Lateral meningocoele syndrome
Lateral meningocoele syndrome is an extremely rare hereditary connective tissue disorder characterized by multiple lateral lumbar meningocoeles, distinctive facial features, joint hypermobility, hypotonia, skeletal abnormalities, congenital cardiovascular malformations, urogenital anomalies and neurologic findings. 1
Lateral meningocoele syndrome is inherited in an autosomal dominant manner as a result of a de-novo NOTCH3 pathogenic variant.1-2
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
CT and MRI
Lateral meningocoele syndrome typically manifests as extensive but asymmetric lateral lumbar meningocoeles 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 asymmetric extrinsic distortion, displacement or compression to the 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.
The main differential diagnosis is that of other connective tissue disorders which have meningocoeles. These include:
- 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. 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
- 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 . 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