Márquez-Palacios RE, Castellanos-Ayala G, Gómez-Garza G, Dávila-Gutiérrez G

Language: Spanish
References: 27
Page: 251-257
PDF size: 906.07 Kb.

ABSTRACT

Among the leukoencephalopathies, the leukodystrophies are a group of neurodegenerative diseases common in pediatrics. However, there are some rare leukodystrophies that have recently been described as CACH Syndrome. We report the first case of CACH syndrome in a Mexican 1-year and 2-month old infant with abnormal neurological development until the onset of his current condition, which started after an infection eventually manifested irritability, ataxia, decreased visual acuity and spasticity. The brain MRI showed diffuse and evanescent leukoencephalopathy. During his study other entities were discarded. CACH syndrome is one of the new leukodystrophies, its diagnosis is based on clinical evolution, characteristic images and molecular study, with an autosomal recessive inheritance pattern and unspecified treatment. In the near future, genetic studies will allow recognizing the different phenotypes, genotypes, facilitating a timely diagnosis to provide gene therapy

REFERENCES

1. 1 . Kohls chütter A , Eichler F. Childhood leukodystrophies: A clinical perspective. Expert Rev. Neurother 2011; 10: 1485–96.

2. 2 . Lyo n G, Fa t t a l - Va l ev s k i A , Ko l o d n y E . Leukodystrophies clinical and genetic aspects. Top Magn Reson Imaging 2006; 17: 219-42.

3. Waxman S. Demyelinating diseases new pathological insights, new therapeutic targets. N Engl J Med. 1998; 338: 323-5.

4. Bugiani M, Boor I, Powers J, Scheper G, Van der Knaap M. Leukoencephalopathy with vanishing white matter: A Review. J Neuropathol Exp Neurol 2010; 69 :987-96.

5. Schiffmann R, Elroy-Stein O. Childhood ataxia with CNS hypomyelination/vanishing white matter disease -A common leukodystrophy caused by abnormal control of protein synthesis. Molecular Genetics and Metabolism 2006; 88: 7–15.

6. N. Wong S, Luk D, N. Wong V, Scheper G, van der Knaap M. Vanishing white matter disease: The first reported chinese patient. J Child Neurol 2008; 23: 710.

7. San Antonio-Arce V, Fernández-Mayoralas M, Muñoz-Jareño N, Fresneda-Machado C, Sáiz-Ayala A, Campos-Castelló J. Leucoencefalopatía con sustancia blanca evanescente: a propósito de un caso. Rev Neurol 2006; 43: 535-40.

8. Schiffmanna Raphael , Van Der Knaap Marjo S. The latest on leukodystrophies. Curr Opin Neurol 2004;17:187–92.

9. 9 . Kohlschutter A, Eichler F. Childhood leukodystrophies: A clinical perspective. Expert Rev. Neurother 2011; 10:1485–96 .

10. Vanderver A, Schiffmann R, Timmons M, Kellersberger K, Fabris D, Hoffman E, et al. Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/ vanishing white matterdisease. Clinical Chemistry 51 2005;11:2031–42

11. Patay Zoltan. Diffusion-weighted MR imaging in leukodystrophies .Eur Radiol 2005; 15: 2284–303.

12. Nowell M, Grossman R, Hackney D, Zimmerman R, Goldberg H, Bilaniuk L. MR Imaging of white matter disease in children. AJR 1988; 151: 359-65.

13. Bernard L. M, McCann Deidrick K, Moser H, Naidu S. Leukodystrophies: pathogenesis, diagnosis, strategies, therapies and future research directions. Journal of Child Neurology 2003;18: 581-90.

14. V. Raymond G, Eichler F, Fatemi A, Naidu S. Leukodystrophies. international review of child neurology series. Pediatric Neurol 2011; 8: 240.

15. Peña-Landín D. Dávila-Gutiérrez G, Gómez- Garza G, Serna M. Enfermedad de Van der Knaap (leucoencefalopatía megaencefálica con quistes subcorticales). Informe en un niño mexicano. Acta Pediatr Mex 2011;32(6): 359-66.

16. Kohlschütter A, Bley A, Brockmann K, Gärtner J, Krageloh-Mann I, Rolfs A, Schöls L . Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. Brain & Development 2010; 32: 82– 9.

17. Lyon G, Fattal-Valevski A, Kolodny E. Leukodystrophies clinical and genetic aspects.Top Magn Reson Imaging 2006;17:219-242.

18. Kohler W, Hubertusburg F . Leukodystrophies with late disease onset: an update . Current Opinion in Neuroly 2010;23: 234–41 .

19. Jung-Eun Cheon, Yong S, Kyu-Chang W, Byung- Kyu C, Je G, Chong J, et al. Leukodystrophy in children: A pictorial review of MR imaging features. RadioGraphics 2002; 22: 461–76. tratamiento específico.

20. McKee A, Gavett B, Stern R, Nowinski C, Cantu R, Kowall N, et al. TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathy .Neuropathol Exp Neurol 2010; 69: 918-29.

21. Meoded A, Poretti A, Yoshida S, Huisman M. Leukoencephalopathy with vanishing white matter: Serial MRI of the brain and spinal cord including diffusion tensor Imaging. Neuropediatrics 2011; 42: 82–5.

22. Jurkiewicz E, Mierzewska H, Bekiesinska- Figatowska M, Pakua-Kosciesza I, Kmiec T, Scheper G, et al. MRI of a family with leukoencephalopathy with vanishing white matter. Pediatr Radiol 2005; 35: 1027–30.

23. P. Richardson J, S. Mohammad S, D. Pavitt G. Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic Initiation factor 2B complex formation and activity. Molecular and Cellular Biology 2004; 24: 2352–63.

24. Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, et al. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 2004; 62:1509-17.

25. Scali O, Di Perri C , Federico A. The spectrum of mutations for the diagnosis of vanishing white matter disease. Neurol Sci 2006; 27:271–7.

26. J.Leegwater P, C. Pronk Jan, Van der Knaap M. Leukoencephalopathy with vanishing white matter: from magnetic resonance imagin pattern to five genes. Journal of Child Neurology 2003; 18: 639-45.

27. Van der Knaap M, Pronk J, Scheper G. Vanishing white matter disease. Lancet Neurol 2006; 5: 413-23.