Lateral meningocele syndrome
Updates to Article Attributes
Lateral meningocoele syndrome(LMS) is 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
LMSLateral meningocoele syndrome is inherited in an autosomal dominant manner as a result of a de-novo NOTCH3 pathogenic variant.1,2
Lateral maningocoelesmeningocoeles 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 is associated to Chiari I malformation, Syringomyelia orsyringomyelia or idiopathic "empty sella".
Radiographic features
CT/MRI: and MRI
Extensive asymmetric lateral lumbar meningocoelemeningocoeless involving 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
ItLateral meningocoele syndrome was first described in 1977 by Lehman et al.44.
Differential Diagnosis
NeurofibromatosisThe main differential diagnosis is that of other connective tissue disorders which have meningocoeles. These include:
-<p><strong>Lateral <a title="Congenital spinal meningocoeles" href="/articles/congenital-spinal-meningocoele">meningocoele</a> syndrome(LMS</strong>) 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. <sup>1</sup></p><h4> </h4><h4>Pathology</h4><p>LMS is inherited in an autosomal dominant manner as a result of a de-novo NOTCH3 pathogenic variant.<sup>1,2</sup></p><p>Lateral maningocoeles are comprised by protrusion of the arachnoid and dura through the foramina and represent the severe and extreme of the dural ectasia spectrum.<sup>5</sup></p><h4>Associations</h4><p>It is associated to Chiari I malformation, Syringomyelia or idiopathic "empty sella".</p><p> </p><h4>Radiographic features</h4><p>CT/MRI:</p><p>Extensive asymmetric <a href="/articles/lateral-lumbar-meningocoele">lateral lumbar meningocoele</a>s 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.</p><h4>Treatment and prognosis</h4><p>Symptomatic treatment for lateral meningocoeles, may require surgical intervention in large lesions.</p><h4>History and etymology</h4><p>It was first described in 1977 by Lehman et al<sup>.4</sup></p><h4>Differential Diagnosis</h4><p>Neurofibromatosis type 1.</p><p>Marfan's Syndrome</p><h4> </h4>- +<p><strong>Lateral meningocoele syndrome</strong> is a rare hereditary connective tissue disorder characterized by multiple lateral spinal <a href="/articles/meningocoele-1">meningocoeles</a>, distinctive facial features, joint hypermobility, hypotonia, skeletal abnormalities, congenital cardiovascular malformations, urogenital anomalies and neurologic findings. <sup>1</sup></p><h4>Pathology</h4><p>Lateral meningocoele syndrome is inherited in an autosomal dominant manner as a result of a de-novo NOTCH3 pathogenic variant.<sup>1,2</sup></p><p>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.<sup>5</sup></p><h5>Associations</h5><p>It is associated to <a href="/articles/chiari-i-malformation">Chiari I malformation</a>, <a href="/articles/syringomyelia">syringomyelia</a> or idiopathic "empty sella".</p><h4>Radiographic features</h4><h5>CT and MRI</h5><p>Extensive asymmetric lateral lumbar <a href="/articles/meningocoele-1">meningocoeles</a> 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.</p><h4>Treatment and prognosis</h4><p>Symptomatic treatment for lateral meningocoeles, may require surgical intervention in large lesions.</p><h4>History and etymology</h4><p>Lateral meningocoele syndrome was first described in 1977 by Lehman et al <sup>4</sup>.</p><h4>Differential Diagnosis</h4><p>The main differential diagnosis is that of other connective tissue disorders which have meningocoeles. These include: </p><ul>
- +<li><a href="/articles/neurofibromatosis-type-1">neurofibromatosis type 1</a></li>
- +<li><a href="/articles/marfan-syndrome">Marfan's syndrome</a></li>
- +</ul><p> </p>
References changed:
- 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. <a href="http://dx.doi.org/10.1002/ajmg.a.36301">doi:10.1002/ajmg.a.36301</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/24311540">Pubmed citation</a><span class="auto"></span>
- 1. Resham Ejaz, Melissa Carter, Karen Gripp. Lateral Meningocele Syndrome. (2016) <a href="https://www.ncbi.nlm.nih.gov/pubmed/27336130">Pubmed</a> <span class="ref_v4"></span>
- 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. <a href="http://dx.doi.org/10.1002/ajmg.a.37541">doi:10.1002/ajmg.a.37541</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/26754023">Pubmed citation</a><span class="auto"></span>
- 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. <a href="http://dx.doi.org/10.1002/ajmg.a.36863">doi:10.1002/ajmg.a.36863</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/25394726">Pubmed citation</a><span class="auto"></span>
- 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. <a href="http://www.ncbi.nlm.nih.gov/pubmed/830893">Pubmed citation</a><span class="auto"></span>
- 5 .http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36863/epdf
- 1. http://www.ncbi.nlm.nih.gov/books/NBK368476/
- 2 .http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37541/epdf
- 3. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36301/full
- 4. http://www.ncbi.nlm.nih.gov/pubmed/830893