A case of type II fucosidosis-diagnosed with neuroradiological and dysmorphological findings

نویسندگان
Agarwal, Aastha ID 1
Chanabasanavar, Vijetha ID 2
Singh, Tejvir ID 3
Khaladkar, Sanjay M ID 4
Dhirawani, Satvik ID 5

1 Department of Radiodiagnosis, Dr. D. Y. Patil Medical College and Research Centre, Pune, Maharashtra, India

2 Department of Radiodiagnosis, Dr. D. Y. Patil Medical College and Research Centre, Pune, Maharashtra, India

3 Department of Radiodiagnosis, Dr. D. Y. Patil Medical College and Research Centre, Pune, Maharashtra, India

4 Department of Radiodiagnosis, Dr. D. Y. Patil Medical College and Research Centre, Pune, Maharashtra, India

5 Department of Radiodiagnosis, Dr. D. Y. Patil Medical College and Research Centre, Pune, Maharashtra, India

doi
10.18502/cjn.v22i4.14534
چکیده

Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by the deficiency of alpha-L-fucosidase which results in accumulation of fucose rich glycoproteins and glycolipids within the lysosomes in skin, peripheral nerves, brain, heart, and other visceral organs. It is caused by biallelic pathogenic variants in FUCA1 gene localized on chromosome 1p36.11 which causes deficiency of alpha-L-fucosidase.

کلیدواژه‌ها
Pediatrics, Neurology, Lysosomal Storage Diseases, Magnetic Resonance Imaging, Inborn Errors of Metabolism