O3221: Progressive, Rapid Neurodegenerative Decline in an Adult with XLA: A Case Report

Introduction: X-linked agammaglobulinemia (XLA) is a primary immune disorder resulting in an inability to produce B cells. It has a x-linked recessive disease inheritance pattern and affects mostly males, with prevalence of 1 in 190,000 male births. Affected individuals are susceptible to infection, primarily with encapsulated organisms. Mainstay of treatment is frequent IVIG transfusions, which became prevalent in the 1980s. XLA was considered to be primarily pediatric illness, but with advances in treatment, patients are now expected to live into adulthood.

Case Description: This is a case of a 26 year old male diagnosed with XLA at 13 months. He received IVIG infusions monthly up until age 25 when his care was disrupted due to insurance loss. He experienced a 8 month progressive neurologic decline which included loss of ability to walk, talk, swallow, or communicate. His decline was so severe he required placement in a skilled nursing facility. He presented from the facility with concern of abnormal tongue movements. He was on no daily medications. Extensive infectious workup was performed and unrevealing. MRI showed marked age advanced global cerebral volume loss with enlargement of ventricles and sulci concerning for rapid deterioration. He had multiple EEGs over several months showing nonspecific, continuous, diffuse disturbance of cerebral activity with no seizures. Lumbar puncture lab studies were normal. There was concern for Creutzfeldt-Jakob disease (CJD) due to the rapid nature of his decline, but testing was negative. It was ultimately presumed that his progressive decline correlated with interruptions in IVIG infusions, and possibly resulted from a lack of treatment. The patient was unable to swallow and had percutaneous endoscopic gastrostomy (PEG) tube placed and discharged to the skilled nursing facility with palliative care.

Discussion: This case further highlights the need for excellent transitional care to adult providers with knowledge of chronic immune conditions that previously were only prevalent in pediatric populations, like XLA. Furthermore, from an advocacy standpoint, this case highlights the need for ensuring insurance coverage continues for pediatric patients with chronic illnesses into adulthood. It is possible that an infectious etiology was involved in this patient, but extensive infectious workup including multiple cultures and lumbar puncture was unremarkable. While it is unclear if disruption in care caused the patient’s severe decline, the events correlate. There is little documentation in the literature of such severe, rapid decline associated with XLA into adulthood.

Conclusion: Better transitional care is needed for all children into adulthood, especially children with chronic, rare immune diseases requiring frequent treatment that is resource intensive like XLA. This is a unique case of rapid neurodegeneration in an adult patient who lost access to IVIG treatment for XLA, who ultimately required palliative care, PEG tube placement, and a skilled nursing facility.