MyPACS.net: Radiology Teaching Files > Case 646843

never visited MALROTATION IN AN ASYMPTOMATIC CHILD WITH HETEROTAXY SYNDROME
Contributed by: Children's Hospital Omaha, Radiologist, Omaha Childrens, Creighton University and UNMC, Nebraska, USA.
History: 4 wk old female who was noted to have a right sided stomach on prenatal ultrasound.
Images:[small]larger

Fig. 1: Appearance of normal Left sided stomach with normal rotation.

Fig. 2: Malroation with normally positioned left sided stomach

Fig. 3: Duodenum in right upper abdomen. Easy to diagnose after the upper GI was completed (see image 4)

Fig. 4: Malrotation with heterotaxy. Duodenum should cross midline to left and then the "reverse C-loop" should be at level of the pylorus to the left of mid-line.

Fig. 5

Fig. 6

Fig. 7

Fig. 8

Fig. 9
Findings:

Physical exam revealed a normal-appearing 4 week old infant.

Upper GI showed that the duodenum was was a right sided stomach with malroation as seen in heterotaxy syndromes with poly or asplenia
Because of the high incidence of volvulus with this disorder a Ladd’s procedure was scheduled
5 days before the scheduled surgery patient presented with a 2 day history of bilious vomiting. The patient went directly to the OR for emergency surgery.

Diagnosis: Malrotation with volvulus in patient with heterotaxy syndromes
Discussion:

HETEROTAXY SYNDROME
- Also known as situs ambiguous
- Refers to visceral malposition and dysmorphism associated with indeterminate atrial arrangement
- Associated with mutations in CFC1 gene, encoding CRYPTIC protein, on chromosome 2

TYPES
- Heterotaxy with asplenia (ie, right isomerism or bilateral right-sidedness)
Both lungs have three lobes and eparterial bronchi [main bronchus located superior to ipsilateral main pulmonary artery]

- Heterotaxy with polysplenia (ie, left isomerism or bilateral left-sidedness)
Both lungs have two lobes and hyparterial bronchi [main bronchus passes inferior to ipsilateral main pulmonary artery]

Incidence of associated anomalies include:
- congenital heart disease in patients with heterotaxy ranges from 50% to nearly 100%
- Malrotation is a frequent finding (89% in one study); 60% present by 1 month, 90% by 1 year
Therefore, imaging evaluation should include chest radiography, echocardiography, abdominal US, and upper GI series
Avoid delays when malrotation is diagnosed even if patient is asymptomatic

MALROTATION
Occurs in 1 in 500 live births
Male predominance of at least 2:1
Approximately 75% will eventually develop volvulus, and 75% of those will present within the first month of life
Mortality of rate for malrotation with volvulus is between 3% and 15%

PATHOPHYSIOLOGY
- Normal intestinal rotation
- duodenojejunal junction rotates to Left, 270° counterclockwise
- results in retroperitoneal duodenum anchored in LUQ at ligament of Treitz
- cecum rotates to Right, 270° counterclockwise
- results in RLQ cecum

Malrotation = incomplete rotation
- interruption at any point in process

CLINICAL PRESENTATION
- Hallmark of presentation: bilious emesis
- Classic: infant with sudden onset bilious emesis and abdominal distention
- Atypical/chronic: unimpressive vague abdominal pain or intermittent nonbilious vomiting
- Late: chronic abdominal pain, acute duodenal obstruction, chronic diarrhea, malabsorption, FTT
- Adults: long history of intermittent abdominal pain, acute severe abdominal pain, bowel obstruction

DIFFERENTIAL DIAGNOSIS
- Malrotation with volvulus
- Duodenal atresia
- Jejunoileal atresia
- Necrotizing enterocolitis (NEC)
- Meconium ileus
- Hypertrophic pyloric stenosis (HPS)

DIAGNOSTIC RADIOLOGY -
Abdominal plain film
Upper GI is the examination of choice
Barium enema

Diagnosis can sometimes be made on Ultrasound and CT, however these are not the indicated studies

COMPLICATIONS OF MALROTATION
- Obstruction
- Midgut volvulus
- Peritoneal (Ladd) bands
- Internal hernia
- Hypoproteinemic gastroenteropathy
- Melena secondary to bleeding from mesenteric intramural varices
- Sepsis secondary to mucosal necrosis

RISK FACTORS FOR MALROTATION
- Congenital diaphragmatic hernia
-Abdominal wall defects
-Duodenal atresia
-Prune-belly syndrome
-Heterotaxy syndrome with asplenia/polysplenia

TREATMENT
- Emergent consult with pediatric surgeon

PROGNOSIS
- Excellent when operation performed in timely manner
- Short gut syndrome = high morbidity

Operation
- Ladd’s procedure with appendectomy

References:

Applegate KE, et al. 1999. Situs revisited: imaging of the Heterotaxy syndrome. Radiographics. 19:837-852.
Behrman: Nelson Textbook of Pediatrics, 16th ed. 2000:1132-1136.
Hernanz-Schulman M. 1999. Imaging of neonatal gastrointestinal obstruction. Rad Clin of N Am. 37(6):1163-1186.
Kimura K, Loening-Baucke V. 2000. Radiologic decision-making: Bilious vomiting in the newborn: rapid diagnosis of intestinal obstruction. Am Fam Physician. 61(9):2791-2798.
Long FR, et al. 1996. Radiographic patterns of intestinal malrotation in children. Radiographics. 16:547-556.
Long FR, et al. 1996. Intestinal malrotation in children: tutorial on radiographic diagnosis in difficult cases. Radiology. 198(3):775-780.
Marx: Rosen’s Emergency Medicine: Concepts and Clinical Practice, 5th ed. 2002:2297-2302.
Townsend: Sabiston Textbook of Surgery, 16th ed. 2001:1477-1478.

Sarah Rozeboom-Visiting medical studentat Doerenbecher Children's hospital, Portland ,Oregon . From University of Michigan

Phillip Silberberg M.D., Department of Radiology, Children's Hospital, Omaha, NE

Comments:
No comments posted.
Additional Details:

Case Number: 646843Last Updated: 11-07-2004
Anatomy: Gastrointestinal (GI)   Pathology: Congenital
Exam Date: Access Level: Readable by all users
Keywords: malrotation heterotaxy syndrome

The reader is fully responsible for confirming the accuracy of this content.
Text and images may be copyrighted by the case author or institution.
You can help keep MyPACS tidy: if you notice a case which is not useful (e.g. a test case) or inaccurate, please send email to alert@mypacs.net.