Document Detail

Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk.
MedLine Citation:
PMID:  15912478     Owner:  NLM     Status:  MEDLINE    
Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare autosomal recessive genetic disease with a poor prognosis. We report a case of EB-PA in a non-consanguineous couple with a non-contributory family history. The primigravid woman was referred to us because of polyhydramnios associated with fetal gastric dilatation at 33 weeks of gestation. Maternal serum alpha-fetoprotein (AFP) had been elevated at 15 weeks' gestation (3.08 multiples of the median), and ultrasound examination showed polyhydramnios with echogenic amniotic fluid, gastric dilatation, and no other associated malformation. The fetal karyotype was normal female (46,XX). Acetylcholinesterase (ACHe) and AFP levels in the amniotic fluid were normal. Labor occurred spontaneously at 35 weeks' gestation. Clinical examination of the newborn showed large areas of cutaneous blisters and erosions, as well as pyloric atresia. Immunofluorescence analysis of skin samples confirmed EB-PA. Molecular analysis showed a new mutation of the integrin beta-4 gene: heterozygote missense deletions (3807delC/310delC, respectively, exons 31 and 5). The child died from severe sepsis at the age of 13 days. Our observation emphasizes the difficulty of interpreting prenatal ultrasound findings when there is no suggestive context.
B De Jenlis Sicot; P Deruelle; N Kacet; C Vaillant; D Subtil
Related Documents :
3148908 - Preliminary evaluation of the impact of the chernobyl radiological contamination on the...
95198 - Heterogeneity, immunological comparison and concentration profiles of alpha-fetoprotein...
2938458 - Limb-body wall complex: in utero sonographic diagnosis of a complicated fetal malformat...
8501898 - Levels of alpha2 pregnancy-associated glycoprotein in maternal circulation during pregn...
17456288 - Why do heterosexual young adults who use reliable contraception also use condoms? resul...
1419458 - Life-threatening acute respiratory distress in late pregnancy.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  25     ISSN:  0960-7692     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2005 Jun 
Date Detail:
Created Date:  2005-06-09     Completed Date:  2005-10-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  England    
Other Details:
Languages:  eng     Pagination:  607-9     Citation Subset:  IM    
Copyright Information:
Copyright 2005 ISUOG
Clinic of Gynecology and Obstetrics, Hôpital Jeanne de Flandre, Centre Hospitalier régional et universitaire de Lille, Lille, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Epidermolysis Bullosa / ultrasonography*
Fatal Outcome
Fetal Diseases / ultrasonography*
Fetus / abnormalities*
Polyhydramnios / ultrasonography
Pylorus / abnormalities*,  ultrasonography
Risk Factors
Sepsis / etiology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Prenatal sonographic findings in Peters-plus syndrome.
Next Document:  Screening for Down syndrome based on maternal age or fetal nuchal translucency: a randomized control...