Author(s): Sarar Mohamed
Neuronal ceroid lipofuscinoses (NCLs) are a large group of autosomal recessive lysosomal storage disorders. Patients present with distinct clinical features. Confirmation of diagnosis is a challenge and involves complex biochemical, and enzymatic tests which may not be available locally. The aims of this study were to describe the clinical features and DNA results of patients attend Saad Specialist Hospital, Eastern Province, Saudi Arabia with clinical diagnosis of NCL. Seven children (age 6 months to 11 years) with common clinical features (microcephaly, developmental delay, neuroregression, behavior changes seizures, EEG changes and MRI changes of cerebral atrophy) - all suggestive of NCLs –were included in this study. Biochemical, metabolic, and DNA tests were performed in all patients. DNA results showed that one patient carries a homozygous mutation in CLN2 exon 12 (G514R5837A>T. Another patient carries a compound heterozygous mutation in CLN3 gene (IVSII-3C>T) and in CLN2 gene (G514R 5837 A>T in exon 12). A third patient carries a heterozygous mutation in CLN1 gene (IVSIII-18). The other 4 patients carry no mutation.