Ceroid lipofuscinosis – Case report
March 29, 2010
| Abstract Title: | Ceroid lipofuscinosis – Case report |
| Authors: | Liana Precup, Lazar Dorin, Simona Dumitra, Ioan Precup |
| Affiliation: | “Vasile Goldis” Western University of Arad, Romania |
| Abstract text: | Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterized by an accumulation of autofluorescent lipopigments in neurons and other tissues. The disorders are classified into the infantile (INCL), late infantile (LINCL), juvenile (JNCL) and adult-onset NCL, as well as a heterogeneous group of atypical subtypes. Eight genetic loci (CLN1 to 8) have so far been identified, and four CLN genes have been isolated (CLN1, CLN2, CLN3, and CLN5). We report a case of an 8-year-old boy who presented an acute onset of seizures followed by rapid psychomotor deterioration, ataxia, and visual failure. The patient with normal antenatal and perinatal history presented to the Department of Pediatrics II Arad in 2008, with a history of mild-grade mental retardation and seizures. The seizures included generalized tonic-clonic convulsions, myoclonus, atonic seizures, and typical absence seizures. A complete blood count, liver and renal function tests, gave normal results. The electroencephalogram (EEG) was abnormal. The diagnosis was genetic. Currently, there is no effective treatment; the new antiepileptic agents may help in the control of the intractable seizures. |
| Keywords: | ceroid lipofuscinoses, child, case report |
| Presentation type: | Poster |
| Correspondence: | Pediatric Clinic, Emergency County Hospital, no. 1-3 Victoriei St., Arad, Romania |
| Email: | precup_l_d@yahoo.com |
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