RESUMEN
Two brothers developed hemifacial spasm at 63 and 70 years of age. Spasms occurred on the left and right sides of the face, respectively. Computed tomography scan and magnetic resonance imaging failed to show any abnormality. In addition, a third sibling reported a history of a peripheral facial palsy, which remitted spontaneously without sequelae. This is the fourth description of familial hemifacial spasms. This family is unique in that hemifacial spasm presented on different sides in the two brothers, and involvement was limited to one generation. Age at onset was later than for other familial cases and similar to sporadic cases.
Asunto(s)
Músculos Faciales/inervación , Enfermedades del Nervio Facial/genética , Lateralidad Funcional/genética , Trastornos del Movimiento/genética , Espasmo/genética , Anciano , Enfermedades del Nervio Facial/fisiopatología , Lateralidad Funcional/fisiología , Humanos , Masculino , Trastornos del Movimiento/fisiopatología , Contracción Muscular/genética , Contracción Muscular/fisiología , Examen Neurológico , Linaje , Espasmo/fisiopatologíaRESUMEN
All patients with Aicardi syndrome are female or have a 47,XXY karyotype. This finding, along with a report of an Aicardi syndrome patient with an Xp22/autosome translocation, led to the hypothesis that Aicardi syndrome might be caused by an X-linked dominant, male-lethal mutation on the short arm of the X chromosome. To study this hypothesis, we investigated X chromosome inactivation patterns in peripheral lymphocytes from seven patients. We used two methods: methylation-sensitive restriction enzyme analysis and segregation of the active X chromosome in somatic cell hybrids. We found that three of seven cytogenetically normal girls with Aicardi syndrome had profoundly skewed X-inactivation in their lymphocytes, supporting the concept that Aicardi syndrome is X linked. Three of the five girls with the greatest degree of psychomotor retardation and the poorest seizure control had skewed X-inactivation. In contrast, the two highest-functioning children had random X-inactivation. We screened DNA using eight polymorphic probes from the Xp22 region but were unable to identify a deletion in any of the seven patients. Nonrandom X-inactivation in lymphocytes and possibly other tissues in some, but not all, patients with Aicardi syndrome may reflect heterogeneity of their molecular lesions.
Asunto(s)
Agenesia del Cuerpo Calloso , Discapacidad Intelectual/genética , Espasmo/genética , Cromosoma X , Southern Blotting , Niño , Preescolar , Deleción Cromosómica , Mapeo Cromosómico , ADN/análisis , Sondas de ADN , Femenino , Heterocigoto , Humanos , Lactante , Polimorfismo de Longitud del Fragmento de Restricción , Síndrome , Cromosoma X/análisisRESUMEN
The nonrandom association of congenital ichthyosis with neurologic impairment, ectodermal dysplasia, dwarfism, hypogonadism, and renal disease has prompted the review of numerous syndromes. The difficulties in characterization of syndromes in the absence of pathognomonic signs is discussed in relation to three siblings presented herein. Despite extensive investigation, underlying metabolic defects remain obscure.