Childhood dystonia
AR · NBIA (brain iron)
GenePANK2 · 20p13
MechanismDefective CoA synthesis →
iron in the globus pallidus
iron in the globus pallidus
InheritanceAutosomal recessive
OnsetClassic <6 yrs; atypical later/slower
A child with progressive dystonia, rigidity and a retinopathy — and an 'eye-of-the-tiger' MRI sign.
Key clinical features
- Progressive dystonia (oromandibular, limb)
- Rigidity / parkinsonism, spasticity
- Pigmentary retinopathy
- Dysarthria, dysphagia
- Cognitive decline (variable)
- Atypical form: slower, speech-led
◆ Signature clue
The “eye-of-the-tiger” sign on T2 MRI — central hyperintensity within a hypointense globus pallidus — plus childhood dystonia → PKAN. (Part of the NBIA family; iron deposits are T2-dark.)
Diagnosis
MRI eye-of-the-tiger; PANK2 gene testing. Differentiate from other NBIA (e.g. PLAN).
Management
Symptomatic — dystonia: anticholinergics, baclofen, botulinum toxin, GPi DBS. Iron chelation (deferiprone) investigational.