Cerebral involvement in pseudoxanthoma elasticum: Case report

Abstract

Pseudoxanthoma elasticum (PXE) is a rarely seen connective tissue disease which is characterized by progressive fragmentation and calcification of elastic fibers. Generally it is characterized by cutaneus, ocular and vascular system involvement and neurological complications are usually secondary to vascular insufficiency. 43 years old male patient had a progressive dysarthria, ataxia and vision loss which started many years ago referred to our clinic. Loose skin was seen on bilateral his axillar region and neck with atrophic, pale viola macular lesions on his body. There was "angiloid streaks" on fundus examination and skin biopsy showed calcified degenerated elastic fibers on middle and deep dermis. Diffuse white matter lesions were determined on cranial imaging. To keep in mind the diagnosis of rare diseases would be helpful in early diagnosis and treatment, reducing and even preventing systemic complications.