Case 32
History:
17 year old male with movement disorder
Findings:
Axial T2WI and FLAIR showing abnormal hyperintensity signal and atrophy involving the caudate nuclei and putamen resulting in ballooning of the frontal horns
Diagnosis:
Huntington's disease (HD)
Discussion:
Huntington’s disease, chorea, or disorder (HD), is a is a relentlessly progressive, fatal
Huntington’s disease, chorea, or disorder (HD), is a is a relentlessly progressive, fatal neurodegenerative genetic disorder. It is typically an adult-onset, autosomal dominant inherited disorder. Juvenile form of HD (ie, onset of HD in patients younger than 20 years) accounts for approximately 5-10% of all affected cases.
The most striking neuropathology in HD occurs within the neostriatum, in which gross atrophy of the caudate nucleus and putamen occurs.
Clinically the disorder include, movement disorder, a cognitive disorder, and a behavioral disorder. Chorea is the most common movement disorder.
On imaging, HD presents with atrophy of the caudate nuclei resulting in “ballooning” of the frontal horns. Putaminal atrophy is often associated. Corresponding hyperintensity signal of the affected nuclei is often present on T2WI and FLAIR.
