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 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.

[Clinical and epidemiological features in Neuromyelitis Optica Spectrum Disorder]. / Comparaison clinico-épidémiologique des pathologies du spectre des neuromyélites optiques.

INTRODUCTION: Neuromyelitis optica spectrum disorder (NMO-SD) has been recognized for the past decade. Biomarkers such as anti-Aquaporin 4 antibodies (AQP4) and anti-Myelin Oligodendrocyte Glycoprotein (MOG) have been able to classify NMO-SD into several groups. METHODS: A retrospective study was performed in the Strasbourg University Medical Center among patients with AQP4+, MOG+ and double-seronegative NMO to compare their clinical, epidemiological and paraclinical features. RESULTS: Thirty-two patients with NMO were included. The AQP4+ NMO patients had a median of age of 45 years, with associated myelitis in 62.5% of cases and other autoantibodies in 37.5% of cases. The mean number of relapses by clinical history was 3. The mean initial visual acuity during an exacerbation was 0.3 LogMAR, and the visual acuity after an exacerbation was 0.1 LogMAR. MOG+NMO patients had a median age of 23 years, with severely impaired initial visual acuity (0.6 LogMAR) but better recovery (0 LogMAR); optic disc edema was present in 80% of cases; the mean number of relapses on clinical history was 1. AQP4-/MOG- NMO's were more common in women (70%) and were bilateral in 40% of cases. CONCLUSION: The diagnostic characteristics of NMO-SD are becoming increasingly differentiated, with a positive impact on functional prognosis and long-term progression. Other biomarkers have yet to be identified to improve the diagnosis and treatment of these disorders.

Neuromyelitis optica spectrum disorders (NMO-SD) in a Sub-Saharan Africa country: A preliminary study of sixteen Senegalese cases.

BACKGROUND: Neuromyelitis optica (NMO) is an autoimmune disease of the central nervous system. In Sub-Saharan Africa, publications are rare and deal with isolated cases. Our goal was to analyze the characteristics of NMO spectrum disorders in a Senegalese cohort compiled in Dakar. PATIENTS AND METHOD: This was a retrospective descriptive study conducted at the Neurology Department of Fann Teaching Hospital. We included all patients with NMO-SD according to the 2014 diagnostic criteria. RESULTS: Sixteen patients were enrolled, 4 men and 12 women with an average age of 30 years. Ten patients (62.5%) presented an acute myelopathy associated with retrobulbar optic neuritis and 5 (31.25%) had isolated spinal cord injury. Spinal MRI showed abnormal cervical (6 patients), dorsal (4 patients), bulbar-cervical (3 patients) or cervico-dorsal (2 patients) signal extended (≥3 vertebral segments) of the spinal cord. Visual evoked potentials (VEP) showed demyelinating optic nerve involvement in 8 patients. Ten patients were positive to AQP-4 IgG. Systemic corticosteroid therapy was the rule in all patients, associated with azathioprine in 10 of them. The clinical course at 3 months was predominantly favourable (10 patients). CONCLUSION: This cohort is the first one compiled in Dakar. African multicentric epidemiological studies are needed.