caso clÍnico 12 - asic
TRANSCRIPT
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CASO CLÍNICO 12
Centro Hospitalar e Universitário de Coimbra 22 de Setembro 2015
CRISTINA DUQUE, IFE 3ºano Neurologia
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ID Sexo feminino, 49A Ptose palpebral bilateral desde 12A
lentamente progressiva blefaroplastia aos 47A
Fraqueza muscular generalizada desde 39A dores musculares agravadas com o esforço
Normal desenvolvimento psicomotor Pais primos em 2º grau, avó materna ptose palpebral bilateral Medicada habitualmente com anti-HTA
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EXAME OBJECTIVO
• Ptose palpebral bilateral diminuição da função do elevador da pálpebra 7mm OU
• Limitação no olhar vertical superior
• Tetraparesia proximal G4
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ESTUDO COMPLEMENTAR I
• CK 355-500 • Painel miasténico negativo • Estudo EMG com ENR normal • Estudo função respiratória normal • Ecocardiograma TT e ECG sem alterações
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ESTUDO COMPLEMENTAR II • Video-oculografia - perseguição
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ESTUDO COMPLEMENTAR II • Video-oculografia - sacadas
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Movimentos Oculares e DHM
Neurology of Eye Movements 5th ed, Leigh and Zee
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Movimentos Oculares e DHM
Neurology of Eye Movements 5th ed, Leigh and Zee
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Movimentos Oculares e DHM
Neurology of Eye Movements 5th ed, Leigh and Zee
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neurocular.com
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Paralisia olhar supranuclear
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Lentificação sacadas horizontais
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Biópsia de músculo
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Estudo cadeia respiratória mitocondrial
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Oftalmoplegia externa progressiva
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Oftalmoplegia externa progressiva • Variante atenuada de doença mitocondrial / OEP plus • Início no adulto-jovem ~17.5A • SINAL CARDINAL: paralisia do olhar vertical e horizontal
com envolvimento simétrico dos músculos extraoculares • Sacadas horizontais e verticais lentas, ganho
perseguição diminuído, sem ROV, ptose bilateral • Progressão para “staring-eyes” • Síndrome Kearn-Sayres, MELAS, MERRF, ARCO
Strupp et al 2015
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FIM.