Fahr's syndrome, also known as bilateral striopallidodendate
calcinosis, is a rare inherited neurodegenerative illness characterized by abnormal
calcium deposition in several areas of the brain, resulting in a wide range of neuropsychological symptoms.
Fahr's syndrome, secondary to
autoimmune polyendocrine syndrome type 1, which includes
adrenal insufficiency and mucocutaneous
candidiasis in addition to
hypoparathyroidism, is exceedingly rare. No case report has been documented to date to show the co-occurrence of
Fahr's syndrome and
neuromyelitis optica spectrum disorder. Here, we discuss the case of a 30-year-old man with a previous history of
seizures and symptoms of ectodermal dystrophy presented with
seizures, left-sided
hemiparesis,
dysarthria, and other characteristics indicative of severe
hypocalcemia. The neuroimaging findings strongly suggested
Fahr's syndrome, with radiographic evidence of
Neuromyelitis optica spectrum disorder as longitudinal extensive
transverse myelitis in the cervical spinal cord, high titers of serum aquaporin-4
antibodies, and demyelinating neuropathy on nerve conduction studies. This distinct neuropsychological presentation and neuroimaging findings led to the diagnosis of
Fahr's syndrome as a result of
hypoparathyroidism caused by
autoimmune polyendocrine syndrome type 1 with cooccurrence of
neuromyelitis optica spectrum disorder. The patient's clinical symptoms improved considerably after he was treated based on a provisional diagnosis. 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. 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 two different disorders.