Disclosures: Nan Wang, MD: Nothing to disclose

Case Description: A 3-year-old girl with developmental regression was referred from orthopedics for evaluation of difficulty with ambulation. She was born full term without perinatal or postnatal complications. She reached all her developmental milestones and was able to walk by 1 year of age. However, she was noted to have speech delay and gradually developed toe walking in crouch gait after one episode of fever at one and half years old. Physical examination was remarkable for hypertonia and hyperreflexia of bilateral lower extremities, grade one for bilateral hip adductors and knee flexors on Modified Ashworth Scale (MAS), grade two for bilateral hip flexors on MAS, and severe ankle hyperpronation in toe walking with support.

Setting: Academic outpatient pediatric rehabilitation clinic

Patient: A 3-year-old girl with history of developmental regression

Assessment/Results: Brain MRI showed extensive cerebral hypomyelination. Due to suspicion for an underlying genetic disorder, whole exome sequencing was performed and an autosomal recessive form of Aicardi-Goutieres syndrome (AGS) was identified. The child was given ankle foot orthoses and received physical therapy for ambulation. Botox injections were given to decrease spasticity.

Discussion: AGS is a rare and progressive encephalopathy, mostly inherited in an autosomal recessive manner. There are two main clinical presentations. An early onset form is characterized by poor feeding and neonatal seizures highly reminiscent of congenital infections. A late onset form typically presents at 4 months of age with fevers followed by psychomotor delay and neurological impairment. Diagnosis is made based on clinical features, leukodystrophic changes on MRI, lymphocytosis and raised INF-alpha levels in the cerebrospinal fluid, and confirmatory genetic testing. There is no known cure for AGS.

Conclusion: Developmental regression and spastic diplegia with delayed onset represent an atypical and milder form of AGS.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/atypical-presentation-of-aicardi-goutieres-syndrome/