Lateral meningocele syndrome

The lateral meningocele syndrome is an extremely rare hereditary connective tissue disorder characterized by multiple lateral lumbar meningoceles, distinctive facial features, joint hypermobility, hypotonia, skeletal abnormalities, congenital cardiovascular malformations, urogenital anomalies and neurologic findings ¹.

Pathology

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

Lateral meningoceles 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

• Chiari I malformation
• syringomyelia
• idiopathic empty sella

Radiographic features

CT and MRI

Lateral meningocele syndrome typically manifests as extensive but asymmetric lateral lumbar meningoceles involving the neural foramina and paraspinal soft tissues with associated extensive remodelling 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 compartments in the interior of the spinal canal produce asymmetric extrinsic distortion, displacement or compression to the spinal cord.

Treatment and prognosis

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

History and etymology

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

Differential diagnosis

The main differential diagnosis is that of other connective tissue disorders which haveassociated with meningoceles. These include, including: 

• neurofibromatosis type 1
• Marfan's syndrome