RESUMEN
A-46-year-old woman with a prior history of a spontaneously resolving right central retinal artery occlusion presented with an acute right third order Horner's syndrome and vague ocular pain. Magnetic resonance angiography demonstrated a right internal carotid artery dissection. The dissection improved on anticoagulation therapy. Marfans syndrome or Ehlers-Danlos syndrome was suspected but ruled out by clinical criteria and skin biopsy respectively.
Asunto(s)
Enfermedades de las Arterias Carótidas/diagnóstico , Síndrome de Horner/diagnóstico , Oclusión de la Arteria Retiniana/etiología , Anticoagulantes/uso terapéutico , Enfermedades de las Arterias Carótidas/complicaciones , Enfermedades de las Arterias Carótidas/terapia , Arteria Carótida Interna/patología , Diagnóstico Diferencial , Síndrome de Ehlers-Danlos/diagnóstico , Femenino , Heparina/uso terapéutico , Síndrome de Horner/etiología , Síndrome de Horner/terapia , Humanos , Angiografía por Resonancia Magnética , Síndrome de Marfan/diagnóstico , Persona de Mediana Edad , Dolor/etiología , Oclusión de la Arteria Retiniana/fisiopatología , Factores de TiempoRESUMEN
Ten consecutive patients with acute relative pupillary sparing third nerve palsies were enrolled in a prospective study to determine the prevalence of intracranial aneurysm. All patients were imaged with either cerebral angiography or magnetic resonance angiography. None of the patients demonstrated an intracranial aneurysm. The prevalence of aneurysm in patients with relative pupillary sparing third nerve palsies may be low enough to preclude the use of routine angiography in this condition.
Asunto(s)
Aneurisma Intracraneal/diagnóstico , Enfermedades del Nervio Oculomotor/complicaciones , Pupila , Enfermedad Aguda , Anciano , Arteria Carótida Interna/diagnóstico por imagen , Angiografía Cerebral , Movimientos Oculares , Femenino , Humanos , Aneurisma Intracraneal/complicaciones , Angiografía por Resonancia Magnética , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Prospectivos , Arteria Vertebral/diagnóstico por imagenRESUMEN
OBJECTIVE: To determine the frequency of known primary mitochondrial DNA (mtDNA) mutations for Leber's hereditary optic neuropathy (LHON) in patients previously diagnosed as having tobacco-alcohol amblyopia. DESIGN: A case series of 12 patients with tobacco-alcohol amblyopia. Follow-up ranged from 2 months to 15 years. SETTING: Tertiary care. PATIENTS: Twelve patients diagnosed as having tobacco-alcohol amblyopia, based on the classic clinical presentation, were tested for all the known primary mtDNA mutations associated with LHON. All patients had a history of heavy alcohol or tobacco use or both. Twelve other patients who fit inclusion criteria were unable to be contacted or refused to participate in the study. MAIN OUTCOME MEASURES: Presence of a known primary mutation for LHON at nucleotide positions 11778, 3460, 15257, or 14484 of mtDNA. RESULTS: Two (17%) of 12 patients previously diagnosed as having tobacco-alcohol amblyopia tested positive for known LHON genetic mutations, one for the 11778 mutation and one for the 3460 mutation. CONCLUSIONS: The diagnosis of LHON should be considered in all patients diagnosed as having tobacco-alcohol amblyopia, particularly those with visual acuities of 20/200 or less. The availability of molecular genetic testing for LHON now allows confirmation of the diagnosis of LHON in patients who otherwise may be misdiagnosed.