Neuronal intranuclear hyaline inclusion disease (NIHID) is a rare childhood neurodegenerative disease, usually with unremarkable imaging.
Typically NIHID presents in childhood (3-12 years of age) 2-3 although adult onset has also been described 3. Hereditary cases have been described, and an autosomal recessive pattern of inheritance is suspected 1-2.
The clinical presentation of patients with NIHID can be varied and includes 1-3:
- pyramidal tract signs
- extrapyramidal sings including parkinsonism
- abnormal ocular movements and oculogyric crises
- generalized cognitive degeneration and behavioral changes
- peripheral neuropathy
- severe muscle atrophy and weakness
- sensory impairment in the distal limbs
- autonomic neuropathy
- episodic intestinal pseudoobstruction
- urinary and fecal incontinence
- cardiomyopathy: reported but uncommon
- epilepsy: reported but uncommon
The diagnosis can be made using peripheral nerve biopsy (e.g. sural nerve) 1 or myenteric plexus biopsy (e.g. rectal biopsy)2-3.
NIHID is characterized by accumulation of eosinophilic intranuclear inclusions which can be found widely within both the central and peripheral nervous system including sympathetic and myenteric ganglion neurons, dorsal root ganglion neurons, and spinal motor neurons 1-3.
It is believed to be due to abnormal proteolysis, although the exact mechanism has as yet not been established 2-3.
The intranuclear inclusions fluoresce under ultraviolet light and are composed of uniform, fine straight filaments haphazardly arranged 3.
Usually imaging is non-contributory 3 and its primary role is to exclude other entities which may mimic the condition clinically (see below).
Severe cerebellar cortical atrophy has been reported, particularly involving the vermis 3.
Treatment and prognosis
Neuronal intranuclear hyaline inclusion disease (NIHID) is slowly progressive and has no proven therapy. Death usually occurs before the age of 30 years 3.
Clinically the differential diagnosis includes 3:
- juvenile parkinsonism
- spinocerebellar degneration
- GM2 gangliosidosis
- infantile neuroaxonal dystrophy
- 1. Sone J, Hishikawa N, Koike H et-al. Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy. Neurology. 2005;65 (10): 1538-43. doi:10.1212/01.wnl.0000184490.22527.90 - Pubmed citation
- 2. Menkes JH, Sarnat HB, Maria BL. Child neurology. Lippincott Williams & Wilkins. (2006) ISBN:0781751047. Read it at Google Books - Find it at Amazon
- 3. Fernández-Alvarez E, Aicardi J. Movement disorders in children. MacKeith Press. (2001) ISBN:1898683239. Read it at Google Books - Find it at Amazon
Related Radiopaedia articles
Neurodegenerative diseases are legion and their classification just as protean. A useful approach is to divide them according to underlying pathological process, although even using this schema, there is much overlap and thus resulting confusion.
neurodegenerative MRI brain (an approach)
- measurements and ratios
- midbrain to pons area ratio (for PSP)
- Magnetic Resonance Parkinsonism Index (MRPI) (for PSP)
- frontal horn width to intercaudate distance ratio (FH/CC) (for Huntington disease)
- intercaudate distance to inner table width ratio (CC/IT) (for Huntington disease)
- scoring systems
- measurements and ratios
- typical/classical Alzheimer disease
- variant (e.g. posterior cortical atrophy)
- chronic traumatic encephalopathy (CTE)
- corticobasal degeneration
- frontotemporal lobar degeneration (FTLD) (not all are tau)
- Pick disease
- progressive supranuclear palsy (PSP)
- Alzheimer disease
- cerebral amyloid angiopathy (CAA)
- transthyretine-associated cerebral amyloidosis
- neuronal intranuclear hyaline inclusion disease (NIHID)
- TDP-43 proteinopathies
- spinocerebellar ataxias
- Huntington disease
- hereditary spastic paraplegia
- clinically unclassifiable parkinsonism (CUP)
- Unverricht-Lundborg disease
- prion diseases (not always included as neurodegenerative)