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A rare case report of van der Knaap disease with Fahr's disease
Journal of Case Reports and Scientific Images · 2024 · Vol. 6(1) · pp. 63–66
Abstract
Van der Knaap is an inherited demyelination disorder characterised by macrocephaly, leukoencephalopathy, and subcortical cysts showing early onset in life. Fahr’s disease is characterised by calcification in globus pallidus, dentate nuclei of cerebellum, and white matter showing late onset in life. Both diseases are rare in occurrence. We aimed to provide a case report of a 25-year-old female patient who underwent CECT and CE-MRI and showed findings of both diseases.
Genomics and Rare DiseasesTracheal and airway disordersMedical Imaging and Pathology StudiesDiseaseMedicinePediatricsInternal medicine
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