A Case of Concurrent Hypophysitis and Longitudinally Extensive Transverse Myelitis: Expanding the Spectrum of Autoimmune Glial Fibrillary Acidic Protein (GFAP) Astrocytopathy
Objective:
To describe a case of GFAP astrocytopathy with combination of hypophysitis and longitudinally extensive transverse myelitis (LETM).
Background:
GFAP astrocytopathy is a recently defined CNS autoimmune disease characterized by GFAP-IgG antibodies with a typical clinical syndrome of meningoencephalomyelitis. We report a case with novel imaging findings of pituitary involvement with hypophysitis.
Design/Methods:
Case report and review of the literature.
Results:
A 22-year-old man with latent tuberculosis presented with neck pain and progressive upper extremity weakness and paresthesia. MRI brain and spine showed enlarged pituitary gland with enhancement consistent with hypophysitis and longitudinally extensive myelitis extending from the cervico-medullary junction to C5. CSF showed mild pleocytosis with autoimmune myelopathy panel positive for GFAP antibody by cell-based assay with 1:2 titer. An extensive serum and CSF workup was otherwise negative including testing for infectious, systemic autoimmune and CNS demyelinating conditions including neuromyelitis optica (NMO) and myelin oligodendrocyte glycoprotein associated disease (MOGAD). Interferon-gamma release assay was positive consistent with known history of latent tuberculosis for which he was evaluated by Infectious Disease without any evidence of active tuberculosis. The patient was treated with high dose IV methylprednisolone with clinical improvement that was sustained at 3 and 6 month outpatient follow-ups.
Conclusions:
Typical imaging findings of GFAP astrocytopathy include radial perivascular enhancement in the white matter, periependymal or meningeal enhancement, longitudinally extensive myelitis, and optic neuritis. Hypophysitis has not been previously described with GFAP astrocytopathy and is typically in the differential for IgG4-related diseases, immune checkpoint inhibitor toxicity, sarcoidosis, and other systemic autoimmune disorders. Our case highlights the growing spectrum of radiologic findings that can be seen in GFAP astrocytopathy and reinforces the need for a comprehensive diagnostic evaluation to exclude overlapping causes.
Generative AI Usage
No, did not use generative AI in the drafting or editing in this abstract.
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