Abstract Details

Title Deep Brain Stimulation for a DYT-TOR1A Variant Presenting with Rapidly Progressive Refractory Status Dystonicus in a 3-year-old

Topic Child Neurology and Developmental Neurology

Presentation(s) P11 - Poster Session 11 (8:00 AM-9:00 AM)

Poster/Presentation
Number 6-010

Objective

DYT-TOR1A is one of the most common genetic etiologies of pediatric dystonia, typically presenting in adolescents with appendicular dystonia that generalizes over months to years.

Background Our patient is an ex-29-week premature infant secondary to placenta accreta and cervical insufficiency with an uncomplicated NICU course. He was diagnosed with language and fine motor delays and Autism Spectrum Disorder Level 3 (age 2.5). At age 2, he lost the ability to hold utensils and began toe-walking at age 2.5. At age 3.5, he developed lower extremity dystonia, which rapidly generalized (e.g., he dragged himself across the floor with his arms). Verbalizations included “ow” and “help me” due to pain. He failed an outpatient carbidopa-levodopa trial for one month and progressed to status dystonicus with maximum creatine kinase of 638 U/L and lactate of 3.5 mmol/L. Extensive work-up revealed a maternally inherited pathogenic variant in TOR1A, c.907_909del (p.Glu303del) with family pedigree (Figure 1). He failed several medications and required continuous infusions (Table 1) to manage symptoms. He responded well to a baclofen injection, leading to an intrathecal baclofen pump placement, but only attained temporary relief despite dose optimization. Expressive language improved with baclofen, raising the question of language impairment due to vocal dystonia. Ultimately, he had bilateral globus pallidus interna (GPi) deep brain stimulation (DBS) placed (Figure 2), which has provided benefits and allowed him to be weaned off continuous medications.

Design/Methods n/a

Results Status dystonicus is a relatively rare pediatric movement disorder requiring emergency treatment, and early genetic testing. This case illustrates challenges to providing anticipatory guidance and treatment expectations in complex, treatment-refractory TOR1A status dystonicus with an atypical presentation. Using bilateral GPi DBS to treat symptoms required unique planning considerations and weighing factors influencing expected outcomes.

Conclusions TOR1A should be considered in the differential diagnosis of status dystonicus, even at a young age.

Authors/Disclosures
Audrey Hunt, DO (Wake Forest Baptist Health) PRESENTER	Dr. Hunt has nothing to disclose.
Matthew Somerville, MD (Wake Forest Baptist Health)	Dr. Somerville has nothing to disclose.
Hadley Walsh, BA	Ms. Walsh has nothing to disclose.
Aubrey Hite, MS, CGC	Mr. Hite has nothing to disclose.
Leah Chapman (Atrium Health Wake Forest Baptist)	Leah Chapman has received research support from NIH and NINDS.
Jared M. Kaplan, MD	Dr. Kaplan has nothing to disclose.
Jennifer L. Harmon, MD, PhD (Children'S National Medical Center)	Dr. Harmon has nothing to disclose.
Jessica Tate, MD (Atrium Health Wake Forest Baptist)	The institution of Dr. Tate has received research support from Ipsen. The institution of Dr. Tate has received research support from Boston Scientific. The institution of Dr. Tate has received research support from Revance Therapeutics. The institution of Dr. Tate has received research support from CHDI Foundation. The institution of Dr. Tate has received research support from NINDS. The institution of Dr. Tate has received research support from Michael J. Fox Foundation.
Daniel Couture, MD	Dr. Couture has nothing to disclose.
Jaclyn Martindale, DO, FAAN (Wake Forest Medical Center)	Dr. Martindale has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Movement Disorder Society. The institution of Dr. Martindale has received research support from Tourette Association of America. The institution of Dr. Martindale has received research support from American Board of Neurology and Psychiatry.

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