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Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.

Pediatric neurology - 1 Nov 2022

Kulsirichawaroj Pimchanok, Likasitwattanakul Surachai, Boonsimma Ponghatai, Prangphan Kanjana, Chanvanichtrakool Mongkol

Abstract excerpt

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) (hereafter described as CLN disease) comprise a rare and life-limiting set of genetically inherited neurodegenerative disorders that are characterized by abnormal lysosomal storage. The NCL disorders are, collectively, the most common group of degenerative brain disorders in children. PATIENT DESCRIPTIONS: We report two cases of CLN disease that were diagnosed and...

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PMID: 36137348
DOI: 10.1016/j.pediatrneurol.2022.08.003

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