Objective: To provide a case description of dystonia-predominant parkinsonism due to underlying hydrocephalus associated with CIM in an adult.

Background: Hydrocephalus is estimated to be present in 7-18% of Chiari type I malformation (CIM), though commonly described in the pediatric population and young adults. Hydrocephalus associated with CIM (HC) typically manifests with gait instability, urinary incontinence, and cognitive dysfunction. Extrapyramidal symptoms (EPS) are less described presentations.

Method:

We present a 77-year-old male with HC presenting with EPS.

Results: The patient presented with a 5-year history of slowly progressive loss of dexterity, right-hand tremors, shuffling gait, and recurrent falls. His nonmotor profile included cognitive impairment, depression, apathy, urge incontinence, orthostatic hypotension, and hyposmia. His motor exam findings included hypomimia, hypophonia, predominantly right-sided dystonia, rigidity, and bradykinesia. Right leg (RLE) levitation was noted at rest. He had a narrow-based parkinsonian gait with RLE dragging, decreased right arm swing with dystonic posturing, and en-bloc turning with positive retropulsion. No neglect or apraxia was appreciated on exam. Levodopa response was not noted. MRI brain revealed hydrocephalus and CIM with 16mm caudal cerebellar ectopia causing cerebrospinal fluid outflow obstruction. Additionally, spinal imaging showed cervical syrinx from C2-3 to T2-3. The DaTscan results were confounded by bupropion use but showed preferential involvement of the right caudate. He was considered a neurosurgical candidate and underwent ventriculoperitoneal shunt with significant motor benefits. His cognition has declined during the 18-month follow-up but maintains improvement in his gait, parkinsonism, and dystonia.

Conclusion: To our knowledge, this is the first description of HC presenting in late adulthood with levodopa unresponsive asymmetrical parkinsonism with dystonia. The case details several overlapping features with degenerative parkinsonism, which can lead to delayed diagnosis. Interestingly, the DaTscan showed a preferential caudate involvement which has been reported with hydrocephalus previously. Early recognition with surgical intervention can provide significant symptomatic benefits. Further studies are needed to elucidate the effect of hydrocephalus on the basal ganglia circuitry and overlap with degenerative etiologies.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/hydrocephalus-associated-with-chiari-i-malformation-presenting-with-parkinsonism-and-dystonia/