Forkhead box C1 gene variant causing glaucoma and small vessel angiopathy can mimic multiple sclerosis

Multiple Sclerosis and Related Disorders
Jagannadha R AvasaralaCurtis R Rogers

Abstract

A 34-year old Caucasian female was initially diagnosed with multiple small-vessel strokes at age 20 years which were etiologically classified as secondary to anti-phospholipid antibody syndrome (APS) although she had no history or laboratory data to suggest APS. Based on her MRI of brain findings, one of her neurologists was concerned she could have multiple sclerosis (MS) and hence the patient was referred to our clinic for further evaluation. The patient's MRI of brain showed confluent lesions in the periventricular and juxta-cortical lesions that fulfil 2017 McDonald criteria for dissemination in space. She had no symptoms other than occasional, mild headaches and had no findings to suggest clinically isolated syndrome (CIS) or MS; additionally, her cerebrospinal fluid analysis was unremarkable. Past history showed that she had undergone surgery for glaucoma, and subsequently developed bilateral sensorineural hearing loss in the third decade that was diagnosed as Meniere's disease. Her family history revealed that her son had dysmorphic facies and was small for age. He had a bifid uvula, bilaterally duplicated thumbs and scoliosis. Additionally, he had hypertelorism, a wide forehead and flattening of mid-face. Due to his com...Continue Reading

Citations

Aug 28, 2020·Frontiers in Neurology·Sahil ChhabdaKshitij Mankad
Jul 29, 2020·Human Molecular Genetics·Jesús-José Ferre-FernándezElena V Semina

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