Author

Robert Śmigiel

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Case report Open access Sep 2026

Clinical, Neuroimaging, and Molecular Characterization of a Juvenile PLAN-like Phenotype in Two Siblings Carrying p.Arg645Gln and an Unresolved Exon 4–7 Copy-Number Gain: A Case Report

PLA2G6-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative spectrum encompassing infantile, juvenile/atypical and adult-onset phenotypes. Juvenile PLAN may initially resemble autism spectrum disorder or nonspecific developmental regression, delaying diagnosis. We describe a 14-year-old boy a...

Małgorzata Janeczko-Czarnecka, Maciej Gręda, Dorota Cichosz et al. · Genes · 0 citations

Open access Jul 2026

TANGO2-related metabolic encephalopathy–arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report

A case of a child with confirmed 22q11.2 deletion syndrome in whom a coexisting variant in the TANGO2 gene was diagnosed at the age of 5 after first metabolic crisis with rhabdomyolysis, demonstrating that exome sequencing should be pursued early when atypical features emerge in patients with established genetic diagno...

Ewa Grzywna-Rozenek, Ł. Sędek, M. Rydzanicz et al. · BMC Pediatrics · 0 citations