The Neuronal Ceroid Lipofuscinoses (NCLs) are collectively the most common pediatric progressive inheritance, characterized by the intracellular accumulation of ceroid and lipofuscin. They are clinically classified as infantile(INCL), late infantile(LINCL), juvenile(JNCL), ans adult types (ANCL), and an increasing number of variant forms are also recognized.The NCLs are classified according to the current diagnostic consensus in 8 genetical types. We applied the international criteria of NCL: clinical, morphological, enzymological and genetic, to evaluate 35 patients belonging to 29 families at the Children?s Hospital in Córdoba (1980-2003). Our algorithm included the data concerning MRI, EEG, evoked visual potentials, and electro retinograms; electron microscopy (EM) of skin and lymphocytes; palmitoyl-protein-thioesterase1 (PPT1) and tripeptidyl-peptidase-I (TPP-I) lysosomal enzyme assay in plasma, in leukocytes and in saliva. The molecular analysis is in progress. Results: 6 patients, belonging to 4 families, were confirmed for NCL: 1) One male with juvenile phenotype had PPT1 deficiency (INCL). The scan of the CNL1 gene is in progress. 2) Two male siblings with juvenile phenotype had TPP-I deficiency (LINCL). The skin biopsy showed curvilinear bodies and fingerprint profiles (CB+FP) and one Q66X mutation was identified. 3) One male patient with juvenile phenotype was suspected for JNCL through the skin biopsy with FP profiles and vacuolated lymphocytes. 4) One female patient with juvenile onset was suspected for JNCL through the EM with FP profiles. These 2 last patients showed no enzyme deficiency, and any mutation in the CNL3 gene was detected by now. The remaining suspected subjects were rouled out enzymatically for INCL and LINCL. The data evidenced the heterogeneity of this group of patients. Through further studies, genotype-phenotype correlations of NCL may be expanded in our region.
