Background
Neurodegeneration with brain iron accumulation (NBIA) comprises a group of rare and heterogeneous genetic disorders, in which early diagnosis can be challenging.
Cases
Retrospective review of clinical, neurophysiological, radiological, and molecular data from 18 pediatric NBIA patients (2004–2024): PLAN (n=9), PKAN (n=6), BPAN (n=3). Median age at symptom onset was 12months and at diagnosis 5years, with no significant intergroup differences. Initial symptoms included developmental delay and regression. Key findings: cognitive impairment (100%), dystonia (83%), spasticity (72%). Epilepsy was more frequent in BPAN (100%) than PLAN (44%) or PKAN (16%). MRI findings, including the “eye of the tiger” sign and cerebellar atrophy, aided subtype differentiation. Four PKAN patients underwent DBS-GPi with transient benefit. Mortality was high (61% before 19years), mainly due to respiratory complications.
Conclusions
This is the largest pediatric NBIA series in Portugal, aiming to improve characterization and differentiation of this disorder group.