Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.

Autor: Purzycka-Olewiecka JK; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Hetmańczyk-Sawicka K; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Kmieć T; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland., Szczęśniak D; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Trubicka J; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland., Krawczyński M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Center for Medical Genetics GENESIS, Poznan, Poland., Pronicki M; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland., Ługowska A; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. alugipin@yahoo.com.
Jazyk: angličtina
Zdroj: Metabolic brain disease [Metab Brain Dis] 2023 Feb; Vol. 38 (2), pp. 709-715. Date of Electronic Publication: 2022 Dec 28.
DOI: 10.1007/s11011-022-01148-5
Abstrakt: Ceroid lipofuscinosis type 3 (CLN3) is an autosomal recessive, neurodegenerative metabolic disease. Typical clinical symptoms include progressive visual loss, epilepsy of unknown etiology and dementia. Presence of lipofuscin deposits with typical pattern of 'fingerprints' and vacuolized lymphocytes suggest the diagnosis of CLN3. Cause of CLN3 are mutations in the CLN3 gene, among which the most frequently found is the large deletion 1.02 kb spreading on exons 7 and 8. We present 4 patients from 2 families, in whom the deterioration of visual quality and acuity was observed as first clinical sign, when they were a few years old and it was successively accompanied by symptoms of neurologic deterioration (like generalized convulsions with consciousness impairment). In all patients the 1.02 kb deletion in the CLN3 gene was detected in homo- or heterozygosity with other CLN3 pathogenic variant. Ultrastructural studies revealed abnormal structures corresponding to 'fingerprint' profiles (FPPs) in conjunctival endothelial cells. It should be emphasized that in patients with blindness of unknown cause the diagnosis of ceroid lipofuscinosis should be considered and in older children-especially CLN3. The facility of the analysis for the presence of 1.02 kb deletion and economic costs are a solid argument for intensive use of this test in the diagnostic procedure of CLN3.
(© 2022. The Author(s).)
Databáze: MEDLINE
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