RESUMEN
The course of Cockayne syndrome is reported in two sisters over a period of 14 years. Both girls developed characteristic clinical signs early. Reaching the second decade progeria and psychomotor deficits progressed quickly with a marked mental decline brought about by the cerebral destruction which is demonstrated by successive CT und MRI scan. The effects of defective DNA repair mechanisms on progeria and mental deterioration are discussed and differential diagnoses are shown.
Asunto(s)
Síndrome de Cockayne/genética , Examen Neurológico , Adolescente , Encéfalo/patología , Niño , Preescolar , Síndrome de Cockayne/diagnóstico , Reparación del ADN/genética , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Vaina de Mielina/patología , Tomografía Computarizada por Rayos XRESUMEN
Two children with progressive facial atrophia are described. In both asymmetria of the face was the reason for neuropediatric examination. Discrete neurological symptoms of this neurocutaneous syndrome were found. In patient 1 atrophia of one side of the face had developed shortly after surgical treatment of a mandibular exostose on the other side of the face. In patient 2 first signs of hemifacial atrophia were found in the newborn. Both children showed only discrete neurological symptoms. Etiology of this rare disease is still unknown, causal treatment is not possible.
