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  • Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses.

Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses.

Neurology India (2012-07-25)
Mahesh Kamate, Gowda P Prashanth, Virupaxi Hattiholi
摘要

Neuronal ceroid lipofuscinosis is a group of progressive neurodegenerative disorders characterized by accumulation of ceroid lipopigment in lysosomes in neurons and other cell types. This study is a retrospective review of charts of patients with a diagnosis of infantile and late-infantile neuronal ceroid lipofuscinosis seen between January 2009 and December 2011. Of the 16 patients, 5 had infantile type and 11 had late-infantile neuronal ceroid lipofuscinosis. Diagnosis was confirmed by appropriate enzyme assay. Clinical presentation was quite varied. Common presenting features included refractory seizures, developmental delay/regression, and abnormal movements. Visual failure was not common in the present case series, and novel neuroimaging finding in the form of isolated dentate nucleus hyperintensities were noted. During follow-up, all patients had a progressive downhill course and one patient died. Prenatal diagnosis could be offered to one family. This study suggests that infantile and late-infantile neuronal ceroid lipofuscinosis is not uncommon in this region of the country and the phenotype may be different.

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Sigma-Aldrich
Dipeptidyl Peptidase VII human, recombinant, expressed in Sf9 cells

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