Disclosures: Kyle D. Josephson, MD: Nothing to disclose

Case Description: This patient was born at full-term without complication surrounding her birth. At 16 months, she was evaluated for toe walking and was noted to have hypertonia of the lower extremities, spastic gait, and mild dystonia. She was followed by Pediatric Neurology and underwent MRI Brain revealing bifrontal white matter calcifications. Metabolic screening studies were performed and nondiagnostic. Subsequent whole exome sequencing (WES) revealed monoallelic mutation of the IFIH1 gene associated with Aicardi-Goutieres syndrome-7. Additional family members underwent WES, and the IFIH1 variant was observed in her paternal grandfather, who is currently asymptomatic; father, who has spastic gait but is otherwise healthy; and younger brother, who has spastic gait and hyperreflexia. The patient was noted to have a more severe phenotypic presentation compared to her family, and therefore presented for management of her symptoms related to AGS7.

Setting: Pediatric Rehabilitation Center

Patient: A 4-year-old female with spastic diplegia from Aicardi-Goutieres Syndrome-7 (AGS7).

Assessment/Results: The patient has remained functional with onabotulinumtoxinA (Botox) injections and serial casting despite reports suggesting that Botox in patients with AGS may have poor outcomes. Botox has provided functional improvement in gait, sleep, and reduction in pain.

Discussion: AGS7 with IFIH1 variant is an extraordinarily rare disease with few reported cases in the literature. While some cases have demonstrated normal early development with episodic neurologic progression, most patients present with delayed psychomotor development, axial hypotonia, spasticity, and white matter calcification particularly in the basal ganglia. In certain patients with AGS, spasticity management with Botox has been associated with abnormal neurologic and immune reactions. However, in this patient, Botox has provided significant improvement in symptoms without signs of adverse reaction.

Conclusion: This case demonstrates the phenotypic variation between generations in a family with AGS7. Despite previous concerns, Botox can result in significant functional improvements in patients with spasticity due to AGS7.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/spasticity-management-in-a-patient-with-aicardi-goutieres-syndrome-with-ifih1-variant-a-case-report/