Síndrome de meningocele lateral (síndrome de Lehman)

Carolina Isaza, Andres Parra, Enrico Rubagotti, Harry Pachajoa

Texto completo:

HTML

Resumen

Introducción: el síndrome de meningocele lateral, o el síndrome de Lehman, es un raro trastorno autosómico dominante caracterizado por múltiples meningoceles espinales laterales, rasgos faciales distintivos, hipermovilidad articular e hipotonía, junto con anomalías esqueléticas y cardíacas.
Presentación del caso: se presenta el caso de un paciente de origen colombiano, con sospecha de síndrome de meningocele lateral, con facies dismórfica, meningoceles laterales múltiples y ectasias durales.
Conclusiones: las características clínicas del paciente evaluado corresponden a un síndrome de meningocele lateral.

Referencias

Lehman RA, Stears JC, Wesenberg RL, Nusbaum ED. Familial osteosclerosis with abnormalities of the nervous system and meninges. The Journal of pediatrics. 1977;90(1):49-54. Epub 1977/01/01.

Katz SG, Grunebaum M, Strand RD. Thoracic and lumbar dural ectasia in a two-year-old boy. Pediatric radiology. 1978;6(4):238-40. Epub 1978/02/28.

Philip N, Andrac L, Moncla A, Sigaudy S, Zanon N, Lena G, et al. Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome. Clinical dysmorphology. 1995;4(4):347-51. Epub 1995/10/01.

Gripp KW, Scott CI, Jr., Hughes HE, Wallerstein R, Nicholson L, States L, et al. Lateral meningocele syndrome: three new patients and review of the literature. American journal of medical genetics. 1997;70(3):229-39. Epub 1997/06/13.

Chen KM, Bird L, Barnes P, Barth R, Hudgins L. Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. American journal of medical genetics Part A. 2005;133A(2):115-21. Epub 2005/01/25.

Gripp KW1, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, et al. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A. 2015 ;167A(2):271-81.

Miles J, Pennybacker J, Sheldon P. Intrathoracic meningocele. Its development and association with neurofibromatosis. Journal of neurology, neurosurgery, and psychiatry. 1969;32(2):99-110. Epub 1969/04/01.

Altman A, Uliel L, Caspi L. Dural ectasia as presenting symptom of Marfan syndrome. Isr Med Assoc J. 2008;10(3):194-5.

Swischuk LE. Image of the Newborn, Infant, and Young Child. Fifth ed. USA: Lippincott Williams & Wilkins; 2004.

M. Memet Özek GC, Wirginia J. Maixner. Spina Bifida. Management and Outcome. Italia: Springer; 2008.

Lazareff JA. Neural Tube Defects. Singapore: World Scientific Publishing Co.; 2011.

Ejaz, Resham, et al. "Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation." American Journal of Medical Genetics Part A (2016).

Lathia, Justin D., Mark P. Mattson, and Aiwu Cheng. "Notch: from neural development to neurological disorders." Journal of neurochemistry 107.6 (2008): 1471-1481.

(13) Lasky, Joseph L., and Hong Wu. "Notch signaling, brain development, and human disease." Pediatric research 57 (2005): 104R-109R.

(14) Nagy E, Maquat LE. 1998. A rule for termination-codon position within intron-containing genes: When nonsense affects RNA abundance. Trends Biochem Sci 23:198–199.

(15) Khajavi M, Inoue K, Lupski JR. 2006. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Europ J Hum Genet 14:1074–1081.

(16) Bellavia D, Checquolo S, Campese AF, Felli MP, Gulino A, Screpanti I. 2008. Notch3: From subtle structural differences to functional diversity. Oncogene 27:5092–5098.

Enlaces refback

  • No hay ningún enlace refback.