Resumen

ESMER, Carmen; SALAZAR MARTINEZ, Abel; RENTERIA PALOMO, Enrique  y  BRAVO ORO, Antonio. Clinical and molecular findings in a patient with ataxia with vitamin E deficiency, homozygous for the c.205-1G>C mutation in the TTPA gene. Bol. Med. Hosp. Infant. Mex. [online]. 2013, vol.70, n.4, pp.314-319. ISSN 1665-1146.

Background. Ataxia with vitamin E deficiency is a disorder caused by mutations in the TTPA gene. Common symptoms include ataxia, areflexia, head titubation, loss of proprioception, Babinsky sign, dysdiadochokinesia, pigmentary retinopathy and cardiomyopathy. Case report. The patient was the first child of consanguineous parents. She presented at 10 years of age due to bilateral lower limb pain and numbness and difficulty in speech, writing and chewing. Physical examination showed dysarthria, diminished distal strength, hyperreflexia, positive Babinsky sign, decreased proprioception, pes cavus, dysmetria, dysdiadochokinesia and positive Romberg sign. Genetic screening for the Friedreich's ataxia gene resulted negative, α-tocopherol levels were low and TTPA gene sequentiation detected the homozygous mutation c.205-1G >C in intron 1. Treatment was initiated with vitamin E, showing improvement of symptoms. Conclusions. The presence of Friedreich's ataxia-like phenotype suggests the need to perform tests of plasma levels of α-tocopherol and the confirmatory genetic test. Treatment with vitamin E decreases symptoms in both affected and presymptomatic individuals. Few patients have been described in America, and our case showed a homozygous mutation outside of high-prevalence areas. Clinical findings of this patient and a previous case would indicate that the c.205-1G>C mutation is associated with severe symptoms.

Palabras llave : alfa-tocopherol; recessive ataxia; TTPA gene; vitamin E.