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2025, Number 6

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Rev Mex Pediatr 2025; 92 (6)

Gelastic cataplexy as an atypical presentation of fucosidosis type II: first report in the world and with a new variant in the FUCA1 gene

Cárdenas-Conejo A, Jacuinde-Trejo K, Rivera-Comparán EA, Aguilar-Gallardo A, Cantellano-García DM

Language: Spanish
References: 24
Page: 241-246
PDF size: 1214.29 Kb.


ABSTRACT

Introduction: we describe the first case worldwide of fucosidosis type II with gelastic cataplexy as an atypical clinical presentation, along with the discovery of a novel pathogenic variant in the FUCA1 gene. Case description: a female patient presented at 36 months of age with neurodevelopmental delay, short stature, recurrent respiratory infections, and angiokeratomas on her hands. In addition, since the age of four, she had experienced transient episodes of muscle weakness triggered by laughter, consistent with gelastic cataplexy. After several years of follow-up, until age 16, a novel homozygous nonsense variant, described as NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter), was identified by next-generation sequencing, establishing the definitive diagnosis of fucosidosis type II. Conclusions: with this patient's clinical data, the phenotypic spectrum of fucosidosis type II is broadened to include gelastic cataplexy. This case should serve as a warning to consider certain atypical clinical features in the differential diagnosis of lysosomal storage diseases, underscoring the need for molecular diagnostics to resolve diagnostic challenges and provide appropriate management and genetic counseling.


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