Syndrom der lateralen Meningozele

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 .

Pathology

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

Lateral meningoceles are comprised by a protrusion of the arachnoid and dura through the foramina and represent the most severe and extreme end of the dural ectasia spectrum .

Associations

• Chiari I malformation
• syringomyelia
• idiopathic empty sella

Radiographic features

CT and MRI

Lateral meningocele syndrome typically manifests as extensive asymmetrical lateral lumbar meningoceles involving the 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 compartments in the interior of the spinal canal produce asymmetrical extrinsic distortion, displacement or compression of the spinal cord.

Treatment and prognosis

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

History and etymology

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

Differential diagnosis

The main differential diagnosis is that of other connective tissue disorders associated with meningoceles, including:

• neurofibromatosis type 1
• Marfan syndrome

Siehe auch:

• Wurzeltaschenzysten
• laterale thorakale Meningozele
• Morel Lavallée Läsion über der LWS
• lumbale subkutane Flüssigkeitseinlagerungen