Benign sleep myoclonus in neonate: a diagnostic dilemma for neonatologist.
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ABSTRACT:
SUBMITTER: Sharma D
PROVIDER: S-EPMC4208109 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Publications
Benign sleep myoclonus in neonate: a diagnostic dilemma for neonatologist.
Sharma Deepak D Murki Srinivas S Pratap Oleti Tejo OT
BMJ case reports 20141020
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Project description:BackgroundA myriad of disorders combine myoclonus and ataxia. Most causes are genetic and an increasing number of genes are being associated with myoclonus-ataxia syndromes (MAS), due to recent advances in genetic techniques. A proper etiologic diagnosis of MAS is clinically relevant, given the consequences for genetic counseling, treatment, and prognosis.ObjectivesTo review the causes of MAS and to propose a diagnostic algorithm.MethodsA comprehensive and structured literature search following PRISMA criteria was conducted to identify those disorders that may combine myoclonus with ataxia.ResultsA total of 135 causes of combined myoclonus and ataxia were identified, of which 30 were charted as the main causes of MAS. These include four acquired entities: opsoclonus-myoclonus-ataxia syndrome, celiac disease, multiple system atrophy, and sporadic prion diseases. The distinction between progressive myoclonus epilepsy and progressive myoclonus ataxia poses one of the main diagnostic dilemmas.ConclusionsDiagnostic algorithms for pediatric and adult patients, based on clinical manifestations including epilepsy, are proposed to guide the differential diagnosis and corresponding work-up of the most important and frequent causes of MAS. A list of genes associated with MAS to guide genetic testing strategies is provided. Priority should be given to diagnose or exclude acquired or treatable disorders.
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