase. Macroscopically, the tumor was a well-defined, whitish-yellow, hard nodule. Microscopically, the tumor was composed of fibrous scar tissue containing scattered red pulp tissues and the histologic diagnosis was a splenic hamartoma of the fibrous type. The patient's postoperative recovery was uneventful. The clinical features of splenic hamartoma are reviewed in this report and the differential diagnosis is also discussed.
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PMID:Splenic hamartoma: report of a case and review of the literature. 267 8

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor.
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PMID:Perlman syndrome: four additional cases and review. 1050 86