Parkinson Hastalığında Sürekli İntrajejunal Levodopa-Karbidopa İnfüzyonu 22q11.2 Delesyon Sendromu ile İlişkili: Bir Vaka Serisi.

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Background22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early-onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS).CasesWe report 2 patients with 22q11DS who developed EOPD at about age 30 with prominent psychiatric manifestations. In both cases, diagnosis of 22q11DS was delayed until genetic testing was performed for atypical parkinsonism associated with intellectual disability and dysmorphic features. Severe motor fluctuations and dyskinesia developed early. Because of psychiatric vulnerability, DBS and dopamine agonists were considered unsuitable. Continuous intrajejunal levodopa-carbidopa infusion (LCIG [levodopa-carbidopa intestinal gel]) was initiated, which led to sustained improvement in motor fluctuations and functional status, although individualized dose adjustments were required.ConclusionsLCIG may represent a valuable therapeutic option in selected patients with 22q11DS-associated Parkinson's disease when psychiatric comorbidity limits other advanced therapies.

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