Lateral meningocele syndrome

The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.[2]

Lateral meningocele syndrome
Other namesLehman syndrome[1]
Lateral meningocele syndrome is inherited in an autosomal dominant manner

Presentation

Facial features found in this syndrome include

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.

Genetics

This syndrome appears to be inherited in an autosomal dominant fashion.

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.[3]

Diagnosis

Treatment

History

This syndrome was first described by Lehman et al. in 1977.[4] 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.

gollark: ++delete lyricly again
gollark: nakokonakokonananakokokokonanakonakokokonanakonanakokonakonanakonakokonananakokonakokonakokonananakokokokonanakonanakonanananananakokonananakonanakokonanananakonakokonanakonanananakonanananananakokonanakonakonakokokonakokonanakokonanakonakonakokonakokokonananakonanananananakokokonakokokonakokonakonanakonakokokonakonananakokonakonananananakonanananananakokokonakonananakokonakonanananakokonakonanakonakokokonanakokonanakonanananananakokonakonanakonakokonakokonakonakokokonananananakokokonanakonanakokonakokokokonakokokonakokonanakokonanakonakonakokonanakonanananakonanananananakokonanakonakonakokonakokokonanakokonananakokonakokonakokokokonakokonanakonananakokonakonanakonakokonakokokonanakokonanakokokonanakonanananananakokokonakokokonakokonakonanananakokonakonanakonakokonananakokonakokonakonananananakonanananananakokonakonanananakokonanananakonakokokonanakokonanakonanananananakokonanananakonakokonakokokonananakonanananananakokonanakonakonakokokokonanananakokokonakonananakokokonanakonanakokonanananakonanakonanananananakokonakokonananakokonanakonakonakokokonakonananakokokonakonananakokonanakonakonakokokonanakona
gollark: nkokonkokonnnkokokokonnkonkokokonnkonnkokonkonnkonkokonnnkokonkokonkokonnnkokokokonnkonnkonnnnnnkokonnnkonnkokonnnnkonkokonnkonn
gollark: <@331320482047721472> do you
gollark: ddg! "psi-7"

References
  1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Lateral meningocele syndrome". www.orpha.net. Retrieved 20 October 2019.
  2. Pamir, M. Memet Ö̈zek, Giuseppe Cinalli, Wirginia J. Maixner; forewords by C. Sainte-Rose, C. di Rocco; preface by M. Necmettin, ed. (2008). Spina bifida : management and outcome. Milan: Springer. p. 432. ISBN 9788847006508.
  3. Gripp, K. W.; Robbins, K. M.; Sobreira, N. L.; Witmer, P. D.; Bird, L. M.; Avela, K; Makitie, O; Alves, D; Hogue, J. S.; Zackai, E. H.; Doheny, K. F.; Stabley, D. L.; Sol-Church, K (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. PMC 5589071. PMID 25394726.
  4. Lehman RAW, Stears JC, Wesenberg RL, Nusbaum ED (1977) Familial osteosclerosis with abnormalities of the nervous system and meninges. J Pediat 90: 49-54
Classification
External resources


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.