کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5632831 1581255 2017 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical ObservationsEarly Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Clinical ObservationsEarly Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family
چکیده انگلیسی

BackgroundCAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward.MethodsWe describe three new patients, a woman and her two sons diagnosed with CAPOS syndrome. A systematic review of literature on previously reported patients was performed.ResultsThe first son presented with acute-onset ataxia, encephalopathy, and sensorineural hearing loss, induced by febrile illness. The second one developed generalized areflexia and mild instability without an acute episode. The mother had been previously diagnosed with sensorineural hearing loss and optic nerve atrophy. The c.2452G>A mutation in ATP1A3 was found in all three patients.ConclusionOnly 25 Individuals with CAPOS syndrome have been reported, including our family. This is the first time a Spanish family has been described. The fact that both siblings were assessed before the first acute-onset episode contributes to the description of early symptoms and signs of the disease, which could aid early diagnosis and management before the onset of acute episodes.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 71, June 2017, Pages 60-64
نویسندگان
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