Case Reports
Vol. 13 No. 3 (2025)
https://doi.org/10.4081/hls.2025.13440
Novel clinical findings of neurodevelopmental disorder linked to HPDL gene mutation: a case report from Saudi Arabia
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: 29 November 2024
Accepted: 10 June 2025
Published: 8 September 2025
Accepted: 10 June 2025
Published: 8 September 2025
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HPDL gene mutations have recently been linked to neurodevelopmental disorders with variable presentations, ranging from mild hereditary spastic paraplegia to severe infantile neurodegeneration. While the HPDL protein’s role is unknown, it is highly expressed in brain mitochondria. Here we report a case of a 19- month-old male with a homozygous HPDL gene mutation presented with global developmental delay, epilepsy, laryngomalacia post-arytenoidectomy, swallowing dysfunction, and spasticity. He exhibited significant dysmorphic features and recurrent convulsions, and required nasogastric feeding due to oral feeding difficulties.
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How to Cite
Novel clinical findings of neurodevelopmental disorder linked to HPDL gene mutation: a case report from Saudi Arabia. (2025). Healthcare in Low-Resource Settings, 13(3). https://doi.org/10.4081/hls.2025.13440
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