Disclosures: Sarah H. Evans, MD: Ipsen Pharmaceuticals (Products/Services: No) (Consultant/Advisory Board)

Case Diagnosis: 17-year-old boy with neurodegenerative disease misdiagnosed with cerebral palsy

Case Description or Program Description: BC is a 17-year-old male who was the product of a 40-week gestation. Delivery was uncomplicated. The patient developed normally until he was 3 years old, with the exception of a mild speech delay. At 3 years old, BC required hospitalization for the sudden onset of the inability to walk, associated with generalized weakness and with an acute viral illness. He was diagnosed with transverse myelitis and subsequently with spastic diplegic cerebral palsy. He continued to be followed in neurology, physiatrist and orthopedics for increasing tone and the musculoskeletal complications of the same. At nearly 17 years old, BC was hospitalized for an acute change in mental status . Genetic testing revealed a diagnosis of Aicardi Goutieres Syndrome. The patient has an older sister with AGS.

Setting: Tertiary care pediatric hospital

Assessment/Results: This patient had multiple signs of a leukodystrophy but continued to be followed as though he had a static lesion in a developing brain. Careful attention to the inconsistencies in birth history, loss of developmental milestones and family history could have led to earlier suspicion of a neurodegenerative disease.

Discussion (relevance): As health care providers, it is reasonable to align signs and symptoms of disease with common diagnoses, such as cerebral palsy. We must remain attentive to findings that do not fit with our initial conclusions, always considering re-evaluation of diagnosis to treat uncommon neurodegenerative diseases. A proper diagnosis can result in treatment, if it exists, and the ability to properly advise patients and families of expected course, along with the implications of family planning.

Conclusions: Continued education concerning diseases that mimic cerebral palsy is important for health care providers treating patients with hypertonia that effects motor function and development in children.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/missed-diagnosis-of-a-patient-with-aicardi-goutieres-leukodystrophy-a-case-report/