Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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June 15, 2017
Beta-Propeller Protein-Associated Neurodegeneration (BPAN)
- Background:
- BPAN is a type of neurodegeneration with brain iron accumulation (NBIA).
- It demonstrates an X-linked dominant inheritance pattern and involves a mutation in the WDR45 gene that arises de novo.
- Clinical Presentation:
- The clinical course can be divided into 2 phases. The first phase is marked by global developmental delay and seizures during early childhood.
- The course is dormant until adulthood, when the patient starts to develop rapidly progressing parkinsonian symptoms.
- Key Diagnostic Features:
- Once the parkinsonian symptoms appear, brain MRI shows hypointensity in the region of substantia nigra (SN) and globus pallidus (GP) on T2-weighted and susceptibility sequences as a result of iron deposition.
- T1WI demonstrates the unique finding of a hyperintense halo surrounding a hypointense linear streak, formed as a result of neuromelanin release from the degenerating neurons.
- Differential Diagnoses:
- Similar clinical findings with iron accumulation in SN and GP can also be seen in other types of NBIA:
- Pantothenate kinase-associated neurodegeneration (PKAN): characteristic "eye-of-the-tiger" sign
- PLA2G6-associated neurodegeneration (PLAN)
- Mitochondrial membrane protein-associated neurodegeneration (MPAN)
- Neuroferritinopathy
- Similar clinical findings with iron accumulation in SN and GP can also be seen in other types of NBIA:
- Treatment:
- Dopamine agonists
- Levodopa
- Deep brain stimulation
- Symptomatic treatment for dystonia and seizures
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