Fahr’s syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder
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 polyen...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnins.2023.1226214/full |
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| author | Ahmad Nawaz Azba Ahmad Ayesha Aslam Safia Bano Ahsan Numan Eisham Sarmad |
| author_facet | Ahmad Nawaz Azba Ahmad Ayesha Aslam Safia Bano Ahsan Numan Eisham Sarmad |
| author_sort | Ahmad Nawaz |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-13T02:17:18Z |
| format | Article |
| id | doaj.art-b99c7e1d290c4e088818441ad6d5bf69 |
| institution | Directory Open Access Journal |
| issn | 1662-453X |
| language | English |
| last_indexed | 2024-03-13T02:17:18Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neuroscience |
| spelling | doaj.art-b99c7e1d290c4e088818441ad6d5bf692023-06-30T11:42:13ZengFrontiers Media S.A.Frontiers in Neuroscience1662-453X2023-06-011710.3389/fnins.2023.12262141226214Fahr’s syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorderAhmad NawazAzba AhmadAyesha AslamSafia BanoAhsan NumanEisham SarmadFahr’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.https://www.frontiersin.org/articles/10.3389/fnins.2023.1226214/fullFahr’s syndromehypoparathyroidismmucocutaneous candidiasisautoimmune polyendocrine syndrome type-1 (APS-1)neuromyelitis optica spectrum disorder (NMO-SD) |
| spellingShingle | Ahmad Nawaz Azba Ahmad Ayesha Aslam Safia Bano Ahsan Numan Eisham Sarmad Fahr’s syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder Frontiers in Neuroscience Fahr’s syndrome hypoparathyroidism mucocutaneous candidiasis autoimmune polyendocrine syndrome type-1 (APS-1) neuromyelitis optica spectrum disorder (NMO-SD) |
| title | Fahr’s syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder |
| title_full | Fahr’s syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder |
| title_fullStr | Fahr’s syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder |
| title_full_unstemmed | Fahr’s syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder |
| title_short | Fahr’s syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder |
| title_sort | fahr s syndrome as a manifestation of autoimmune polyendocrine syndrome 1 and its unusual association with neuromyelitis optica spectrum disorder |
| topic | Fahr’s syndrome hypoparathyroidism mucocutaneous candidiasis autoimmune polyendocrine syndrome type-1 (APS-1) neuromyelitis optica spectrum disorder (NMO-SD) |
| url | https://www.frontiersin.org/articles/10.3389/fnins.2023.1226214/full |
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