Commentary: A Boy With Spells Of Unusual Movements After Failure In Exam

This report describes a 16-year-old boy with a history of relatively well-controlled seizures who developed unusual frequent, brief paroxysmal episodes combining abnormal posturing and painful muscle contraction involving the jaw and right hand.1 These events may be akin to tonic spasms seen in a variety of central nervous system processes, such as multiple sclerosis. Between episodes, he demonstrated mild abnormal dystonic-like posturing in the right hand and low amplitude myoclonic jerks in the fingers. Brain imaging revealed a multifocal process not respecting vascular territories with changes suggestive of gyral necrosis (the “black toenail sign”).2 The important imaging clue combined with further investigation confirmed a diagnosis of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS). The manifestations of MELAS are protean, including a variety of paroxysmal and persistent movement disorders (Video 1). The finding of the black toenail sign of gyral necrosis was an important clue in this patient that led to the correct diagnosis.3 (1) Research Project: A. Conception, B. Organization, C. Execution; (2) Statistical Analysis: A. Design, B. Execution, C. Review and Critique; (3) Manuscript Preparation: A. Writing of the First Draft, B. Review and Critique. A.E.L.: 3A D.D.: 1A, 1B, 1C, 3B S.D.: 1A, 1B, 1C, 3B K.D.S.: 3B The authors confirm that neither informed patient consent nor the approval of an institutional review board was necessary for this work. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this work is consistent with those guidelines. No specific funding was received for this work. The authors declare that there are no conflicts of interest relevant to this work. A.E.L. has served as an advisor for AbbVie, Acorda, AFFiRis, Biogen, Denali, Janssen, Lilly, Lundbeck, Maplight, Paladin, Retrophin, Roche, Sun Pharma, Sunovion, Theravance, and Corticobasal Degeneration Solutions; received honoraria from Sun Pharma, AbbVie and Sunovion; received grants from Brain Canada, Canadian Institutes of Health Research, Corticobasal Degeneration Solutions, Edmond J Safra Philanthropic Foundation, The Michael J. Fox Foundation, the Ontario Brain Institute, Parkinson Foundation, Parkinson Canada, and W. Garfield Weston Foundation; received publishing royalties from Elsevier, Saunders, Wiley-Blackwell, Johns Hopkins Press, and Cambridge University Press. D.D. and S.D. have no financial disclosures for previous 12 months. K.D.S. is an advisor for Neurocrine and has received honoraria from the same company.