Rare neurogenetic diseases with paramagnetic material accumulation in the brain: A case series study

Aim: To draw attention to rare neurogenetic diseases that are characterized by paramagnetic substance accumulation in the brain by sharing 12 subjects who presented with different clinical manifestations.
Material and methods: Twelve patients who presented to our clinic between 2009 and 2019 with different complaints and were diagnosed as having FAHR syndrome, PKAN and Wilson disease were analyzed retrospectively. Presentation symptoms, physical examination findings, radiological and laboratory findings and treatment responses of the patients were evaluated.
Results: Seven of the 12 subjects admitted to our clinic over a 5-year period were female, and 5 were male. The median age at the time of presentation was found to be 31-34 years (21-67). All of the patients received a new diagnosis after presentation. The patients presented with various complaints such as progressive walking difficulties, imbalance, disorder of writing ability, tinnitus, agitation, constant crying, convulsion, frequent falls, speech disorder, and slow movement. In the etiology, 4 of the patients were diagnosed with PKAN, 6 patients were diagnosed with FAHR syndrome and 2 patients were diagnosed with isolated neurological symptoms.
Conclusion: Most of the recent developments related to the roles of metals in neurological diseases have arisen from the identification of new genetic diseases. These rare neurogenetic diseases, which can be manifested with many different clinical features ranging from pyramidal and extrapyramidal findings to neuropsychiatric findings, should be considered in the differential diagnosis since they often affect the young population and the rates of disability and mortality can be reduced with early diagnosis.