Abstract
Neuronal intranuclear (hyaline) inclusion disease (NIID) is a rare neurodegenerative disorder with a variable clinical presentation and multiple subtypes. We present the clinicopathologic details of a patient with juvenile-onset NIID and discuss the pathogenesis. We also discuss the utility of antemortem skin biopsy which was negative in our case.
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References
1.
Dyken
P
Krawiecki
N
. Neurodegenerative diseases of infancy and childhood . Ann Neurol 1983 ; 13 : 351 –364 .
2.
Love
S
. Post mortem sampling of the brain and other tissues in neurodegenerative disease . Histopathology 2004 ; 44 : 309 –317 .
3.
Sone
J
Tanaka
F
Koike
H
et al.
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease . Neurology 2011 ; 76 : 1372 –1376 .
4.
McFadden
K
Hamilton
RL
Insalaco
SJ
et al.
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child . J Neuropathol Exp Neurol 2005 ; 64 : 545 –552 .
5.Takahashi-Fujigasaki . Neuronal intranuclear hyaline inclusion disease (NIHID): an update . Brain Nerve 2015 ; 67 : 199 –204 .
6.
Sone
J
Sobue
G
. Neuronal intranuclear inclusion disease . Brain Nerve 2017 ; 69 : 5 –16 .
7.
Sone
J
Mori
K
Inagaki
T
et al.
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease . Brain 2016 ; 139 : 3170 –3186 .