RESUMO
Discordant elevations of cerebrospinal fluid (CSF) human immunodeficiency virus (HIV) ribonucleic acid (RNA) in chronically treated patients known as 'CSF escape' may present as acute encephalitis. Infectious encephalitis caused by herpes simplex virus (HSV) and other neurotropic viruses have been identified as potential triggers of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. Autoantibody-mediated encephalitis has been infrequently reported in HIV infected patients and may mimic HIV encephalitis. We report two adults infected with HIV presenting with encephalopathy and seizures. Case 1 had a monophasic encephalopathy with detection of NMDAR antibodies in the context of HIV CSF escape. There was a clinical response to immunotherapy and anti-retroviral therapy adjustment. Case 2 initially presented in non-convulsive status epilepticus associated with HIV CSF escape. He responded to treatment with anti-epileptic drugs and anti-retroviral therapy alteration, but had two further neurological relapses. NMDAR antibodies were detected during the relapses and a clinical response was observed following treatment with immunotherapy. Clinicians should consider autoimmune encephalitis in HIV infected patients presenting with encephalopathy and seizures, particularly in cases with concomitant HIV CSF escape.
Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Encefalite Antirreceptor de N-Metil-D-Aspartato/etiologia , Infecções por HIV/líquido cefalorraquidiano , Infecções por HIV/complicações , Estado Epiléptico/etiologia , Adulto , Humanos , Imunoterapia , Masculino , Pessoa de Meia-IdadeRESUMO
Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive. A subsequent review of the right deltoid biopsy, long exercise testing and repeated family history was helpful, followed by appropriate genetic testing. We identified a heterozygous pathogenic mutation in calcium ion channel (CACNA1S:c.1583G>A p.Arg528His) causing hypokalaemic periodic paralysis. Myopathy can present without episodic paralysis and the frequency of paralytic episodes does not correlate well with the development and progression of a fixed myopathy. Our report also highlights the intrafamilial phenotypic variation of hypokalaemic periodic paralysis secondary to a CACNA1S gene mutation.
Assuntos
Saúde da Família , Paralisia Periódica Hipopotassêmica/fisiopatologia , Idoso , Canais de Cálcio/genética , Feminino , Humanos , Paralisia Periódica Hipopotassêmica/diagnóstico por imagem , Paralisia Periódica Hipopotassêmica/genética , Imageamento por Ressonância Magnética , Mutação/genética , FenótipoRESUMO
AIMS: The aim of this study was to determine the prevalence of amnesia for loss of consciousness (A-LOC) in those who have a history suggestive of vasovagal syncope (VVS) and who develop syncope on head-up tilt (HUT) table testing. Furthermore, we wished to determine if A-LOC is an age-dependent phenomenon in VVS and whether haemodynamic parameters on tilting can predict for A-LOC. METHODS AND RESULTS: Patients were recruited in a dedicated syncope unit and underwent neurocardiovascular evaluation as indicated under European Society of Cardiology guidelines to illicit a diagnosis of VVS. A set protocol of questioning occurred following induced syncope to determine the presence of A-LOC. The prevalence of A-LOC following syncope on tilting was 28% (44/159). Forty-two per cent of those≥60 years of age vs. 20%<60 years of age experienced amnesia post-induced syncope (P=0.003). However, regression analysis did not show age to be an independent predictor for A-LOC. Blood pressure change between those without amnesia and those with amnesia showed no significant difference (P=0.687). There was a significant difference in heart rate response; those experiencing amnesia had reduced bradycardic response on HUT compared with those without amnesia (P=0.001). CONCLUSION: Amnesia for loss of consciousness is common in VVS. Although more prevalent, it is not unique to older age-groups. Absence of syncope associated bradycardia during HUT testing predicts for A-LOC.