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Cryptogenic stroke in a young patient with heart disease and kidney failure

B. Oyanguren, R. Segoviano, E. Alegría, E. Besada, M. González-Salaices, M. Eimil-Ortiz, C. López de Silanes [REV NEUROL 2017;64:454-458] PMID: 28497441 DOI: https://doi.org/10.33588/rn.6410.2016498

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Volumen 64 | Number 10 | Nº of views of the article 5.628 | Nº of PDF downloads 208 | Article publication date 16/05/2017

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ABSTRACT

INTRODUCTION Fabrys disease is an infrequent metabolic pathology linked to the X chromosome which causes a wide variety of signs and symptoms.

CASE REPORT A 39-year-old male who was admitted to our stroke unit with right-side hemiparesis (1 + 0) and dysarthria (1). The score on the National Institute of Health Stroke Scale was 2. The patient presented angiokeratomas in both thighs. A computerised axial tomography scan of the head showed left thalamic acute infarction. The duplex scan of the supra-aortic trunks was normal, and the transcranial Doppler reflected a generalised increase in the pulsatility indices. Transthoracic echocardiography showed left ventricular hypertrophy and left atrial dilatation. He was discharged five days later, with antiaggregating medication but asymptomatic. The prolonged Holter-electrocardiogram recording showed paroxysmal atrial fibrillation. One notable value in the urine analysis was microalbuminuria of 281 mg/L. In view of the multi-organic involvement and the family history, a study for Fabrys disease was performed. Activity of the enzyme alpha-galactosidase A was diminished, and the presence of a mutation in the GLA gene was found. The patients brother, who suffered from kidney failure and atrial fibrillation, was positive for this mutation. The patient is on treatment with agalsidase beta.

CONCLUSIONS Fabrys disease must be suspected in young males with heart disease, stroke or peripheral neuropathy, skin lesions, kidney failure and a history of cases in the family. Hormone replacement therapy must be established at an early stage, as it can improve the prognosis. KeywordsFabrys disease Glycolipids X-linked inheritance Heart disease Kidney failure Stroke CategoriesNeuropediatría Patología vascular

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Cryptogenic stroke in a young patient with heart disease and kidney failure