RESUMO
A 70-year-old Japanese man with amyloid polyneuropathy associated with a Val 107 transthyretin (TTR) mutation is reported. The patient presented with carpal tunnel syndrome, cardiomyopathy, bulbar palsy, dysphonia and polyneuropathy. DNA analysis of the TTR gene revealed a point mutation responsible for substitution of valine for isoleucine at position 107 of the TTR molecule. Taken together with reports of patients with the same TTR variant, Val 107 TTR mutation is probably associated with a clinical phenotype characterized by carpal tunnel syndrome, cardiomyopathy, bulbar palsy and dysphonia. This case implies a worldwide distribution of the Val 107 TTR mutation with a common clinical phenotype, despite different ethnic background.
Assuntos
Neuropatias Amiloides Familiares/genética , Mutação Puntual , Pré-Albumina/genética , Idoso , Substituição de Aminoácidos , Neuropatias Amiloides Familiares/complicações , Neuropatias Amiloides Familiares/fisiopatologia , Paralisia Bulbar Progressiva/complicações , Paralisia Bulbar Progressiva/patologia , Cardiomiopatias/complicações , Cardiomiopatias/diagnóstico por imagem , Síndrome do Túnel Carpal/complicações , Síndrome do Túnel Carpal/patologia , Ecocardiografia , Humanos , Masculino , Mutação Puntual/genética , Distúrbios da Voz/complicações , Distúrbios da Voz/fisiopatologiaRESUMO
We reported a 31 year-old man with repeated episodes of migraine at a frequency of about once a week on and after January, 2000. In January 2001, scintillating scotoma and pulsating headache appeared followed by left hemianopsia. His platelet count decreased to 80,000/microliter and high intensity areas were observed in the right occipital lobe and hippocampal gyrus on the FLAIR image of brain MRI. Subsequently performed brain MRA and vertebral angiography revealed segmental stenosis and obstruction in the right posterior cerebral artery. Under the diagnosis of migrainous infarction, sodium ozagrel and lomerizine hydrochloride were administered. Idiopathic thrombocytopenic purpura was additionally diagnosed based on the decreased platelet count which was then treated with predonisolone. After these treatment, his migraine attack disappeared. In this patient, platelet destruction due to idiopathic thrombocytopinic purpura and subsequent release of serotonin seemed to have involved in the occurrence of migrainous infarction.
Assuntos
1-Naftilamina/análogos & derivados , Infarto Cerebral/etiologia , Transtornos de Enxaqueca/etiologia , Púrpura Trombocitopênica Idiopática/complicações , 1-Naftilamina/uso terapêutico , Adulto , Plaquetas/metabolismo , Humanos , Masculino , Metacrilatos/uso terapêutico , Prednisolona/uso terapêutico , Púrpura Trombocitopênica Idiopática/sangue , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Púrpura Trombocitopênica Idiopática/fisiopatologia , Serotonina/metabolismo , Resultado do TratamentoRESUMO
A 58-year-old woman presented, conjugate upgaze palsy and monocular paresis of downward gaze in the ipsilateral eye (vertical one-and-a-half syndrome; VOHS) as well as seesaw nystagmus (SSN). Vertical oculocephalic response and conjugate horizontal gaze were preserved. Magnetic resonance imaging revealed a right thalamo-mesencephalic infarction including the rostral interstitial nucleus of the medial longitudinal fasciculus (riMLF) and the interstitial nucleus of Cajal. On the 22nd hospital day SSN was disappeared, and then on the 32nd day VOHS was improved. The lesions of VOHS may have affected the efferent tracts of riMLF and the descending fibres to the ipsilateral subnucleus of the inferior rectus and contralateral subnucleus of the superior oblique. Furthermore, it was assumed that SSN was caused simultaneously by a lesion in the interstitial nucleus of Cajal existing in the adjacent area of riMLF.