Lipofuscinosis neuronal ceroidea infantil tardía: Reporte de un caso

Translated title of the contribution: Late infantile neuronal ceroid lipofuscinosis: A case report

Andrade Bañuelos Andrea, Jean Tron Guadalupe, Ortega Ponce Fabiola, Arnold Susan, Rana Said, Islas García David

Research output: Contribution to journalArticle

Abstract

Late infantile neuronal ceroid lipofuscinosis: A case report Among the progressive myoclonic epilepsies, neuronal ceroid lipofuscinosis are rare hereditary conditions that usually affect the pediatric population. These lead to neuro-developmental regression, severe progressive myoclonic epilepsy, ataxia and early death. There are 8 known types of genetic mutations that cause this condition. The diagnosis remains mainly on clinical grounds, with the corroboration by imaging studies such as computed tomography and magnetic resonance imaging, and electrographic findings (EEG). The staining of tissue biopsy and electron microscopy provide excellent ancillary tool. In this article we present a 4-yearold boy whose clinical manifestations including seizure semiology and age of presentation, neurodevelopmental regression, neuroimaging, neurophysiologic and neuropathology data, helped to confirm the diagnosis of late-infantile neuronal ceroid lipofuscinosis.

Translated title of the contributionLate infantile neuronal ceroid lipofuscinosis: A case report
Original languageSpanish
Pages (from-to)44-49
Number of pages6
JournalRevista Mexicana de Neurociencia
Volume14
Issue number1
StatePublished - Jan 1 2013

Keywords

  • Jansky-bielschowsky disease
  • Lysosomal storage disorders
  • Neurodevelopmental regression
  • Neuronal ceroid lipofuscinosis
  • Progressive myoclonic epilepsy

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neurology
  • Clinical Neurology
  • Public Health, Environmental and Occupational Health

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  • Cite this

    Andrea, A. B., Guadalupe, J. T., Fabiola, O. P., Susan, A., Said, R., & David, I. G. (2013). Lipofuscinosis neuronal ceroidea infantil tardía: Reporte de un caso. Revista Mexicana de Neurociencia, 14(1), 44-49.