Síndrome de Sotos asociado a distonía focal
Summary. ntroduction. Sotos svndrome is aform ofinfantile gigantism characterized by excessive body size from the time o birth, particular facies, acromegalic changes and signs ofnon-progressive cerebral involvement. The etiology is unknown. Diagnosis is based on somatometric data and the particularphenotype traits. Biochemical and endocrine studies are normnal Torticollis is a focal dvstonia and therefore more common in adults. Climnical case. A 20 vear old woman with macrosomic features since birthpresented with: weight 104 kg, height 182 cm, prognathism, hypertelorism, a broad overhangingforeheaa with a high hair line; large ears, hands and feet, torticollis towards the right with elevation and anteroversion ofthe righi shoulder which causedsymptomatic scoliosis. She was bradpsvchic and ratherslow in speech. The complementarvtests done (cerebral and cervical CTand MR, bone gammography, evoked potentials, EMG-ENG, suralnerve biopsv, biopsvofskin ana muscle, EEG and hormone and biochemistrystudies werenormal. The torticollis was treated with botulimus toxin and improved considerabhv,. as did the scoliosis. Conclusions. To date, dustonia has not been described in association with Sotos svndrome This mav be a casual association, or eve perhaps hereditarv, since the patient's mother had dustonia in the form of ble pharospasm)
Caso clínico Mujer de 20 años, con rasgos macrosómicos desde el nacimiento. Actualmente presenta: peso de 104 kg, talla de 182 cm; prognatismo, hipertelorismo, frente ancha y abombada con implantación alta del cabello; orejas, manos y pies aumentados de tamaño; tortícolis hacia la derecha con elevación y anteroversión del hombro derecho produciendo una escoliosis sintomática. Bradipsiquia y lenguaje algo lento. Las exploraciones complementarias realizadas (TAC y RM cerebral y cervical, gammagrafía ósea, potenciales evocados, EMG-ENG, biopsia del nervio sural, biopsia de piel y músculo, EEG y estudios hormonales y bioquímicos) fueron normales. El tortícolis ha sido tratado con toxina botulínica, con notable mejoría del mismo y de la escoliosis.
Conclusiones En el síndrome de Sotos no se ha descrito hasta ahora la existencia de distonía. Puede ser una asociación casual, e incluso una forma hereditaria, ya que la madre de la paciente presenta una distonía en forma de blefarospasmo
