Love Oral Boards - Eponyms

Front 1

Hallervorden Spatz

Back 1

Hallervorden-Spatz Syndrome

Preferred terms: Pantothenate kinase-associated neurodegeneration (PKAN) or NBIA-1
Progressive neurodegenerative disorder with brain iron accumulation
"Eye of the tiger": Symmetric GP T2 hyperintensity surrounded by hypointensity
May see T1 hyperintensity in T2 hypointense areas (iron accumulation)

Front 2

Fahr dz

Back 2

Rare degenerative neurological disorder

Extensive bilateral basal ganglia (BG) calcifications (Ca++)

Can lead to
- progressive dystonia
- parkinsonism
- neuropsychiatric manifestations

Also known as cerebrovascular ferrocalcinosis

AD (sometimes AR)

Front 3

McCune-Albright

Back 3

McCune-Albright syndrome (MAS)

Subtype of polyostotic fibrous dysplasia (FD)

Classic triad
- polyostotic FD
- endocrine dysfunction (precocious puberty most common)
- cutaneous hyperpigmentation (café au lait skin pigmentation)

Female > > male

Represents 3-5% of FD cases

Front 4

Joubert's Syndrome

Back 4

Vermian hypoplasia

AR

elnlarged fourth ventricle

lack of midline fusion of the cerebellum

heterotopic or dysplastic cerebellar nucleii

Front 5

Jakob-Creutzfeld Dz

Back 5

Prion transmission

Symmetric increased signal on T2W in BG, cortex

Cortical atrophy

Restricted diffusion in BG and involved cortex

p/w:
- progressive dementia
- myoclonus
- periodic sharp wave complexes