Medicine:Lateral meningocele syndrome

From HandWiki
Lateral meningocele syndrome
Other namesLehman syndrome[1]
Autosomal dominant - en.svg
Lateral meningocele syndrome is inherited in an autosomal dominant manner

Lateral meningocele syndrome, also known as Lehman syndrome,[2] is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.[3]

Presentation

Facial features found in this syndrome include

  • dolichocephaly
  • hypertelorism
  • ptosis
  • microretrognathia
  • high arched palate
  • long flat philtrum
  • low set ears

Non facial features of this syndrome include

The lateral meningoceles are a common finding in this syndrome. They may be associated with neurological abnormalities and result in bladder dysfunction and neuropathy. Diagnosis is based on a presentation concurrent with previous clinical reports, as well as a heterozygous pathogenic variant in the NOTCH3 gene.[4]

Genetics

This syndrome appears to be inherited in an autosomal dominant fashion; however, X-linked inheritance has not been completely ruled out.

Molecular analyses suggest that the causative mutations cause a truncation of the protein. These mutations result in the loss of PEST sequence in the protein. This loss is associated with a prolonged half life of the protein.

Mutations in Notch 3 were found to be associated with this syndrome.[5]

Treatment

Rarely, surgical intervention is required for neurologic manifestations. Some patient benefit from chronic pain management, rehabilitation medicine, and physiotherapy, as well as routine management of "cleft palate, hearing loss, congenital cardiac defects, GU abnormalities, feeding difficulties."[6]

History

This syndrome was first described by Lehman et al. in 1977.[7] This paper described a 14-year-old girl with a number of unusual findings. Her mother shared some of the same findings. Since then over a dozen additional cases have been reported.

References

  1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Lateral meningocele syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789. Retrieved 20 October 2019. 
  2. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Lehman syndrome" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2537&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2789&Disease(s)/group%20of%20diseases=Lehman-syndrome&title=Lehman-syndrome&search=Disease_Search_Simple. 
  3. Spina bifida : management and outcome. Milan: Springer. 2008. p. 432. ISBN 9788847006508. 
  4. Ejaz, Resham; Carter, Melissa; Gripp, Karen (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A. et al., eds., "Lateral Meningocele Syndrome", GeneReviews® (Seattle (WA): University of Washington, Seattle), PMID 27336130, http://www.ncbi.nlm.nih.gov/books/NBK368476/, retrieved 2021-04-21 
  5. Gripp, K. W.; Robbins, K. M.; Sobreira, N. L.; Witmer, P. D.; Bird, L. M.; Avela, K; Makitie, O; Alves, D et al. (2014). "Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome". American Journal of Medical Genetics Part A 167A (2): 271–81. doi:10.1002/ajmg.a.36863. PMID 25394726. 
  6. Ejaz, Resham; Carter, Melissa; Gripp, Karen (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A. et al., eds., "Lateral Meningocele Syndrome", GeneReviews® (Seattle (WA): University of Washington, Seattle), PMID 27336130, http://www.ncbi.nlm.nih.gov/books/NBK368476/, retrieved 2021-04-21 
  7. Lehman RAW, Stears JC, Wesenberg RL, Nusbaum ED (1977) Familial osteosclerosis with abnormalities of the nervous system and meninges. J Pediat 90: 49-54

External links

Classification
External resources