Síndrome de Leigh causado por la mutación G14459A del ADN mitocondrial en una familia mexicana / Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a mexican family

Introducción. El síndrome de Leigh es una enfermedad neurodegenerativa y progresiva, de aparición en la infancia, que está causada por defectos tanto en el genoma nuclear como en el mitocondrial. La mutación G14459A del ADN mitocondrial se ha asociado con anterioridad a la neuropatía óptica hereditaria de Leber y recientemente al síndrome de Leigh. Caso clínico. Niña mexicana de 10 meses de edad diagnosticada, después de un seguimiento clínico, neurológico y radiológico, de síndrome de Leigh. Se le realizó el análisis de mutaciones puntuales en el ADN mitocondrial asociadas a este síndrome, y se encontró la mutación G14459A en un porcentaje próximo a la homoplasmia y en heteroplasmia en la madre. El resto de familiares relacionados por vía materna carecen de la mutación. Conclusión. La mutación G14459A, aunque poco frecuente en la patología, debe de estudiarse en pacientes con síndrome de Leigh que no presentan las mutaciones puntuales más comunes (AU)

Introduction. Leigh syndrome is a neurodegenerative and progressive disease that appears usually in childhood due to defects in nuclear or mitochondrial genome. The mutation G14459A in mitochondrial DNA has been associated previously to Leber hereditary optic neuropathy and recently to Leigh syndrome. Case report. A 10 months-old Mexican girl diagnosed of Leigh syndrome. Molecular-genetic studies detected the mutation G14459A in a percentage close to homoplasmy and in low heteroplasmy in her mother. The rest of the maternally related family members analyzed were negative. Conclusion. The G14459A mutation, although not very frequently associated to Leigh syndrome, should be analyzed in patients that do not present the most common point mutations (AU)

[Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family]. / Síndrome de Leigh causado por la mutación G14459A del ADN mitocondrial en una familia mexicana.

INTRODUCTION: Leigh syndrome is a neurodegenerative and progressive disease that appears usually in childhood due to defects in nuclear or mitochondrial genome. The mutation G14459A in mitochondrial DNA has been associated previously to Leber hereditary optic neuropathy and recently to Leigh syndrome. CASE REPORT: A 10 months-old Mexican girl diagnosed of Leigh syndrome. Molecular-genetic studies detected the mutation G14459A in a percentage close to homoplasmy and in low heteroplasmy in her mother. The rest of the maternally related family members analyzed were negative. CONCLUSION: The G14459A mutation, although not very frequently associated to Leigh syndrome, should be analyzed in patients that do not present the most common point mutations.

[Botulin toxin as treatment for spasticity and dystonia in infantile cerebral paralysis]. / Toxina botulínica como tratamiento de la espasticidad y distonía en la parálisis cerebral infantil.

UNLABELLED: Treatment of spasticity and dystonía in PCI with Botulinum toxin A. BACKGROUND: Botulinum-A (NxTxBoA) toxin produce neuromuscular blockade, it has been effective with therapeutic purposes in strabismus, focal dystonias and spasticity. OBJECTIVE: Evaluate the therapeutically effects off NxTxBoA in cerebral palsy (CP) spastic and/or dystonic in children. Prospective study. MATERIAL AND METHODS: 12 CP patients (8 spastic and 4 spastic/dystonic) were treated with NxTxBoA in affected muscles at least for 2 doses by up 12 months. The indication was: improve limb function, to avoid surgical correction or improve hygienic or dressing. Ashworth Spasticity Scale (ASS), functional scale for Dystonic Sindou-Millet (SMS) and O'Brien Global Assessment Scale (OGAS) were used to evaluate improvement. STATISTICAL METHODS: No parametric tests, Wilcoxon's rang's test and sign test were used with p < 0.05. RESULTS: Total doses session was 3-10 U/kg. AAS showed muscle spasticity improvement in two grades in 8 patients, and one grade in the rest (p = 0.004). SMS showed the muscle dystonic improve up 60% in two patients improve 50% in others (p = 0.006). OGAS demonstrated a good correlation. Mean treatment effect during 4.8 months (rank 4 to 10 m). Two patients had side effects, general weakness, instability, and focal haematoma. CONCLUSIONS: Botulinum toxin type A proved a highly useful adjuvant therapy and conservative management in CP.