Lateral meningocele syndrome

Lateral meningocoele syndrome is a rare hereditary connective tissue disorder characterized by multiple lateral spinal meningocoeles, distinctive facial features, joint hypermobility, hypotonia, skeletal abnormalities, congenital cardiovascular malformations, urogenital anomalies and neurologic findings. ¹

Pathology

Lateral meningocoele syndrome is inherited in an autosomal dominant manner as a result of a de-novo NOTCH3 pathogenic variant.^1,2-2

Lateral meningocoeles are comprised by protrusion of the arachnoid and dura through the foramina and represent the severe and extreme of the dural ectasia spectrum.⁵

Associations

It iscan be associated towith Chiari I malformation, syringomyelia or idiopathic "empty sella".

Radiographic features

CT and MRI

Extensive asymmetric lateral lumbar meningocoeles involving the lumbar neural foramina and paraspinal soft tissues with associated extensive remodeling of the neural arches, articular pillar and neural foramina as well as some degree of scalloping of the posterior surface of the involved segments. Intradural loculated compartments within the spinal canal could produce asymmetric extrinsic distortion and displacement of the lower  spinal cord.

Treatment and prognosis

Symptomatic treatment for lateral meningocoeles, may require surgical intervention in large lesions.

History and etymology

Lateral meningocoele syndrome was first described in 1977 by Lehman et al ⁴.

Differential Diagnosisdiagnosis

The main differential diagnosis is that of other connective tissue disorders which have meningocoeles. These include: 

• neurofibromatosis type 1
• Marfan's syndrome