Long-term follow-up of a child with hypermanganesemia with dystonia, polycythemia and cirrhosis

Jay Kumari; Durray Shahwar; Prem Chand

doi:10.56310/pjns.v21i01.436

Jay Kumari Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan
Durray Shahwar Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan
Prem Chand 1. Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan 2. Section of Pediatric Neurology, Department of Pediatrics Liaquat National Hospital, Karachi, Pakistan.

DOI: https://doi.org/10.56310/pjns.v21i01.436

Keywords: HMDPC, Manganese, EDTA, SLC30A10

Abstract

Hypermanganesemia with dystonia, polycythemia and cirrhosis (HMDPC) is a rare but treatable inherited metal deposition syndrome, which occurs due to mutation in SLC30A10 gene. This leads to increase in manganese (Mn) levels in the blood and its deposition in the brain, muscles and liver which results in extrapyramidal symptoms, polycythemia and/or liver cirrhosis. This case report describes a five-year follow-up of a child with HMDPC treated with ethylenediaminetetraacetic acid (EDTA) as chelation therapy. This case also highlights the importance of early recognition and initiation of treatment for children with HMDPC and emphasizes the need for screening of siblings for early detection. The use of EDTA as chelation showed significant improvement of symptoms in this case, however, literature is yet to report the best treatment option for HMDPC. There is a need for more such case reports to help assess the gold standard of management of HMDPC cases.