Abstract Details

Title Epilepsia Partialis Continua & Stiff Person Syndrome Occurring Together in a Child with Anti-GAD Antibody Positivity

Topic Autoimmune Neurology

Presentation(s) Autoimmune Neurology Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 069

Objective Case-Report

Background Anti-GAD-positive neurological syndromes occur from antibodies blocking glutamic-acid-decarboxylase-65 enzyme receptors, preventing glutamatergic conversion to GABA, further increasing glutamate neurotransmission. Stiff-person syndrome (SPS), limbic encephalitis, epilepsy, cerebellar ataxias, retinal and ocular/extraocular abnormalities, and Miller-Fisher syndrome are associated with anti-GAD-antibody positivity. There are three previously reported cases of Epilepsia Partialis Continua (EPC) in association with anti-GAD-antibody encephalitis, two of which occurred in children.

Design/Methods An 11-year-old boy with history of tonic-clonic seizures presented with gradual onset of truncal stiffness, episodic painful muscle spasms, right upper extremity rigidity, and continual focal jerking of right third and fourth digits at frequency of 4-10 Hz, persisting during sleep. On exam, patient had attention & memory deficits, nystagmus on left lateral gaze, lumbar hyperlordosis, abdominal and paraspinal muscle stiffness and slow gait with short steps and decreased arm swing. MRI brain/total spine with & without contrast was normal. EEG showed posterior slowing and right temporal spikes. Serology demonstrated mildly elevated creatine kinase (361U/L), speckled ANA (1:320) and normal Hba1c. CSF revealed 11 WBC with 80% lymphocytes, normal protein and glucose levels, and 15 oligoclonal bands with kappa free light chain predominance (0.63). Infectious work-up was negative. Serum and CSF GAD65-antibody levels were elevated at 1708 nmol/L and 290 nmol/L, respectively.

Results

Clonazepam and IVIG, in addition to anti-epileptic medications, led to rapid reduction of SPS symptoms and resolving EPC symptoms.

Conclusions

We report a child with high serum and CSF anti-GAD antibody positivity resulting in widespread neurological manifestations including EPC and SPS, however without radiological abnormalities. EPC and SPS occurring together in a child with anti-GAD- ab positivity has not been reported before, and it can be extremely disabling. Recognition of these clinical manifestations early may aid in detection of an underlying antibody-associated syndrome. EPC is often drug-resistant to anti-epileptic medications, and immunotherapy is an option in these cases.

Authors/Disclosures
Aditi V. Varma-Doyle, MD (Brigham and Women's Hospital, Mass General Brigham) PRESENTER	Dr. Varma-Doyle has nothing to disclose.
Julio Vega, MD (Nirvana Healthcare)	Dr. Vega has nothing to disclose.
Katherine M. Gutchess, DO	Dr. Wojcicki has nothing to disclose.
Maria B. Weimer, MD (LSUHSC)	Dr. Weimer has nothing to disclose.
Daniella Miller, MD (Louisiana State University, Child Neurology)	Dr. Miller has nothing to disclose.

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