Pantothenate kinase-associated neurodegeneration
In classic PKAN, symptoms typically begin in early childhood with limb dystonia, spasticity, clumsiness, and frequent falls. Most children lose independent ambulation by 10 years of age. There is a stepwise decline with progression to death by early adulthood. Signs and symptoms include progressive dystonia, chorea, rigidity, postural instability, tremor, dysarthria, dysphagia, pigmentary retinal degeneration, dementia, and behavior changes.
Atypical PKAN tends to have a later age of onset with psychiatric disturbances or speech changes and a slower disease progression. Abnormal movements are a common feature, most often dystonia.
G23.0 – Hallervorden-Spatz disease
2992000 – Pigmentary pallidal degeneration
Differential Diagnosis & Pitfalls
- Leigh syndrome – On T2-weighted MRI sequence, you may see symmetric hyperintensities in the basal ganglia but without the surrounding hypointensities from iron accumulation.
- Infantile neuroaxonal dystrophy – Cerebellar atrophy is common.
- Early-onset Parkinson disease
- Wilson disease
- Juvenile-onset Huntington disease
- Rapid-onset dystonia parkinsonism
- GM1 gangliosidosis
- Batten disease