Neuromyelitis optica spectrum disorder (NMOSD) may be associated with Fahr’s syndrome in very rare cases, according to a new case study published in the journal Frontiers in Neurology.
“This case encourages researchers to investigate the missing link behind the occurrence of these 2 distinct disorders together,” the study authors wrote.
Read more about the NMOSD diagnosis
This is the first case of NMOSD and Fahr’s syndrome cooccurrence. The 30-year-old male patient had a history of seizures and symptoms of ectodermal dystrophy, dysarthria, hemiparesis on his left side, and other features linked with severe hypocalcemia.
He underwent neuroimaging studies, which were strongly suggestive of Fahr’s syndrome. Radiographic evidence showed longitudinal extensive transverse myelitis in the cervical spinal cord. His serum aquaporin-4 (AQP4) antibody titer was high, and nerve conduction studies showed demyelinating neuropathy, all hallmarks of NMOSD.
He was diagnosed with Fahr’s syndrome resulting from hypoparathyroidism caused by autoimmune polyendocrine syndrome type 1 and cooccurring NMOSD, based on his distinct neuropsychological presentation and neuroimaging findings.
He was treated based on this provisional diagnosis, which led to a considerable improvement in his clinical symptoms.
“The clinical importance of our case is significant for both neuropsychiatrists and endocrinologists, as autoimmune polyendocrine syndrome should be considered as the etiology of Fahr’s syndrome,” the researchers noted.
“This case report also aims to report this unusual association of neuromyelitis optica spectrum disorder with Fahr’s syndrome to give the future prospective to know whether this association is incidental or there is a missing link between these 2 different disorders,” they added.
Fahr’s syndrome is a rare genetic neurodegenerative disease characterized by abnormal calcium deposition in different areas of the brain, causing neuropsychological symptoms such as dementia, seizures, and motor function deterioration.
NMOSD is an autoimmune disease also affecting the brain and spinal cord in which autoantibodies against the astrocyte AQP4 water channel cause severe optic neuritis and/or myelitis.
Nawaz A, Ahmad A, Aslam A, et al. Fahr’s syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder. Front Neurosci. Published online June 30, 2023. doi:10.3389/fnins.2023.1226214