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Late-presenting congenital diaphragmatic hernia
Yoshihiro Kitano1, Kevin P Lally, Pamela A Lally
1National Center for Child Health and Development, Tokyo Japan.
Insights
Late-presenting congenital diaphragmatic hernia (CDH) can manifest with respiratory or gastrointestinal symptoms. Early diagnosis and primary repair lead to excellent outcomes for this rare condition.
Area of Science:
- Pediatric Surgery
- Congenital Abnormalities
- Gastrointestinal Surgery
Background:
- Late-presenting congenital diaphragmatic hernia (CDH) is a rare condition with limited data.
- Existing information often comes from small case series.
Purpose of the Study:
- To document clinical manifestations of late-presenting CDH.
- Utilize a large, multicenter database for comprehensive data.
Main Methods:
- Retrospective review of 3098 cases from the CDH Study Group (1995-2004).
- Inclusion criteria: CDH diagnosed after 30 days of age.
- Analysis of clinical presentation, hernia location, associated anomalies, and outcomes.
Main Results:
- 79 cases (2.6%) met criteria, diagnosed between 32 days and 15 years.
- Common symptoms: respiratory (43%), gastrointestinal (33%).
- Left-sided hernias predominantly caused GI symptoms; right-sided hernias more often caused respiratory symptoms.
- 100% survival with primary repair, no patch needed.
Conclusions:
- Late-onset CDH presents with diverse symptoms, influenced by hernia laterality.
- Gastrointestinal symptoms common with left-sided hernias; respiratory symptoms with right-sided lesions.
- Prognosis is excellent with timely diagnosis and surgical intervention.
Background:
Late-presenting congenital diaphragmatic hernia (CDH) is a rare subset of CDH, most of the information derived from small series or case reports. The aim of this study was to document the clinical manifestations of late-presenting CDH using a large multicenter database.
Methods:
Information about late-presenting CDH (diagnosed at later than 30 days of age) was identified from the database of the CDH Study Group (3098 cases collected during 1995-2004) and reviewed retrospectively.
Results:
Seventy-nine cases (2.6%) from 30 centers met the inclusion criteria. Seven cases had a Morgagni hernia. There were 50 males (65%) and 27 females (35%). The mean age at diagnosis was 372 days (32 days to 15 years). Major associated anomalies (10 cardiac and 7 chromosomal abnormalities) were identified in 12 cases (15%). Presenting symptoms were respiratory in 20 (43%), gastrointestinal in 15 (33%), both in 6 (13%), and none (asymptomatic) in 5 (11%). The hernia was left-sided in 53 (69%), right-sided in 21 (27%), and central or bilateral in 3 (4%). Patients with gastrointestinal symptoms invariably had left-sided hernias (n = 19), whereas patients with respiratory symptoms (n = 24) seemed equally likely to have right- or left-sided lesions. A primary repair without patch was done in all cases with 100% survival.
Conclusions:
Presenting symptoms of late-onset CDH can be respiratory or gastrointestinal, but presentation with gastrointestinal problems was more common in left-sided hernias, whereas respiratory symptoms predominated in right-sided lesions. The prognosis is excellent once the correct diagnosis is made.
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