Introduction

Neuronal Brain Iron Accumulation (NBIA) is a group of rare progressive neurodegenerative disorders with iron deposition visualised on MRI brain.

Methodology

Case records of children identified with NBIA between December 2015 to December 2017 in a tertiary care hospital in north India were retrospectively reviewed.

Results

In 12 children (7 girls) with NBIA, median age of symptom onset and time to diagnosis were 18 months (IQR:  7months- 8 years) and 8 years (IQR: 2-15 years) respectively.

Commonest presenting symptoms were neuroregression (n=12, 2 children had prior developmental delay), dystonia (n= 7; generalized-4, appendicular-2, oromotor -1) and ataxia (n=6). Hypotonia (n=4), peripheral neuropathy (n=5), ophthalmological abnormality (n=9; optic atrophy-4, pigmentary retinopathy-4, cataract-1) and seizures (n=2) were other clinical features.

Commonest MRI brain abnormality was eye of the tiger sign (bilateral central hyperintensity within hypointense Globus Pallidus on T2 weighted axial images) in 8 children with presumed Pantothenate Kinase associated Neurodegeneration (PKAN), followed by cerebellar atrophy in 4 children with presumed Phospholipase associated Neurodegeneration (PLAN).

Next generation sequencing (done in 8/12 cases) revealed pathogenic mutations in PANK-2 (n=4) and PLA2G6 (n=4) genes.

Conclusion: NBIA should be suspected in children presenting with extrapyramidal features, neuroregression and vision abnormalities with MRI evidence of iron deposition. Currently there is no cure and some may show rapid deterioration with a downhill course. Early diagnosis is imperative for appropriate prognosis and antenatal genetic counselling.