A Rare Case Report of Infantile Onset Ascending Hereditary Spastic Paralysis
Year: 2024
Type: article
Study design: Case Report
Abstract: Background: Infantile-Onset Ascending Hereditary Spastic Paralysis (IAHSP) is a rare, progressive neurodegenerative disorder caused by mutations in the ALS2 gene. It typically presents during infancy with delayed developmental motor milestones, hypertonia, and lower limb spasticity, progressing to involve the upper limbs and resulting in severe motor impairment. Cognitive function is usually preserved, and MRI ndings are often normal, making genetic testing essential for diagnosis. Case Presentation: We report the case of a 4½-year-old girl presenting with delayed motor development and progressive spasticity, initially affecting lower limbs and later extending to the upper limbs. Diagnostic workup, including MRI and nerve conduction studies, was unremarkable. Whole-exome sequencing revealed a homozygous nonsense variant in the ALS2 gene, conrming the diagnosis of IAHSP. Symptomatic treatment, including physiotherapy, syndopa (levodopa + carbidopa) and anti-spasticity medications, was initiated with limited success. Conclusion: IAHSP is a rare genetic disorder with a poor motor prognosis. Early diagnosis through genetic testing is crucial for management, and multidisciplinary care plays a vital role in improving the quality of life, although signicant motor improvement remains unlikely.
Authors: Priyanka J Rabadia, Samarth Rabadiya, Neel Pandya, Bhadresh R Vyas
Institution: M. P. Shah Medical College
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4404144136