Category: Parkinsonism, Others
Objective: To present an atypical case of Hereditary Spastic Paraplegia (HSP) subtype SPG 15 manifesting as juvenile levodopa-responsive parkinsonism and the subsequent management decision for GPi Deep Brain Stimulation (DBS).
Background: While HSP typically presents with spastic gait and cognitive impairment, this case underscores the complex heterogeneity of the disease.
Method: We present a case of a young man born to parents of a non-consanguineous marriage whose developmental history was marked by motor and speech delays in early childhood. He had motor symptom onset at age 11 with dragging of the left foot and bilateral upper extremity tremors followed by freezing of gait. Genetic testing in 2015 revealed a PARK2 heterozygous pathogenic variant. MRI Brain reported a thin corpus callosum and periventricular leukomalacia. DAT scan was positive for severe dopamine transporter deficit in the bilateral corpus striatum. The patient responded to Carbidopa/Levodopa and then developed motor fluctuations and dyskinesias and proceeded with carbidopa/levodopa intestinal gel (LCIG) therapy. The patient continued to have significant motor fluctuations with disabling dyskinesia, and LCIG therapy was complicated by recurrent skin and soft tissue infections and removed. Whole exome sequencing in 2020 revealed a ZFYVE26 homozygous pathogenic variant seen in HSP 15. Bilateral GPi DBS was pursued as a palliative measure with mild functional improvement
Results: This case illustrates the phenotypic heterogeneity in HSP associated with SPG15 mutations and demonstrates the progression of juvenile levodopa-responsive Parkinsonism associated with this variant
Conclusion: Our case emphasizes the need for clinical vigilance during follow-up exams. Earlier use of DBS for symptomatic management in HSP may be beneficial.
To cite this abstract in AMA style:
D. Nayar, A. Boddu, T. Virmani. Unique Presentation of SPG 15 as Juvenile Levodopa Responsive Parkinsonism: A Case Report [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/unique-presentation-of-spg-15-as-juvenile-levodopa-responsive-parkinsonism-a-case-report/. Accessed October 7, 2024.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/unique-presentation-of-spg-15-as-juvenile-levodopa-responsive-parkinsonism-a-case-report/