Abstract
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of Thypointensity in the globus pallidus with a small hyperintensity in its medial part, called the eye-of-the-tiger sign. We report on 2 patients affected by PKAN, in whom MRI examination did not demonstrate the eye-of-the-tiger sign in the early stages; the typical abnormalities were detected only in the following examinations. Case 1 is a 4-year-old boy first studied at age 2 years for psychomotor delay. The brain MRI was normal. In the following 2 years, the motor impairment progressed. The second brain MRI at age 4 years demonstrated the eye-of-the-tiger sign. Molecular analysis of the PANK2 gene revealed a missense mutation F228S in exon 2 in homozygosis. Case 2 is a 6-year-old boy first studied at age 2 years because of psychomotor delay. His brain MRI did not demonstrate abnormalities in the globus pallidus. In the following years spastic-dystonic tetraparesis became evident. A brain MRI at age 4 years demonstrated the eye-of-the-tiger sign. Molecular analysis of the PANK2 gene revealed a missense mutation in exon 5 (N501I). Our 2 cases demonstrate that the observation of a normal globus pallidus in the early stage of the disease does not exclude the diagnosis of classic PKAN.
| Original language | English |
|---|---|
| Pages (from-to) | 159-162 |
| Number of pages | 4 |
| Journal | Neuropediatrics |
| Volume | 42 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 2011 |
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Keywords
- brain iron accumulation
- eye-of-the-tiger sign
- PKAN
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology
Cite this
The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration. / Chiapparini, L.; Savoiardo, M.; Darrigo, S.; Reale, C.; Zorzi, G.; Zibordi, F.; Cordelli, D. M.; Franzoni, E.; Garavaglia, B.; Nardocci, N.
In: Neuropediatrics, Vol. 42, No. 4, 2011, p. 159-162.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration
AU - Chiapparini, L.
AU - Savoiardo, M.
AU - Darrigo, S.
AU - Reale, C.
AU - Zorzi, G.
AU - Zibordi, F.
AU - Cordelli, D. M.
AU - Franzoni, E.
AU - Garavaglia, B.
AU - Nardocci, N.
PY - 2011
Y1 - 2011
N2 - Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of Thypointensity in the globus pallidus with a small hyperintensity in its medial part, called the eye-of-the-tiger sign. We report on 2 patients affected by PKAN, in whom MRI examination did not demonstrate the eye-of-the-tiger sign in the early stages; the typical abnormalities were detected only in the following examinations. Case 1 is a 4-year-old boy first studied at age 2 years for psychomotor delay. The brain MRI was normal. In the following 2 years, the motor impairment progressed. The second brain MRI at age 4 years demonstrated the eye-of-the-tiger sign. Molecular analysis of the PANK2 gene revealed a missense mutation F228S in exon 2 in homozygosis. Case 2 is a 6-year-old boy first studied at age 2 years because of psychomotor delay. His brain MRI did not demonstrate abnormalities in the globus pallidus. In the following years spastic-dystonic tetraparesis became evident. A brain MRI at age 4 years demonstrated the eye-of-the-tiger sign. Molecular analysis of the PANK2 gene revealed a missense mutation in exon 5 (N501I). Our 2 cases demonstrate that the observation of a normal globus pallidus in the early stage of the disease does not exclude the diagnosis of classic PKAN.
AB - Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of Thypointensity in the globus pallidus with a small hyperintensity in its medial part, called the eye-of-the-tiger sign. We report on 2 patients affected by PKAN, in whom MRI examination did not demonstrate the eye-of-the-tiger sign in the early stages; the typical abnormalities were detected only in the following examinations. Case 1 is a 4-year-old boy first studied at age 2 years for psychomotor delay. The brain MRI was normal. In the following 2 years, the motor impairment progressed. The second brain MRI at age 4 years demonstrated the eye-of-the-tiger sign. Molecular analysis of the PANK2 gene revealed a missense mutation F228S in exon 2 in homozygosis. Case 2 is a 6-year-old boy first studied at age 2 years because of psychomotor delay. His brain MRI did not demonstrate abnormalities in the globus pallidus. In the following years spastic-dystonic tetraparesis became evident. A brain MRI at age 4 years demonstrated the eye-of-the-tiger sign. Molecular analysis of the PANK2 gene revealed a missense mutation in exon 5 (N501I). Our 2 cases demonstrate that the observation of a normal globus pallidus in the early stage of the disease does not exclude the diagnosis of classic PKAN.
KW - brain iron accumulation
KW - eye-of-the-tiger sign
KW - PKAN
UR - http://www.scopus.com/inward/record.url?scp=80053045912&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=80053045912&partnerID=8YFLogxK
U2 - 10.1055/s-0031-1285925
DO - 10.1055/s-0031-1285925
M3 - Article
C2 - 21877312
AN - SCOPUS:80053045912
VL - 42
SP - 159
EP - 162
JO - Neuropediatrics
JF - Neuropediatrics
SN - 0174-304X
IS - 4
ER -