We report the case of a female child with INCL, who developed early and dramatic decreased rate of head growth with acquired microcephaly and marked cerebral atrophy, a relatively late appearance of severely progressive epilepsy (displaying a ‘‘vanishing’’ EEG pattern), GRODs in a skin biopsy, and hypertrophic cardiomyopathy. Defective enzymatic activity of CTSD was detected by a mass spectrometry (MS)-based assay in dried blood spots (DBSs). Sanger sequencing showed that the child harbored a novel homozygous c.205G>A, p.Glu69Lys located in exon 2 of CTSD.
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD / Doccini, Stefano; Sartori, Stefano; Maeser, Stefan; Pezzini, Francesco; Rossato, Sara; Moro, Francesca; Toldo, Irene; Przybylski, Michael; Santorelli, Filippo M.*; Simonati, Alessandro. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - ELETTRONICO. - 263:(2016), pp. 1029-1032. [10.1007/s00415-016-8111-6]
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD
Doccini, Stefano;
2016
Abstract
We report the case of a female child with INCL, who developed early and dramatic decreased rate of head growth with acquired microcephaly and marked cerebral atrophy, a relatively late appearance of severely progressive epilepsy (displaying a ‘‘vanishing’’ EEG pattern), GRODs in a skin biopsy, and hypertrophic cardiomyopathy. Defective enzymatic activity of CTSD was detected by a mass spectrometry (MS)-based assay in dried blood spots (DBSs). Sanger sequencing showed that the child harbored a novel homozygous c.205G>A, p.Glu69Lys located in exon 2 of CTSD.
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