Document Detail


Noonan's syndrome associated with cerebral hemorrhage. Report of a case
MedLine Citation:
PMID:  11688353     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The prevalence of Noonan syndrome has been estimated at between 1 out of 1000 and 1 out of 2500 live births; it is often confused with Turner syndrome because the two conditions display a common phenotype. Even if Noonan syndrome is typically associated with congenital heart diseases, prognosis is generally good. We describe the case of a female patient, deaf from infancy, in whom the presence of obstructive cardiomyopathy had been previously demonstrated angiographically at 29 years of age. A diagnosis of Turner syndrome had been made on the basis of her physical features. One year later she began to complain of accessional headache with nausea; seizures occurred at 48 years of age. The patient suddenly died during a hospital stay for investigation of these symptoms. Autopsy evidenced multiple cerebral hemorrhages due to vascular anomalies. She had normal female genitalia. This case demonstrates that Noonan syndrome is still misdiagnosed, and that it may have various clinical symptoms. In particular, it underscores the opportunity of carrying out systematic research on cerebrovascular abnormalities in these patients because they are potentially fatal.
Authors:
C Pandolfi; T Rosatelli; A Tarocchi; C Bianchi; D Dugnani
Publication Detail:
Type:  Case Reports; English Abstract; Journal Article    
Journal Detail:
Title:  Annali italiani di medicina interna : organo ufficiale della Società italiana di medicina interna     Volume:  16     ISSN:  0393-9340     ISO Abbreviation:  Ann. Ital. Med. Int.     Publication Date:    2001 Jan-Mar
Date Detail:
Created Date:  2001-11-01     Completed Date:  2002-06-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8806705     Medline TA:  Ann Ital Med Int     Country:  Italy    
Other Details:
Languages:  ita     Pagination:  54-8     Citation Subset:  IM    
Affiliation:
Divisione di Medicina II, U.O. di Vizzolo Predabissi, Azienda Ospedaliera di Melegnano, MI.
Vernacular Title:
Sindrome di Noonan associata ad emorragia cerebrale. Descrizione di un caso.
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MeSH Terms
Descriptor/Qualifier:
Cerebral Hemorrhage / complications*
Female
Humans
Middle Aged
Noonan Syndrome / complications*

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