Moguel-Ancheita S, Rodríguez-Garcidueñas W

Language: Spanish
References: 14
Page: 3-8
PDF size: 144.51 Kb.

ABSTRACT

Objective: We undertook this study to describe central nervous system (CNS) abnormalities associated with congenital cranial dysinnervation disorders (CCDD).
Methods: This was a retrospective, observational, transversal and descriptive study including patients with congenital fibrotic strabismus. We analyzed clinical files of patients from 2001 to 2006. Neurological lesions were reported.
Results: Restrictive strabismus was demonstrated in all cases. Sixteen patients were included: nine males and seven females. Different neurological lesions were reported: corpus callosum anomalies, severe cortipathy, epilepsy, cavum vergae, nystagmus, occipital subarachnoid cyst, and hydrocephalus. Mental retardation was reported in 56% of patients. Different malformations were reported: genital malformations, trigonocephalus, camptodactyly, mild facial hypoplasia, low set ears, and agenesis of left ear. Blepharoptosis was present in 81% of patients. The most frequent form of strabismus was exotropia (56%), hypotropia in 37.5%, hypertropia 18.7%, “A” pattern 18.7%, and esotropia in 6.25%. Affection was cranial nerve III, 93.75%; cranial nerve VI, 6.25%; cranial nerve VII, 6.25%; and lesion to cranial nerve II in eight cases (50%).
Conclusions: We have suggested that failure in early stages of embryology of the CNS can lead to the development of paralytic strabismus and generate secondary fibrotic changes, not only in muscle structures but also in other orbital tissues. That is the reason why we have used the term “congenital fibrotic strabismus” to report cases included in CCDD. We have demonstrated the strong association of mental retardation and neurological alterations. Multidisciplinary rehabilitation is relevant for these patients.

REFERENCES

1. 1.Traboulsi EI. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. Trans Am Ophthalmol Soc 2004;102:373-388.

2. Prieto-Díaz J, Souza-Dias C. Fibrosis orbitaria. Estrabismo. Buenos Aires: Ediciones Científicas Argentinas; 2005. pp. 466-475.

3. Fells P, Waddell E, Alvares M. Progressive exaggerated A pattern strabismus with presumed fibrosis of extraocular muscles. In: Reinecke RD, ed. Strabismus II, Proceedings of the 4th Meeting of the International Strabismological Association. Asilomar. Orlando: Grune & Stratton; 1984. p. 335.

4. Engle E. The genetic basis of complex strabismus. Pediatr Res 2006;59:343-347.

5. Pieh C, Goebel HH, Engle EC, Gottlob I. Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefes Arch Clin Exp Ophthalmol 2003 241:546-553.

6. 6.Wai-Man C, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, et al. Three novel mutations in KIF21A highlight the importance of the third coiledcoil stalk domain in the etiology of CFEOM 1. BMC Genet 2007;8:1-6.

7. Castanera de Molina A. Surgical correction of the syndrome of “progressive exaggerated A pattern strabismus with presumed fibrosis of extraocular muscles”. Bin Vis S Q 1990;5:201-207.

8. Gómez de Liaño P, Ortega-Usobiaga J, Moreno-García B, Merino-Sanz P. Fells-Waddel-Rodrigues syndrome. In: Jan-Tjeerd de Faber, ed. Transactions 26th Meeting of European Strabismological Association. Barcelona: Swets & Zeitlinger; 2000. pp. 51-54.

9. Jaafar MS, Traboulsi E. Congenital fibrosis of the extraocular muscles. In: Rosenbaum AL, ed. Clinical Strabismus Management. Philadelphia. WB Saunders; 1999. pp. 363-369.

10. 10.Castiella JC, Anguiano M. Síndrome de Fells-Waddel-Rodrígues. Seminario mensual de Oftalmología. España: Universidad de Valladolid; 2001. pp. 1-5.

11. 11.Moguel S, Galán A, Castiella JC. Síndrome de Fells-Waddel. Arch Chil Oftalmol 2006;63:271-276.

12. Demer JL, Clark RA, Engle E. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci 2005;46:530-539.

13. Zaldibar BB, Ruiz TB, Basterrechea TJI, Bermejo de Torres-Solanot MC. Rehabilitación psicomotriz en la agenesia del cuerpo calloso. Rehabilitación 1999;33:236-242.

14. Antonini A, Berlucchi G, Marzi CA, Sprague JM. Importance of corpus callosum for visual receptive fields of single neurons in cat superior colliculus. J Neurophysiol 1979;42:137-152.