August 23, 2026

@michaelokun

What resonates with me about this remarkable case is how neurodegeneration with brain iron accumulation (NBIA) can hide in plain sight when the phenotype does not follow the textbook. This 31-year-old woman developed abrupt postpartum psychosis and catatonia followed by severe dystonia, rigidity and cognitive impairment, and the initial differential appropriately included postpartum psychosis, autoimmune encephalitis, neuroleptic malignant syndrome and other metabolic, toxic, genetic and neurodegenerative causes of dystonia-parkinsonism. Yet the critical clue was sitting on the MRI: the scan was initially called normal, but careful re-review of susceptibility-sensitive imaging revealed iron deposition in the globus pallidus and substantia nigra, with the characteristic medial medullary lamina signal that pointed toward mitochondrial membrane protein-associated neurodegeneration (MPAN); genetic testing then confirmed biallelic pathogenic C19orf12 variants. What really resonates with me is how easily this could have been missed: MPAN usually begins around age 10 and progresses gradually, whereas this woman presented after age 30, abruptly postpartum, and initially with psychiatric symptoms. The lesson is powerful: when psychosis is accompanied by dystonia, parkinsonism, pyramidal signs, cognitive change or an unusual clinical trajectory, look again at the MRI, and specifically look for iron with SWI/T2* sequences. Sometimes the diagnosis is not absent from the scan; we simply have not yet asked the scan the right question. https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.70774