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.
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 most severe and extreme end of the dural ectasia spectrum 3.
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 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 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 4.
The main differential diagnosis is that of other connective tissue disorders associated with meningoceles, including:
- 1. Resham Ejaz, Melissa Carter, and Karen Gripp. Lateral Meningocele Syndrome (Synonym: Lehman Syndrome) http://www.ncbi.nlm.nih.gov/books/NBK368476/
- 2 .Ejaz R, Qin W, Huang L et-al. Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. Am. J. Med. Genet. A. 2016;170A (4): 1070-5. doi:10.1002/ajmg.a.37541 - Pubmed citation
- 3 . Gripp KW, Robbins KM, Sobreira NL et-al. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am. J. Med. Genet. A. 2015;167A (2): 271-81. doi:10.1002/ajmg.a.36863 - Pubmed citation
- 4. Lehman RA, Stears JC, Wesenberg RL et-al. Familial osteosclerosis with abnormalities of the nervous system and meninges. J. Pediatr. 1977;90 (1): 49-54. Pubmed citation
- 5. Castori M, Morlino S, Ritelli M et-al. Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain. Am. J. Med. Genet. A. 2014;164A (2): 528-34. doi:10.1002/ajmg.a.36301 - Pubmed citation