Familial Isolated Duodenal Atresia (FIDA)

A Case Report of Type III Duodenal Atresia

Pratikkumar Patel MD, MPH PGY-2, Angela Flores MD, Maria Teresa Ambat, MD
Texas Tech University Health Science Center
Paul L.Foster School of Medicine at El Paso

Introduction Discussion
• Duodenal atresia is the congenital absence or complete • Duodenal atresia can take many forms, but proximal and
closure of a portion of the lumen of the duodenum. It distal intestinal segments always end blindly. The three
causes increased levels of amniotic fluid during types are described the figure and table below.
pregnancy (polyhydramnios) and intestinal obstruction in
Duodenal Atresia- Three Types
newborn babies. Radiography shows a distended
stomach and distended duodenum, which are separated
by the pyloric valve, a finding described as the "double-
bubble sign.“ No medical therapies are available for the
definitive treatment of duodenal atresia or stenosis; the
treatment is surgical correction.

• Its is one of the more common intestinal anomalies

treated by pediatric surgeons, occurring 1 in 2500-5000
live births. In 25-40% of cases, the anomaly is
encountered in an infant with trisomy 21 (Down
Syndrome). Duodenal atresia is not usually regarded as a Type I The most common and represents a
familial condition, despite isolated reports of this condition mucosal diaphragmatic membrane (web)
in multiple siblings. with an intact muscle wall .  
Type II Defect has a short fibrous cord which
• We report on a family with recurrence of isolated
connects the two blind ends of the atretic
uncomplicated duodenal atresia with the father and his
duodenum.
two children affected.
Type III There is no connection between the two
Case summary blind ends of the atretic duodenum with a
V-shaped mesenteric
• The subject of this report is a Caucasian female infant
delivered by cesarean section at 32 weeks gestation after
• Regardless of atresia severity, the proximal intestinal
spontaneous onset of preterm labor.
segment is typically dilated and the distal segment empty;
• The mother is 21 year old G2P1 woman with no known these are hallmarks of duodenal atresia. Although
medical problems. obstruction may occur anywhere within the duodenum, it
is most common in the vicinity of the ampulla of Vater.
• Her first pregnancy, a product of non-consanguineous
union resulted in preterm delivery at 31 weeks due to • Duodenal maldevelopment occurs secondary to either
polyhydramnios. This child was found to have duodenal inadequate endodermal proliferation (gut elongation
atresia, surgically corrected after birth. There were no other outpaces proliferation) or failure of the epithelial solid cord
anomalies found and genetic testing yielded normal to recanalize (failure of vacuolization).
results. • Frequent association of duodenal atresia or stenosis
• The father was the first person in the family to be surgically with other neonatal malformations suggests both
treated for isolated duodenal atresia. There are no other anomalies are due to a development error in the early
affected family members reported. period of gestation. Duodenal atresia differs from other
atresias of the small and large bowel, which are isolated
• This pregnancy was also complicated by polyhydramnios anomalies caused by mesenteric vascular accidents
(AFI 50) requiring reduction amniocentesis. The Karyotype during later stages of development.
and FISH analysis of amniotic fluid cells revealed normal
female karyotype (46XX). Results of routine maternal • No predisposing maternal risk factors are known.
prenatal screening tests were negative. Although up to one third of patients with duodenal atresia
have Down syndrome (Trisomy 21), it is not an
• At birth, positive pressure ventilation via bag and mask was independent risk factor for developing duodenal atresia.
administered due to poor respiratory support. APGAR
scores were 6,7,9 at 1, 5 and 10 minutes respectively. • Very little is known about Familial Duodenal Atresia so
Moderate amount of amniotic fluid was suctioned from the far. Most of the reported duodenal atresia cases were
gastrointestinal tract. After initial stabilization, she was either a part of a syndrome or postulated to be an
transferred to the NICU on nasal CPAP for respiratory autosomal recessive condition due to a history of
support. consanguinity in the parents.

• Physical and neuromuscular maturity testing on admission • Robinson et al recently reported an Irish clan with five
was consistent with 32 weeks gestation. She was small for affected individuals in different branches of the family and
gestational age with anthropometric measurements plotted no history of consanguinity. The authors theorized the
as follows: BW 3-10 %, FOC 25-50%, Length 10%. The possibility of an autosomal dominant pattern with
rest of the physical examination did not reveal major incomplete penetrance as the mode of inheritance in this
anomalies. family as several intervening relatives were
Diagnosis and NICU Course asymptomatic.
• Our case may be similar to the family reported by
• Duodenal atresia is very highly likely in this patient given Robinson et al since the father of the two siblings was the
the history of polyhydramnios and family history. The only one affected in his family. However, it differs from the
diagnosis was confirmed by radiography. She underwent Irish family in that the children are 100% affected children
surgery on the second day of life. so far. The duodenal atresia in our family is also an
isolated condition as none of the affected individuals have
• X-ray of the abdomen showed two large air filled spaces, other defects.
the so-called "double bubble" sign as shown in this figure.
• Duodenal atresia can occur in association with a genetic
abnormalities such as deletions in Ch 22q11 and Ch
12q24. A defect in the Ch 2p23-p24 is suggested as the
causal factor in the oculo-digito-esphago-duodenal
syndrome or Feingold syndrome. In contrast, the
affected individuals in our family had no known genetic
abnormalities.

• Defective fibroblastic growth factors (fgf) (signaling

molecules that are involved in organogenesis) are
implicated in other types of intestinal atresia/stenosis. An
absence of specific fibroblastic growth factors or their
receptors disrupts the signaling pathways resulting in
Conclusion
several different defects.

• Duodenal atresia can occur as an isolated condition or as

part of a genetic defect or a syndrome.
• Familial cases have been reported but the mode of
• Results of other diagnostic tests are as follows:
inheritance is unclear and the cause remains elusive.
•Neonatal head US - normal
•Abdominal US- isolated duodenal atresia, otherwise • Extensive genetic testing is recommended in affected
normal individuals and their family members especially if it’s a
•Renal Us with Doppler - Left mild pelviectasis, familial occurrence. Additional human and animal research
otherwise normal, no artery stenosis are needed to discover the causative factors of this rare
•Echocardiogram - moderate PDA at birth, no other condition.
abnormalities, follow-up echo – no PDA References
•Hearing screen- passed bilaterally
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3. Mishalany HC et al. Pyloroduodenal atresia: (diaphragm type): an autosomal
recessive diseas. Pediatrics 1978; 62:419.
• Gross pathology 4. Robinson I et al. Familial distal foregut atresia in a family with likely autosomal
• Grade III dominant inheritance pattern. Pediatri Surg Intl 2012; 28: 1151-1155.
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duodenal atresia duodenal atresia in a girl with 12q24.3-qtr deletion. Clinical Genetics 2002; 61: 468-
with no other 471.
6. Fairbanks TJ et al. Fibroblast growth factor receptor 2 IIIb invalidation - a potential
anomalies Grossly dilated cause of familial duodenal atresia. Journal of Pediatric Surgery 2003; 39: 872-874.
stomach,pylorus, 7. Van Bokhoven H et al. MYCN haploinsufficiency is associated with reduced brain
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http://courses.md.huji.ac.il/96854_e/Duodenal_atresia/slide_14.htm

2013 Texas Pediatric Society Electronic Poster Contest