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Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis
  1. Debaleena Mukherjee,
  2. Dwaipayan Bhattacharyya,
  3. Alak Pandit and
  4. Souvik Dubey
  1. Neuromedicine, Institute of Postgraduate Medical Education and Research Bangur Institute of Neurology, Kolkata, West Bengal, India
  1. Correspondence to Dr Souvik Dubey; drsouvik79{at}gmail.com

Abstract

Neuronal ceroid lipofuscinosis is a rare childhood neurodegenerative disease, classified under the spectrum of progressive myoclonic epilepsy (PME). Cognitive decline, seizures including myoclonus, vision loss and ataxia are the commonly described manifestations of this illness. While visual failure in this disease is largely attributed to retinal, macular degeneration and optic atrophy, with this index case, we report an atypical presentation in the form of higher order visual dysfunction. The pattern of cognitive regression has further been explored here with higher order visual dysfunction and language regression being the predominant manifestations, stemming from an involvement of bilateral occipitoparietal/occipitotemporal networks. Yet another unique feature of this case also lies in the occurrence of myoclonic-atonic seizure, a semiology rarely reported before in PME.

  • epilepsy and seizures
  • genetics
  • neuro genetics
  • neuroimaging
  • developmental paediatrocs

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Footnotes

  • Contributors DM wrote the first draft and conceptualised it. DB and AP edited it. SD edited and scrutinised it.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.