Volume 15, Issue 6

The Slow March of Childhood: A Case Report of Kufor-Rakeb Syndrome

Author

Sabavath Arun, Shivangi Sinha, Sheikh Almas

Abstract

Background: Kufor–Rakeb syndrome (KRS) is a rare autosomal recessive neurodegenerative disorder caused by pathogenic variants in the ATP13A2 gene. It is characterized by juvenile-onset parkinsonism, cognitive decline, and neuropsychiatric manifestations.

Case Presentation: A 16-year-old boy presented with a three-year history of progressive cognitive decline, behavioural changes, speech impairment, dysphagia, and gait difficulty. Neurological examination revealed cognitive dysfunction, hypomimia, generalized rigidity, dysarthria, brisk lower-limb reflexes, and bilateral extensor plantar responses. Routine laboratory investigations and disease-specific screening tests were unremarkable. Clinical exome sequencing identified a homozygous pathogenic ATP13A2 variant, c.2629G>A (p.Gly877Arg), confirming the diagnosis of Kufor–Rakeb syndrome. Supportive multidisciplinary management was initiated.

Conclusion: This case highlights the importance of considering ATP13A2-related Kufor–Rakeb syndrome in adolescents with progressive neurocognitive decline and juvenile-onset parkinsonism. Early genetic testing can facilitate timely diagnosis, counselling, and supportive care.

Keywords: ATP13A2, Kufor–Rakeb syndrome, juvenile parkinsonism, neurodegeneration, cognitive decline, case report.

DOI: https://doi.org/10.62226/ijarst20262717

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DOI

https://doi.org/10.62226/ijarst20262717

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