Ramón L, Martínez R, Otero MC

Language: Spanish
References: 10
Page: 409-410
PDF size: 108.14 Kb.

ABSTRACT

In the Internacional Health Care Center La Pradera there is a patient of 14 years old that he has bilateral ptosis palpebral and paralisis of his vertical superior sight since he was a baby (first months of birth) without any other synthoms. If there is a possibility a mitochondrial desease in the form of Progressive External Ophthalmoplegia, we have done ultramicroscopic studies about the muscle (Pectoral right one) and REDOX studies in blood test, that confirm the diagnostic. He received the treatment of aesthetics plastic surgery of both eyelids and the nose that is bific (divided) and the post surgery evolution was good. Because of the clinic interest and due to the not very frequency desease we have decided through this publication let it know.

REFERENCES

1. Petty RKH, Harding AE, Morgan-Huges. The clinical features of mitochondrial myopathy. Brain 1986; 109: 915-38.

2. Pardo J, Prieto J. Enfermedades mitocondriales en neurología. Medicina 1994; 6: 2.295-305.

3. Zeviani M. Kloststock T. Mitochondrial disorders. Curr Opin Neurol 2001; 14: 553-60.

4. Munnich A, Rotig A, Chretien D, Cormier V, Bourgeron T. Clinical presentation of mitochondrial disorders in childhood. J Inherit Metab Dis 1996; 19: 521-30.

5. Garcia SMT. Citopatías mitocondriales. Aspectos clínicos. Rev Neurol 1994; 22: 182-5.

6. Johns DR. Mitochondrial DNA and disease. Seminars in medicine of the Beth Israel Hospital Boston. N Engl J Med 1995; 33: 638-44.

7. Montoya J, Playan A, Solano A, Alcaine NJ, Lopez PNJ, Pérez MA. Enfermedades del ADN mitocondrial. Rev Neurol 2000; 31: 324-8.

8. Kosmorsky G, Jhons DR. Neuro-ophthalmologic manisfestations of mitochondrial DNA disorders chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber´s hereditary optic neuropathy. Neurol Clin 1991; 9: 147-61.

9. Takeda S, Ohma E, Ikuta F. Involvement of extraocular muscle in mitochondrial encephalomyopathy. Acta Neurophatol 1990; 80: 118-22.

10. Holt IJ, Harding AE, Cooper JM, Schapira AHV, Toscano A, Clark JB, Morgan HJA. Mitochondrial myophaties clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol 1989; 26: 699-708.