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The 'Eye-of-the-Tiger' Sign may be Absent in the Early Stages of Classic Pantothenate Kinase Associated Neurodegeneration
The 'Eye-of-the-Tiger' Sign may be Absent in the Early Stages of Classic Pantothenate Kinase Associated Neurodegeneration
- Source :
- Neuropediatrics. 42:159-162
- Publication Year :
- 2011
- Publisher :
- Georg Thieme Verlag KG, 2011.
-
Abstract
- Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of T2 hypointensity 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.
- Subjects :
- Male
Pathology
medicine.medical_specialty
Pantothenate kinase-associated neurodegeneration
medicine
Humans
Missense mutation
brain iron accumulation, PKAN, eye-of-the-tiger sign
Child
Pantothenate Kinase-Associated Neurodegeneration
medicine.diagnostic_test
business.industry
Neurodegeneration
Brain
Magnetic resonance imaging
General Medicine
PANK2
medicine.disease
Magnetic Resonance Imaging
Hyperintensity
Globus pallidus
nervous system
Child, Preschool
Pediatrics, Perinatology and Child Health
Disease Progression
Neurology (clinical)
Abnormality
business
Subjects
Details
- ISSN :
- 14391899 and 0174304X
- Volume :
- 42
- Database :
- OpenAIRE
- Journal :
- Neuropediatrics
- Accession number :
- edsair.doi.dedup.....fc405d97e0f02fda375502760795641d
- Full Text :
- https://doi.org/10.1055/s-0031-1285925