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Prekallikrein deficiency presenting as recurrent cerebrovascular accident: case report and review of the literature.

ABSTRACT: We report the case of a woman with history of hypertension and hyperlipidemia presenting with recurrent episodes consistent clinically with cerebrovascular accidents (CVA), and MRI changes suggestive of ischemia versus vasculitis as their cause. No anatomical neurological, rheumatic, cardioembolic, or arteriosclerotic etiologies could be determined by extensive workup. Incidentally, the patient was found to have prolonged activated Partial Thromboplastin Time (aPTT) and a normal Prothrombin Time (PT); further testing revealed a prekallikrein deficiency. Since no other cause for the CVAs was established, and other prothrombotic states were ruled out, it is proposed that they are clinical manifestations derived from the prekallikrein deficiency, which in a patient with known cardiovascular risk factors could lead to thrombotic complications such as stroke.

SUBMITTER: Bojanini EU

PROVIDER: S-EPMC3431062 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Prekallikrein deficiency presenting as recurrent cerebrovascular accident: case report and review of the literature.

Bojanini Esteban Uribe EU Loaiza-Bonilla Arturo A Pimentel Agustin A

Case reports in hematology 20120816

We report the case of a woman with history of hypertension and hyperlipidemia presenting with recurrent episodes consistent clinically with cerebrovascular accidents (CVA), and MRI changes suggestive of ischemia versus vasculitis as their cause. No anatomical neurological, rheumatic, cardioembolic, or arteriosclerotic etiologies could be determined by extensive workup. Incidentally, the patient was found to have prolonged activated Partial Thromboplastin Time (aPTT) and a normal Prothrombin Time ...[more]

PMID: 22953077

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Project description:RationaleNeurosyphilis presenting as limbic encephalitis (LE) is an important differential diagnosis of autoimmune LE (ALE) defined by Graus in 2016. However, data on the clinical differences and similarities between neurosyphilis presenting as LE and ALE are limited. Herein, we report neurosyphilis presenting as ALE that fulfilled the main items of the Graus ALE criteria. Moreover, a literature review of neurosyphilis presenting as LE was performed.Patient concernsA 66-year-old Japanese man developed nonconvulsive status epilepticus. He presented with progressive personality change and working memory deficits within 3 months prior to admission. A hyperintense lesion localized in the bilateral medial temporal area was observed on T2-weighted fluid-attenuated inversion recovery brain magnetic resonance imaging. Cerebrospinal fluid analysis showed mild pleocytosis and the presence of oligoclonal band. However, in-house assays did not detect antineuronal antibodies. Electroencephalogram showed lateralized rhythmic delta activity in the right temporal area. The serum and cerebrospinal fluid serological and antigen tests for syphilis had positive results.DiagnosisALE was initially suspected based on the patient's symptoms and ancillary test findings that fulfilled the Graus ALE criteria. However, based on the positive confirmatory test results for syphilis, a diagnosis of neurosyphilis was eventually made.InterventionThe patient received intravenous midazolam, oral levetiracetam, and lacosamide to control nonconvulsive status epilepticus. In addition, he was treated with intravenous benzylpenicillin at a dose of 24 million units/day for 14 days.OutcomesThe patient's cognitive function relatively improved after antibiotic treatment. However, he presented with persistent mild working memory deficit, which was evaluated with the Wechsler Adult Intelligence Scale, 3rd edition. Therefore, on day 103 of hospitalization, he was transferred to another hospital for rehabilitation and long-term care due to limitations in performing activities of daily living.LessonsThe present case was diagnosed with neurosyphilis presenting as ALE, but meanwhile, in most case, neurosyphilis presenting as LE developed at a slower progressive rate, and it had a broader or restricted involvement on brain MRI than ALE based on the literature review. Therefore, an appropriate differential diagnosis of LE can be obtained by identifying clinical differences between the 2 conditions.

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Prekallikrein deficiency presenting as recurrent cerebrovascular accident: case report and review of the literature.

Publications

Prekallikrein deficiency presenting as recurrent cerebrovascular accident: case report and review of the literature.

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