Hypermanganesemia with Polycythemia and Dystonia in an 8-year-old: A Case Study

Sushma Chowdary V, Sri Aryavalli A, and Charane Sree Aenuginti


Among the essential trace elements, manganese (Mn) is vital due to its antioxidant property and is necessary in several diverse metabolic processes and generation of neurotransmitters. However, high levels of serum Mn levels are toxic to the central nervous system. In addition to the inherited form of Mn intoxication caused by mutations in the autosomal-recessive SLC30A10 gene, which codes for a protein associated with Mn transportation, there is also evidence of acquired Mn intoxication. Hypermanganesemia with dystonia type 1 is a rare autosomal recessive neurodegenerative condition. High serum Mn levels with dystonia’s are associated with syndromes which are hypermanganesemia with dystonia type 1 and type 2. Hypermanganesemia with dystonia type 1 is also called hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC). These inherited disorders are distinguished by the genetic causes and different presentations. Mutations in SLC30A10 are associated with HMDPC, and mutations of SLC39A14 are associated with hypermanganesemia with dystonia type 2. HMDPC is characterized by loss of acquired milestones, dystonia, and Parkinsonian features associated with higher serum Mn levels. MRI (Magnetic Resonance Imaging) findings are characteristic such as bilateral and symmetrical T-1 hyperintensity, and T-2/ fluid – attenuated inversion recovery signal intensity in basal ganglia.

Published on: April 26, 2023
doi: 10.17756/micr.2023-088
Citation:  Chowdary SV, Sri Aryavalli A, Aenuginti CS. 2023. Hypermanganesemia with Polycythemia and Dystonia in an 8-year-old: A Case Study. J Med Imaging Case Rep 7(1):16-18.