Giant cell arteritis is a large vessel vasculitis with neurological manifestations that range from visual disturbances to ischemic stroke. Among the former, visual acuity and visual field defects are prevalent, with anterior ischemic optic neuropathy being their most frequent cause. We present a clinical case in which the presenting ocular feature of the disease was a peripheral monocular visual field defect secondary to optic perineuritis.
El sarcoma mieloide es un tumor maligno de localización extramedular consti tuido por células inmaduras de la serie mieloide. Existen varias formas de pre sentación clínica. La más frecuente aparece en pacientes con leucemia mieloide aguda (LMA) conocida. Las localizaciones más frecuentes son: piel (28%), gan glios linfáticos (18.3%), intestino (6.5%), hueso (3.2%) y sistema nervioso cen tral (3.2%); y con menor frecuencia: peritoneo, sistema genitourinario, orofarin ge. De su lugar de asentamiento dependerá su expresión clínica. En el contexto de un paciente con enfermedad hematológica, el sarcoma mieloide será consi derado como presentación extramedular (aisladacombinada) y se trata con forme a dicha situación. Se describen seis casos de sarcoma mieloide como re caída de enfermedad en pacientes con antecedente de LMA.
Owing to their anatomical characteristics, fontanelles are a true window to the inside of the skull, which determines their multiple clinical and surgical applications.
Hereditary spastic paraplegias are an uncommon group of monogenic diseases that include 79 types of genetic disorders. The most frequent cause of recessive hereditary spastic paraplegia is a mutation in the spastic paraplegia gene type 11 followed by type 15. This group is usually associated with non-specific clinical features like cognitive decline and may precede the progressive weakness and spasticity of lower limbs. The magnetic resonance imaging hallmark of hereditary spastic paraplegia is thinning of the spinal cord. However, brain magnetic resonance imaging may provide relevant clues for specific hereditary spastic paraplegia subtypes, and thinning of the corpus callosum has been described as the most frequent abnormality in almost one-third of recessive hereditary spastic paraplegias. Moreover, a characteristic abnormality affecting the forceps minor of the corpus callosum has been recently reported as the “ears of the lynx” sign and is highly suggestive of type 11 and 15 hereditary spastic paraplegias. We report a patient who was diagnosed with hereditary spastic paraplegia type 11 by exome genetic testing, presenting the ears of the lynx sign in the first magnetic resonance imaging assessment.
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