Higgins et al. [3] |
1 |
3 years |
Lower extremities spasticity |
HBLP, acanthocytosis, retinitis pigmentosa, and pallidal degeneration |
Homozygous mutation: |
Marked signal decrease in the pallidal nuclei on T2-weighted images |
Ching et al. [1] |
PANK2: c.1111 A>T |
Houlden et al. [2] |
1 |
18 years |
- |
HBLP, acanthocytosis, retinitis pigmentosa, and pallidal degeneration |
Compound heterozygous mutation: |
Bilateral high signal intensity surrounded by a region of low signal intensity in the medial globus pallidus |
PANK2: c.980 T>C |
PANK2: IVS4–1 G>T |
Orrell et al. [4] |
1 |
16 years |
Intermitent dysphagia. Poor night vision in early childhood |
HBLP, acanthocytosis, retinitis pigmentosa, and pallidal degeneration |
- |
Hypointense signal in the globus pallidus on T2-weighted with an enclosed high-signal region |
Our patient*
|
1 |
5 years |
Psychomotor delay without cognitive affectation, dystonia and spasticity |
Acanthocytosis, retinitis pigmentosa and pallidal degeneration |
Compound heterozygous mutation: |
Symmetrical hypointensity signal in globus pallidus on T2-weighted and FLAIR sequences. Hypointense signal of bilateral globus pallidus. on susceptibility weighted imaging sequences |
PANK2: c.502-512delAGCGCGTC |
PANK2: c.1561G>A |
Orrell et al. [4]*
|
2 |
-N/A |
-N/A |
Acanthocytosis, retinitis pigmentosa and pallidal degeneration |
- |
-Reduced signal in the globus pallidus bilaterally with an internal increased signal region |
-18 months |
-Lower extremities dystonia and clumsiness of hands |
-Low signal in the globus pallidus bilaterally |
Higgins et al. [3]*
|
6 |
-22 months |
- |
Acanthocytosis, retinitis pigmentosa and pallidal degeneration |
- |
-N/A |
-N/A |
-Increased iron uptake in basal ganglia |
-N/A |
-Increased iron uptake in basal ganglia |
-N/A |
-Increased iron uptake in basal ganglia |
-19 months |
-CT: dilated ventricles, widened sulci and folia |
-16 months |
-CT: hyperdense zones in the pallidal nuclei |
Malandrini et al. [5]*
|
2 |
-2 years |
-Delay in reaching motor milestones and frequent falls |
Acanthocytosis, retinitis pigmentosa and pallidal degeneration |
- |
-CT scan at 5 years-old: normal |
-Early childhood |
-Delay in reaching motor milestones and frequent falls, difficulty to speech and walking |
-Bilateral hypointensity of the globus pallidus on T2-weighted sequences, mostly on the right side, with A small central punctate area of Increased signal |
Kazek et al. [6]*
|
1 |
3 years |
Pyramidal signs |
Retinitis pigmentosa, pallidal degeneration |
Compound heterozygous mutation: “Eye of the tiger” sign |
“Eye of the tiger” sign |
PANK2: Leu315His |
PANK2: Gly411Arg |