Book contents
- Frontmatter
- Contents
- List of contributors
- List of abbreviations
- Preface
- Section 1 Bilateral Predominantly Symmetric Abnormalities
- 1 Hepatic Encephalopathy
- 2 Neurofibromatosis Type 1 – UBOs
- 3 Carbon Monoxide Intoxication
- 4 Pantothenate Kinase-Associated Neurodegeneration (Hallervorden–Spatz Syndrome)
- 5 Methanol Intoxication
- 6 Wilson Disease 12
- 7 Hypoxic Ischemic Encephalopathy in Term Neonates
- 8 Cryptococcosis
- 9 Gangliosidosis GM2
- 10 Leigh Disease
- 11 Deep Cerebral Vein Thrombosis (DCVT)
- 12 Creutzfeldt-Jakob Disease (CJD)
- 13 Global Cerebral Anoxia in Mature Brain
- 14 Wernicke Encephalopathy
- 15 Amyotrophic Lateral Sclerosis
- 16 Glutaric Aciduria Type 1
- 17 Subcortical Band Heterotopia
- 18 Bilateral Perisylvian Polymicrogyria (BPP)
- 19 Lissencephaly
- 20 Herpes Simplex Encephalitis
- 21 Limbic Encephalitis
- 22 CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
- 23 Megalencephalic Leukoencephalopathy with Subcortical Cysts
- 24 Canavan Disease
- 25 HIV Encephalopathy
- 26 Radiation- and Chemotherapy-Induced Leukoencephalopathy
- 27 Leukoaraiosis (Microangiopathy)
- 28 Periventricular Edema in Acute Hydrocephalus
- 29 Hypoglycemia
- 30 X-Linked Adrenoleukodystrophy (X-ALD)
- 31 Periventricular Leukomalacia (PVL)
- 32 Posterior Reversible Encephalopathy Syndrome (PRES, Hypertensive Encephalopathy)
- 33 Alexander Disease
- 34 Metachromatic Leukodystrophy
- 35 Neurodegenerative Langerhans Cell Histiocytosis (ND-LCH)
- 36 Remote Cerebellar Hemorrhage
- 37 Spontaneous Intracranial Hypotension
- Section 2 Sellar, Perisellar and Midline Lesions
- Section 3 Parenchymal Defects or Abnormal Volume
- Section 4 Abnormalities Without Significant Mass Effect
- Section 5 Primarily Extra-Axial Focal Space-Occupying Lesions
- Section 6 Primarily Intra-Axial Masses
- Section 7 Intracranial Calcifications
- Index
- References
4 - Pantothenate Kinase-Associated Neurodegeneration (Hallervorden–Spatz Syndrome)
from Section 1 - Bilateral Predominantly Symmetric Abnormalities
Published online by Cambridge University Press: 05 August 2013
By
Book contents
- Frontmatter
- Contents
- List of contributors
- List of abbreviations
- Preface
- Section 1 Bilateral Predominantly Symmetric Abnormalities
- 1 Hepatic Encephalopathy
- 2 Neurofibromatosis Type 1 – UBOs
- 3 Carbon Monoxide Intoxication
- 4 Pantothenate Kinase-Associated Neurodegeneration (Hallervorden–Spatz Syndrome)
- 5 Methanol Intoxication
- 6 Wilson Disease 12
- 7 Hypoxic Ischemic Encephalopathy in Term Neonates
- 8 Cryptococcosis
- 9 Gangliosidosis GM2
- 10 Leigh Disease
- 11 Deep Cerebral Vein Thrombosis (DCVT)
- 12 Creutzfeldt-Jakob Disease (CJD)
- 13 Global Cerebral Anoxia in Mature Brain
- 14 Wernicke Encephalopathy
- 15 Amyotrophic Lateral Sclerosis
- 16 Glutaric Aciduria Type 1
- 17 Subcortical Band Heterotopia
- 18 Bilateral Perisylvian Polymicrogyria (BPP)
- 19 Lissencephaly
- 20 Herpes Simplex Encephalitis
- 21 Limbic Encephalitis
- 22 CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
- 23 Megalencephalic Leukoencephalopathy with Subcortical Cysts
- 24 Canavan Disease
- 25 HIV Encephalopathy
- 26 Radiation- and Chemotherapy-Induced Leukoencephalopathy
- 27 Leukoaraiosis (Microangiopathy)
- 28 Periventricular Edema in Acute Hydrocephalus
- 29 Hypoglycemia
- 30 X-Linked Adrenoleukodystrophy (X-ALD)
- 31 Periventricular Leukomalacia (PVL)
- 32 Posterior Reversible Encephalopathy Syndrome (PRES, Hypertensive Encephalopathy)
- 33 Alexander Disease
- 34 Metachromatic Leukodystrophy
- 35 Neurodegenerative Langerhans Cell Histiocytosis (ND-LCH)
- 36 Remote Cerebellar Hemorrhage
- 37 Spontaneous Intracranial Hypotension
- Section 2 Sellar, Perisellar and Midline Lesions
- Section 3 Parenchymal Defects or Abnormal Volume
- Section 4 Abnormalities Without Significant Mass Effect
- Section 5 Primarily Extra-Axial Focal Space-Occupying Lesions
- Section 6 Primarily Intra-Axial Masses
- Section 7 Intracranial Calcifications
- Index
- References
Summary
Specific Imaging Findings
In pantothenate kinase-associated neurodegeneration (PKAN, formerly known as Hallervorden–Spatz syndrome), MRI shows markedly hypointense globi pallidi on T2-weighted images, with a small hyperintense central or anteromedial area. This finding has been labelled the “eye-of-the-tiger” sign and is highly characteristic of PKAN; it is visible on both axial and coronal images. Gradient-echo T2*-weighted images show more profound hypointensity owing to paramagnetic effects. T1-weighted images may show a corresponding high signal intensity of the pallida. There is no contrast enhancement. CT may reveal symmmetrically increased attenuation, primarily in the anteromedial globus pallidus.
Pertinent Clinical Information
This rare autosomal recessive disorder is a part of a group of diseases called “neurodegeneration with brain iron accumulation” (NBIA) which also includes aceruloplasminemia and neuroferritinopathy. PKAN typically presents in older children or adolescents with oromandibular dystonia, mental deterioration, pyramidal signs, and retinal degeneration. Most patients die within 10 years of the clinical onset, although longer survival into early adulthood is possible.
Differential Diagnosis
HARP Syndrome (hypopre-β-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration)
• may be indistinguishable
Other Forms of NBIA
• “eye-of-the-tiger” sign absent
Toxic Encephalopathies (CO poisoning) (3)
• globus pallidus T2 hyperintensity without hypointense portion
Kernicterus
• globus pallidus T2 hyperintensity without hypointense portion
Methylmalonic Acidemia
• globus pallidus T2 hyperintensity without hypointense portion
Normal Iron Deposition
• iron starts accumulating in the pallidi during later childhood and adolescence and is usually seen on MRI from approximately 25 years of age onwards
Information
- Type
- Chapter
- Information
- Brain Imaging with MRI and CTAn Image Pattern Approach, pp. 9 - 10Publisher: Cambridge University PressPrint publication year: 2012
References
1. . Pantothenate kinase-associated neurodegeneration (Hallervorden–Spatz syndrome). Eur J Pediatr Neurol 2002;6:243–7.CrossRefGoogle ScholarPubMed
2. , , . Hallervorden–Spatz disease: clinical and MRI study of 11 cases diagnosed in life. J Neurol 1992;239:417–25.CrossRefGoogle ScholarPubMed
3. , , , et al.A novel pantothenate kinase gene (PANK2) is defective in Hallervorden–Spatz syndrome. Nature Genet 2001;28:345–9.CrossRefGoogle ScholarPubMed
4. , , , et al.Hallervorden–Spatz disease: MR and pathologic findings. AJNR 1993;14:155–62.Google ScholarPubMed
5. , , , et al.HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology 2002;58:1673–4.CrossRefGoogle ScholarPubMed
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