Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses
| Autor: | Virupaxi Hattiholi, Gowda Parameshwar Prashanth, Mahesh Kamate |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Refractory seizures
Male Pathology medicine.medical_specialty Infantile neuronal ceroid lipofuscinosis Prenatal diagnosis Aminopeptidases Lipofuscin Neuronal Ceroid-Lipofuscinoses medicine Humans Longitudinal Studies Age of Onset Child Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Retrospective Studies Tripeptidyl-Peptidase 1 business.industry Infant medicine.disease Magnetic Resonance Imaging Hyperintensity Dentate nucleus Neurology Child Preschool Neuronal ceroid lipofuscinosis Female Neurology (clinical) Serine Proteases business |
| Zdroj: | Neurology India. 60(3) |
| ISSN: | 0028-3886 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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