(754) Correlation or Coincidence: sCJD With Anti-GD1a Antibody: A Case Report

Introduction: Prions are transmissible, infectious proteinaceous particles that cause fatal neurodegenerative diseases. Although rare, the most common form in humans is known as sporadic Creutzfeldt-Jakob disease (sCJD). The Centers for Disease Control and Prevention defines ‘probable sCJD’ as a neuropsychiatric disorder with positive Real-time quaking-induced conversion (RT-QuIC) or autopsy findings.

Description: A 66-year-old epileptic woman was hospitalized for multiple episodes of seizures. Family reported cognitive decline, frequent falls, and gradual right arm weakness over six months. On examination, she had minimal pain response with reflexive limb withdrawals. Persistent convulsions necessitated intubation, sedation and additional antiepileptics. Laboratory tests revealed vancomycin-resistant Enterococcus UTI. Electroencephalogram confirmed focal refractory status epilepticus (RSE). The brain MRI revealed widespread white matter hyperintensity, including bilateral basal ganglia, cerebellum, and periventricular regions. Cerebrospinal fluid analysis showed no abnormalities except mild protein elevation of 104 mg/ dL (normal: 10-45 mg/dL). Despite seizure control, she remained comatose, diminished reflexive motor functions, accompanied by autonomic instability suggestive of dysautonomia. Serological testing revealed high anti−GD1a antibody levels (166 IV; normal: 0-50 IV). Regrettably, the RTQuIC test returned positive indicating probable sCJD, leading the family to decide on palliative care and forgo an autopsy.

Discussion: Autoimmune antibodies can occur in CJD, probably from rapid destruction of the central nervous system, which exposes the neuronal epitopes to the immune system and subsequent production of antibodies. The significance of these antibodies is not fully understood. While several antibodies have been identified in patients with sCJD, antiGD1a antibody has not been reported. In our case we could not confirm the significance of antiGD1a antibody, which will need to be explored in future studies. This case also serves as a crucial reminder to consider prion disease as a potential diagnosis in patients presenting with RSE and progressive cognitive decline.