Presentation
Premature (34 weeks) infant of a diabetic mother with respiratory distress at birth presenting with left renal agenesis, patent foramen ovale, and patent ductus arteriosus.
Patient Data
There are 13 pairs of ribs. The left 1st rib is mildly hypoplastic. The left 11th rib is hypoplastic at its medial end. The 12th and the 13th ribs are well developed. No evidence of a discrete anomaly in the cervical spine, clavicles and visualized upper extremities on the lateral views.
T11 vertebral body segmentation anomaly: Hypoplastic, small with butterfly configuration and manifest as two hemivertebrae.
T12 vertebral body: Mild hypoplasia at the left lateral aspect.
T13/last rib-bearing vertebral body: Mild hypoplasia at the right lateral aspect.
L1 and L2 vertebral bodies: Mild hypoplasia at the left lateral aspect and slight anterior beaking on the lateral view.
There are normal appearing 5 non rib-bearing lumbar segments. There are 5 grossly normal appearing sacral segments on this exam slightly limited due to overlying bowel gas. Ossification for 1st coccygeal segment is present.
The bone density is normal. The OG tube terminate in the stomach. Mild diffuse cardiomegaly. The pre and paravertebral soft tissues are normal. No abnormal calcifications.
The constellation of findings in the baby including absent left kidney, patent foramen ovale, and patent ductus arteriosus suggest VACTER syndrome.
Case Discussion
VACTER association is defined by co-occurrence of several genetic malformations: vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, and renal anomalies. Currently, there is no clear set of diagnostic criteria, but it is widely accepted to require at least three VACTER components for diagnosis. As VACTER is associated with various abnormalities, subsequent follow up studies such as renal ultrasound and echocardiogram along with a thorough clinical exam is indicated. In this case, renal ultrasound revealed left renal agenesis. Also, echocardiogram showed defects including patent foramen ovale and patent ductus arteriosus. These two criteria along with vertebral anomalies leads to a diagnosis of VACTER syndrome.
Vertebral anomalies of VACTER are classified into failure of formation, failure of segmentation, and fusion anomalies. Rib anomalies are also associated with vertebral abnormalities such as increased (supernumerary ribs) or decreased number of ribs and rib fusion.
This case was submitted with supervision and input from:
Soni C. Chawla, M.D.
Health Sciences Clinical Professor,
Department of Radiological Sciences,
David Geffen School of Medicine at UCLA.
Attending Pediatric Radiologist,
Olive View - UCLA Medical Center.
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