Ontology highlight
ABSTRACT:
SUBMITTER: Goldberg M
PROVIDER: S-EPMC6695239 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Goldberg Madeline M Malik Khizar K Jiswant Rekha R Khaku Aunali S AS
Cureus 20190618 6
A 68-year-old male patient presented to the neurology clinic with tremor, lightheadedness, and a history of syncope. Exam showed mild Parkinsonism. Neuroimaging revealed symmetric lesions of the globus pallidus (the eye-of-the-tiger sign) concerning for neurodegeneration with brain iron accumulation (NBIA). Genetic panel for NBIA was ordered, specifically pantothenate kinase-associated neurodegeneration (PKAN), including pantothenate kinase 2 (PanK2) - the genetic marker for the pantothenate kin ...[more]