J Korean Soc Radiol.  2015 Jan;72(1):73-76. 10.3348/jksr.2015.72.1.73.

Jarcho-Levin Syndrome with Diastematomyelia: Case Report of an Adult Patient and Review of Literature

• Kim YS
• Lee JH
• Kang MJ
• Bae KE
• Kim JH
• Jeong MJ
• Kim SH
• Kim JY
• Kim SH
• Lee HB

• KMID: 1823938
• DOI: http://doi.org/10.3348/jksr.2015.72.1.73

Abstract

Jarcho-Levin syndrome (JLS) is a rare congenital dysostosis characterized by multiple vertebral and costal anomalies. The combination of JLS and neural tube defect is rare. Only six cases of JLS accompanying diastematomyelia have been reported; all were in infants or children. We present the case of a 37-year-old female patient with JLS who also had diastematomyelia in lumbar vertebral level. This is the seventh case of JLS with diastematomyelia, and the first adult case.

MeSH Terms

Adult*
Child
Dysostoses
Female
Humans
Infant
Neural Tube Defects*

Figure

• 

  Fig. 1 A 37-year-old female had Jarcho-Levin syndrome with diastematomyelia. A. Whole spine scanogram showed thoracolumbar scoliosis and extensive malsegmentation of the thoracolumbar spines. Numerical and various intrinsic rib anomalies including irregular fusion (arrows), irregular narrowing were also noted on the left side. B-D. Axial computed tomography (Aquilion 64, Toshiba Medical Systems, Tokyo, Japan) of spine demonstrated the spina bifida at the level of L3 vertebra (B, curved arrows) and diastematomyelia with a large intraspinal bony septum at L4 vertebral level (C, arrow). Volume rendering reconstruction (Aquarius iNuition ver 4.4.7, Terarecon, Inc.) image (D) demonstrated that variety of vertebral deformities including hemivertebrae (arrowheads), block vertebrae (asterisks) in thoracolumbar spines. And it also demonstrated multiple fusion of ribs on the left side (D, arrows). E, F. Spinal magnetic resonance images demonstrated the split cord malformation at the whole thoracolumbar vertebral level. Axial T2-weighted scan at the level of T2 shows the separated spinal cord into two hemicords (E, arrow). Coronal T2-weighted image reveals a large intraspinal bony septum (F, black arrow).

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