Bishow Chandra Mahat1, Katharine Dermigny1, Lamees Alzyoud1, Madison Pilato1
1UPMC, Department of Neurology, Pittsburgh
Objective:
To describe a rare fatal outcome in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.
Background:
Our patient was a 42 year old healthy woman who presented with 3 months of low back pain, bilateral upper extremity postural tremor, neck pain which progressed to 1 week of confusion and memory impairment.
Results:
Neurologic exam revealed impaired attention, 3+ deep tendon reflexes throughout, bilateral upper extremity postural tremor and narrow based gait. MRI Brain showed abnormal, diffuse and relatively symmetric periventricular linear enhancement with associated subependymal enhancement. MRI C-spine demonstrated longitudinally extensive T2 FLAIR hyperintensity extending from C2-T2. Lumbar puncture showed opening pressure of 19 cm H2O with lymphocytic pleocytosis. She was treated with 5 days of pulse-dose corticosteroids with significant neurologic improvement and was discharged on prednisone taper. She was at her neurological baseline at Neuroimmunology clinic a week after the discharge. In the interim, CSF studies returned positive for GFAP antibody. Two weeks after the visit, she had new-onset word-finding difficulties, forgetfulness and intermittent staring spells. She was started on prednisone 60 mg daily and had repeat lumbar puncture at the office. Four to five hours after the lumbar puncture, she developed worsening confusion and bilateral upper extremity shaking . She was brought to our ED where her exam revealed dilated pupils with minimal reaction to light. CT head and CTA of the head and neck showed diffuse cerebral edema with absent cortical blood flow. Death by neurologic criteria was met the next day.
Conclusions:
Autoimmune GFAP astrocytopathy has an overall favorable prognosis. Our patient had a fatal outcome secondary to cerebral herniation following lumbar puncture, similar to the first reported fatal case. These two cases suggest that autoimmune GFAP astrocytopathy may present with diffuse cerebral edema and caution should be taken when performing lumbar punctures when this disease is suspected or diagnosed.