Butterfly vertebra associated with Alagille syndrome

Case contributed by Alvin P. Chan

Presentation

13 year old female with chronic jaundice and sclera icterus who presented with back pain.

Patient Data

Age: 13 year old
Gender: Female

1.  Mild clefting of T6 vertebral body.

2. Moderate clefting of the upper and lower end plates of T8 and T9 vertebral bodies, resulting in characteristic butterfly appearance.

3. Dysplastic appearance of T10 vertebral body. No rib anomalies.

4. No focal pneumonia, effusion or pneumothorax.

5. The cardiothymic silhouette is normal.

Case Discussion

Alagille syndrome is an autosomal dominant disorder associated with five major abnormalities: chronic cholestasis, characteristic facies (triangular facies with broad, prominent forehead and small, pointed chin, hypertelorism, deep-set eyes), ocular defect (e.g. posterior embryotoxon), congenital heart disease (e.g. peripheral pulmonary stenosis), vertebral anomaly. The most common vertebral anomaly is the butterfly vertebra, characterized by clefts of the vertebral body involving the thoracic spine (mid-lower) on plain radiograph. This anomaly is observed in up to 70% of all cases of Alagille syndrome, significantly more frequent than other causes of chronic cholestasis.

This case was submitted with supervision and input from:

Soni C Chawla, MD
Associate Professor
Department of Radiological Sciences
David Geffen School of Medicine at UCLA
Olive View - UCLA Medical Center

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Case information

rID: 62116
Published: 2nd Aug 2018
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included
Institution: University of California Los Angeles

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