Subject(s)
Cogan Syndrome/diagnosis , Keratitis/diagnosis , Female , Hearing Loss, Sensorineural/diagnosis , Humans , Young AdultABSTRACT
BACKGROUND: Vanishing white matter disease (VWMD) is a rare disease affecting cerebral white matter. The adult form is even rarer and manifests with motor symptoms, behavioral problems, and dementia. There is no treatment and progression is inevitable. We describe a case with atypical manifestations and an unusual course. METHODS: Description of a 42-year-old man with VWMD complaining of progressive visual loss in the right eye. RESULTS: The patient's visual acuity was 20/60, right eye, and 20/25, left eye, with pale optic nerves bilaterally. MRI showed atrophy of the corpus callosum, diffuse rarefaction of cerebral white matter including the anterior and posterior visual pathways. CONCLUSION: Our patient had no further symptoms besides loss of visual acuity, which is rare in patients with VWMD of the same age and genetic mutation.
Subject(s)
Leukoencephalopathies/diagnosis , Optic Nerve Diseases/diagnosis , Vision Disorders/diagnosis , Adult , Chromosomes, Human, Pair 3/genetics , Disease Progression , Eukaryotic Initiation Factor-2B/genetics , Humans , Leukoencephalopathies/genetics , Magnetic Resonance Imaging , Male , Mutation , Optic Nerve Diseases/genetics , Tomography, Optical Coherence , Vision Disorders/genetics , Visual Acuity/physiology , Visual Field Tests , Visual Fields/physiologyABSTRACT
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare and autosomal recessive syndrome. We describe 2 cases of HGPPS which are the first documented in patients of African ancestry from an isolated population in Cape Verde. They demonstrated typical findings on neuro-ophthalmic examination and brain magnetic resonance imaging. One patient had novel heterozymous mutations of the ROB0 3 gene.
