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Kevin Rice, MD and Kellie Greenblatt, MD

VACTERL Association

Hypoxia in a Neonate • Xray of the Week

What is the diagnosis?

VACTERL Association

Figure 1. Frontal chest and abdomen radiographs. What is the diagnosis?

VACTERL association

Figure 2. Annotated frontal chest and abdomen radiographs. The orogastric tube (blue arrow) is in a blind ending pouch due to esophageal atresia. The presence of air in the bowel indicates that there is a tracheoesophageal fistula. T7 is a butterfly vertebral body (yellow arrow). There is hypoplasia of the sacrum with multiple lumbar appearing vertebral bodies (green arrow). There is also a small right pneumothorax (red arrow).

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VACTERL association

Figure 3. A different patient with VACTERL. Note the orogastric tube (blue arrow) coiled in a blind ending pouch due to esophageal atresia. There is also a left sided hemivertebra at L3-4 (green arrow).

Discussion

VACTERL association is not a syndrome, but due to an constellation of congenital anomalies involving several systems. The incidence is approximately 1 in 10,000 to 1 in 40,000 live-born infants and the etiology of the disorder is unknown. At least 3 of the following anomalies must be ​present to confirm the diagnosis: V- vertebral body defects A - anal atresia C - cardiac anomalies T- tracheoesophageal fistula E - esophageal atresia R- renal anomalies L- limb anomalies (especially radial)

Fortunately, VACTERL is not associated with neurocognitive impairment. Treatment is variable depending on the malformations and is typically focused on severe gastrointestinal malformations such as anal atresia and tracheoesophageal fistula as well as any significant cardiac anomaly.

References:

1. Solomon BD. VACTERL/VATER Association. Orphanet Journal of Rare Diseases 2011;6 (1): 56. doi:10.1186/1750-1172-6-56.

Kellie Greenblatt, MD

Kellie Greenblatt, MD

Pediatric Radiologist, RIMA

A native of the Bay Area, Dr. Greenblatt attended the University of California at Berkeley where she earned a BA in Human Biodynamics. Following graduation, Dr. Greenblatt performed basic research for four years in the toxicology laboratory at Lawrence Livermore Laboratory focusing on carcinogens found naturally in cooked meat.

Following her work at Lawrence Livermore, Dr. Greenblatt attended medical school at the Chicago Medical School. Following medical school, Dr. Greenblatt did two years of residency training in Surgery before entering a Diagnostic Radiology residency. She completed her Radiology Residency at Kaiser Permanente in Los Angeles, California, then did a one year fellowship in Pediatric Radiology at Children’s Hospital Los Angeles.

Kevin Rice, MD

Kevin M. Rice, MD is president of Global Radiology CME and serves as the Chief of staff and Chair of the Radiology Department of Valley Presbyterian Hospital in Los Angeles, California and is a radiologist with Renaissance Imaging Medical Associates. Dr. Rice's passion for state of the art radiology and teaching includes acting as a guest lecturer at UCLA. Dr. Rice co-founded Global Radiology CME with Natalie Rice to provide innovative radiology education at exciting international destinations, with the world's foremost authorities in their field. In 2016, Dr. Rice was nominated and became a semifinalist for a "Minnie" Award for the Most Effective Radiology Educator.

Follow Dr. Rice on Twitter @KevinRiceMD

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