Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1

Debaleena Mukherjee; Sougata Bhattacharya; Srimant Pattnaik; Subhadeep Gupta; Biman Kanti Ray; Atanu Biswas

doi:https://doi.org/10.14802/jmd.20119

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저자정보: Debaleena Mukherjee (Institute of Post Graduate Medical Education & Research (IPGME&R)) Sougata Bhattacharya (Institute of Post Graduate Medical Education & Research (IPGME&R)) Srimant Pattnaik (Institute of Post Graduate Medical Education & Research (IPGME&R)) Subhadeep Gupta (Institute of Post Graduate Medical Education & Research (IPGME&R)) Biman Kanti Ray (Institute of Post Graduate Medical Education & Research (IPGME&R)) Atanu Biswas (Institute of Post Graduate Medical Education & Research (IPGME&R))

저널정보: 대한파킨슨병및이상운동질환학회 Journal Of Movement Disorders Journal Of Movement Disorders Vol.14 No.3

발행연도: 2021.9

수록면: 256 - 258 (3page)

DOI: https://doi.org/10.14802/jmd.20119

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Progressive myoclonic ataxia (PMA) is a rare disorder characterized by progressive ataxia and myoclonus, without significant cognitive decline and with or without infrequent seizures [1]. It is often difficult to distinguish PMA from progressive myoclonic epilepsy (PME), another rare entity characterized by a constellation of features including ataxia, myoclonus, cognitive decline, and seizures with or without other neurological deficits [2]. While ataxia and myoclonus are common features, the severity of seizures and cognitive decline appear to be the major differentiating points. Here, we describe a genetically proven sialidosis type 1 patient with overlapping features of the two syndromes. Additionally, our patient had psoriasis, which has never been reported before in sialidosis.

#Ataxia and Myoclonus

참고문헌 (7)

참고문헌 신청

van der Veen S / 2018 / Progressive myoclonus ataxia : time for a new definition / Mov Disord 33:1281~1286

Satishchandra P / 2010 / Progressive myoclonic epilepsy / Neurol India 58:514~522

Orphanet / Fotolia

Marsden CD / 1989 / Viewpoints on the Ramsay Hunt syndrome. The Ramsay Hunt syndrome is a useful clinical entity / Mov Disord 4:6~12

Finsterer J / 2017 / Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A >G tRNA (Lys) mutation / Iran J Neurol 16:45~49

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