Biomaterial Database

Constrictive pericarditis simulating intestinal lymphangiectasia in a patient with the Noonan syndrome. 1993

T O'Sullivan, and M Hally, and C C Cronin, and M Bashyam, and T H Mitchell

Department of Medicine, Cork Regional Hospital, Wilton.

A case of constrictive pericarditis with marantic endocarditis in a patient with the Noonan syndrome is reported. Congenital heart defects are often diagnosed in the Noonan syndrome and are undoubtedly the most problematic of its pathologies. Our patient had surgery for pulmonic stenosis at age 10 and 16 years. Over a period of 1-2 years prior to death at age 23 years, he developed elevated jugular venous pressure, hypoproteinaemia, pedal oedema and pleural effusions. The hypoproteinaemia and resulting signs were initially attributed to intestinal lymphangiectasia. The latter, unlike constrictive pericarditis, has been reported in the Noonan syndrome. Post-mortem examination revealed constrictive pericarditis with a marantic endocarditis. There was no evidence of intestinal lymphangiectasia.

UI	MeSH Term	Description	Entries
D008201	Lymphangiectasis, Intestinal	Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by DIARRHEA; HYPOPROTEINEMIA; peripheral and/or abdominal EDEMA; and PROTEIN-LOSING ENTEROPATHIES.	Intestinal Lymphangiectasis,Lymphangiectasia, Intestinal,Intestinal Lymphangiectases,Lymphangiectases, Intestinal
D008297	Male		Males
D009634	Noonan Syndrome	A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.	Male Turner Syndrome,Turner Syndrome, Male,Familial Turner Syndrome,Female Pseudo-Turner Syndrome,Noonan Syndrome 1,Noonan-Ehmke Syndrome,Pseudo-Ullrich-Turner Syndrome,Turner Phenotype with Normal Karyotype,Turner's Phenotype, Karyotype Normal,Turner's Syndrome, Male,Turner-Like Syndrome,Ullrich-Noonan Syndrome,Female Pseudo Turner Syndrome,Male Turner's Syndrome,Noonan Ehmke Syndrome,Pseudo Ullrich Turner Syndrome,Pseudo-Turner Syndrome, Female,Turner Like Syndrome,Turner Syndrome, Familial,Ullrich Noonan Syndrome
D010494	Pericarditis, Constrictive	Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS.	Constrictive Pericarditis,Pick's Disease of Heart,Pick Disease of Heart,Constrictive Pericarditides,Heart Pick's Disease,Pericarditides, Constrictive,Pick Disease, Heart,Picks Disease, Heart
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults