Dravet syndrome Presenting with Extrapyramidal Features, Ataxia and Basal Ganglia Hyperintensity on Brain Magnetic Resonance Imaging

ABSTRACT The parieto-occipital region of the brain is the most frequently and severely affected in subacute sclerosing panencephalitis (SSPE). The basal ganglia, cerebellum and corpus callosum are less commonly involved. We describe a patient with SSPE confirmed by neuropathology based on brain magnetic resonance imaging showing extensive basal ganglia involvement and no significant involvement of other cortical structures. Though rarely described in SSPE, clinicians should be aware of this involvement. SSPE should be kept in mind when changes in basal ganglia signal are seen on brain magnetic resonance imaging with or without involvement of other regions of the human brain to avoid erroneous etiological diagnosis of other pathologies causing rapidly progressive dementia.

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Deletion at 2q24.3-31.1 resulting in severe Epileptic Encephalopathy and Episodic Autonomic Storming

Journal of the International Child Neurology Association ◽

10.17724/jicna.2016.118 ◽

2017 ◽

Author(s):

Maureen A Flynn ◽

Laurie Douglass ◽

Mandeep Rana ◽

Asim Mian ◽

Jeff M Milunsky

Keyword(s):

Magnetic Resonance Imaging ◽

Intellectual Disability ◽

Magnetic Resonance ◽

Brain Magnetic Resonance Imaging ◽

Epileptic Encephalopathy ◽

Dravet Syndrome ◽

Temperature Sensitive ◽

Resonance Imaging ◽

Treatment Resistant ◽

Scn1a Gene

We describe an 11.5-year-old male who has profound intellectual disability, treatment resistant epilepsy with temperature sensitive seizures, and paroxysms of autonomic storming, atypical brain magnetic resonance imaging, and microcephaly. He has a 5.7 Mb deletion at 2q24.3-31.1, which includes the SCN1A gene. This is the first report of periodic and recurrent autonomic storming associated with Dravet syndrome, which is both prevented and treated with clonidine. Comparison to other reported individuals with the same deletion and genotype-phenotype correlations are discussed.

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Castellanos, F.X., Giedd, J.M., Marsh, W.L., et al. (1996). Quantitative brain magnetic resonance imaging in ADHD. Archives of General Psychiatry, 53, 607-616. Aylward, E.H., Reiss, A.L., Reader, M.J., et al. (1996). Basal ganglia volumes in children with ADHD. Journal of Child Neurology, 11, 112-115. Filipek, P.A., Semrud-Clikeman, M., Steingard, R.J., et al. (1997). Volumetric MRI analysis comparing subjects having ADHD with normal controls. Journal of Neurology, 48, 589-601.

Journal of Attention Disorders ◽

10.1177/108705479800200405 ◽

1998 ◽

Vol 2 (4) ◽

pp. 249-249

Keyword(s):

Magnetic Resonance Imaging ◽

Basal Ganglia ◽

Magnetic Resonance ◽

Brain Magnetic Resonance Imaging ◽

Resonance Imaging ◽

Volumetric Mri ◽

Child Neurology ◽

Children With Adhd ◽

General Psychiatry ◽

Normal Controls

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T1-weighted Hyperintensity in Basal Ganglia at Brain Magnetic Resonance Imaging:

NeuroToxicology ◽

10.1016/s0161-813x(02)00016-5 ◽

2002 ◽

Vol 23 (6) ◽

pp. 669-674 ◽

Cited By ~ 31

Author(s):

Elena Herrero Hernandez ◽

Maria Consuelo Valentini ◽

Gianluigi Discalzi

Keyword(s):

Magnetic Resonance Imaging ◽

Basal Ganglia ◽

Magnetic Resonance ◽

Brain Magnetic Resonance Imaging ◽

Resonance Imaging

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Transient Brain Magnetic Resonance Imaging Hyperintensity in Basal Ganglia and Brain Stem of Epileptic Infants Treated With Vigabatrin

Journal of Child Neurology ◽

10.1177/0883073808324219 ◽

2009 ◽

Vol 24 (3) ◽

pp. 305-315 ◽

Cited By ~ 23

Author(s):

Mathieu Milh ◽

Nathalie Villeneuve ◽

Fréderique Chapon ◽

Sandrine Pineau ◽

Sylvie Lamoureux ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Basal Ganglia ◽

Magnetic Resonance ◽

Brain Stem ◽

Brain Magnetic Resonance Imaging ◽

Resonance Imaging

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Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders

Journal of Pediatric Genetics ◽

10.1055/s-0041-1723959 ◽

2021 ◽

Author(s):

Prajnya Ranganath ◽

Mallikarjun Patil

Keyword(s):

Magnetic Resonance Imaging ◽

Basal Ganglia ◽

Magnetic Resonance ◽

Neurodegenerative Disorders ◽

Brain Magnetic Resonance Imaging ◽

Iron Accumulation ◽

Resonance Imaging ◽

Brain Iron ◽

Mri Brain ◽

Magnetic Resonance Imaging Mri

AbstractThe “eye-of-the-tiger” sign in brain magnetic resonance imaging (MRI) is typically associated with neurodegeneration with brain iron accumulation disorders, especially pantothenate kinase-associated neurodegeneration. However, very similar neuroimaging findings may be seen in other neurodegenerative disorders involving the basal ganglia. We report here a patient with fucosidosis who had MRI brain findings closely resembling the “eye-of-the-tiger” sign.

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