Document Detail

Necrotizing enterocolitis in a premature infant as the presenting symptom of familial dysautonomia in the neonatal period: case report and review of the literature.
MedLine Citation:
PMID:  16215920     Owner:  NLM     Status:  MEDLINE    
We present a case of a premature infant with early-onset necrotizing enterocolitis as the presenting symptom of familial dysautonomia. The diagnosis of familial dysautonomia in the neonatal period is usually rare and difficult, because many of the symptoms may be mild or nonspecific, whereas other characteristic signs and symptoms appear only later in life. The neonatologist should be aware of this rare diagnosis in the neonatal period, especially in the offspring of Ashkenazi Jews. The diagnosis is genetic. Preconception counseling to future parents belonging to populations at risk should include recommendation for genetic screening test to identify carriers of the mutations in the familial dysautonomia gene.
Shay Barak; Arieh Riskin; Amir Kugelman; Martha Abend-Weinger; Irena Chistyakov; David Bader
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of perinatology     Volume:  22     ISSN:  0735-1631     ISO Abbreviation:  Am J Perinatol     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2005-10-10     Completed Date:  2006-01-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8405212     Medline TA:  Am J Perinatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  353-5     Citation Subset:  IM    
Department of Neonatology, Bnai Zion Medical Center, The B. Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
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MeSH Terms
Dysautonomia, Familial / complications,  diagnosis*
Enterocolitis, Necrotizing / complications*
Infant, Newborn
Infant, Premature
Infant, Premature, Diseases / diagnosis*

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