Table 1 Summary of physical, laboratory, imaging findings, treatment and outcomes for 4 cases of suspected autoimmune encephalitis. Clinical features suggestive of autoimmune encephalitis are bolded
From: Immune mediated pediatric encephalitis – need for comprehensive evaluation and consensus guidelines
Case | 1 | 2 | 3 | 4 |
|---|---|---|---|---|
Age in years/sex | 13/M | 17/F | 9/F | 17/M |
Symptom duration | 8 months | 3 months | 1 year | 6 months |
Physical symptoms | Anorexia Motor slowing Slow, ataxic gait Abnormal movements of lip/tongue Mutism Food refusal Dizziness Autonomic instability | Headaches Abdominal pain Emesis Urinary retention Vibratory tactile sensation in head Dysphagia Constipation | Periods of confusion Disorientation Decreased speech fluency Language regression Nonsensical speech | Decreased movements Decreased speech Soft, scripted speech Staring spells Fatigue |
Psychiatric symptoms | Social isolation Catatonia | Memory difficulties Decline in academic performance Social isolation Anxiety Panic attacks Agitation Insomnia Paranoia | Inappropriate laughter Talking to imaginary friends Disengagement in school Aggression Defiance Social Isolation Visual hallucinations Paranoia Disorganized behavior | Decreased attention and concentration Social isolation Not caring for self Auditory and visual hallucinations Talking to self Irritability Difficulties with multistep commands Increased sleep |
Family History of autoimmune disease | None | None | Father with multiple sclerosis Paternal aunt with Myasthenia Gravis | None |
Serum and urine | Mildly elevated GAD65 antibody (0.15 nmol/L), otherwise unremarkable including rest of encephalopathy panel, electrolytes including calcium (with exception of low phosphorus), folate, B12, Lyme serology, herpes simplex, enterovirus, cryptococcus, VDRL, whole exome sequencing | Mildly elevated GAD65 antibody (0.15 nmol/L), otherwise unremarkable including CBC, electrolytes, thyroid function, liver function, C-reactive protein, B12, ceruloplasmin, toxicology, heavy metals, blood smear, urinalysis | Unremarkable including outside hospital testing CBC, CMP, inflammatory markers, thyroid studies, ammonia, folate, copper, ceruloplasmin, heavy metals, plasma amino acids, urine organic acids, very long chain fatty acids, lysosomal disorders screen, chromosomal microarray, Noonan panel. Repeat inpatient testing unremarkable | Unremarkable except for low ferritin (12 mcg/L), including toxicology screen, CBC, electrolytes, inflammatory markers, thyroid function |
MRI | Unremarkable other than evidence of malnutrition | Slit third ventricle with narrowed lateral ventricles, no cerebral hypotension and diffuse changes consistent with perinatal insult | Unremarkable | Unremarkable |
CSF | Mildly elevated protein (45 mg/dL), otherwise unremarkable; no presence of bands | Total protein elevated (144 mg/dL; 110 mg/dL 6 months later); no presence of bands | Unremarkable; no presence of bands | Positive GFAP antibodies from outside hospital, repeat negative; no presence of bands |
EEG | Unremarkable | Unremarkable | Intermittent diffuse nonspecific bifrontal slowing, bifrontal spikes and sharp waves without clinical correlate, intermittent independent left/right temporal slowing | Mild nonspecific background slowing |
Treatment with IVIG or corticosteroids | 5 days IV methylprednisolone; 5 days IVIG then monthly infusions for 3 months | 5 days IVIG then intermittent doses; 5 days methylprednisolone upon readmission | 3 days high dose IV methylprednisolone then oral prednisone; single dose IVIG then twice-weekly IVIG, then monthly IVIG; rituximab | 5 days IV methylprednisolone |
Response | Improved over time | Initial significant improvement, not sustained with both treatment course. Return to baseline after neurosurgical intervention | Some initial improvement in mood, speech, social interactions; not sustained | Initial improvement, not sustained |