RESUMEN
We describe a new ocular finding, retinochoroidal atrophy (RCA), associated with optic disk paleness in two adult patients with Angelman syndrome (AS) due to maternal 15q11-13 deletion. The ocular involvement described in children with AS consists iris and choroids hypopigmentation due to loss of function of one copy of P gene involved in maternal deletion. The loss of one copy of the same gene of paternal origin leads to a similar ocular phenotype as in Prader-Willi syndrome (PWS). However to our knowledge, RCA has never been described before in PWS, suggesting that other maternally expressed genes, particularly UBE3A, could be responsible for the retinal changes observed in the adult AS phenotype. Although, further investigations would be necessary to better understand the role of the UBE3A in the retina, the findings reported here should prompt a systematic ophthalmologic evaluation adult patients with AS in order to establish the real incidence of RCA and prevent further disability in these patients.
Asunto(s)
Síndrome de Angelman/diagnóstico , Coroides/patología , Retina/patología , Adulto , Atrofia , Femenino , HumanosRESUMEN
Oculosympathetic function was studied in 20 headache-free migraine patients and in 20 controls. Pupillary investigation was performed under basal conditions, and after instillation of tyramine (2%) and phenylephrine (1%) eyedrops. Each test was performed twice shortly after a spontaneous attack and then repeated after 7 and 15 days. In the patients, the normal mydriatic response induced by tyramine was significantly (p<0.001) reduced and phenylephrine instillation caused a significant (p<0.01) pupillary dilatation in both the assessments performed shortly after the attack. These abnormal responses were bilateral in all patients and slightly anisocoric in some. They were significantly (p<0.001) more pronounced in the patients who had pain and pronounced vascular features. The reduced oculosympathetic response to tyramine, as well as the hypersensitivity to phenylephrine, was less evident 7 days after the attack and absent after 15 days. A transient and bilateral post-ganglionic oculosympathetic hypofunction, with adrenoceptor hypersensitivity, was found to be temporally related to the migraine attack, regardless of the side or predominant side of pain.
Asunto(s)
Trastornos Migrañosos/fisiopatología , Pupila/fisiología , Sistema Nervioso Simpático/fisiopatología , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fenilefrina , Reproducibilidad de los Resultados , TiraminaRESUMEN
Characteristic personality profiles of patients suffering from either migraine headache (MH) or tension type headache (TTH) have been described in the light of Minnesota Multiphasic Personality Inventory (MMPI). In the present study we evaluated personality profile changes following modifications of the painful symptoms after treatment, through the administration of the MMPI to MH and TTH patients. In TTH patients with no clinical improvement the depression scale scores were higher after 6 months of treatment, whereas in MH patients similar scores were observed before and after therapy, thus suggesting a primary role of depression in the onset of pain in the latter patients. Computerized EMG recording of the neck muscle activity showed different patterns of muscle contraction in resting condition and during stress or maximal muscular activity in patients suffering from TTH as compared to MH patients and normal subjects.