Journal of Clinical Sciences

LETTER TO EDITOR
Year
: 2020  |  Volume : 17  |  Issue : 1  |  Page : 9--10

Magnetic resonance imaging findings in case of Huntington's disease


Paramdeep Singh1, Rupinderjeet Kaur2,  
1 Department of Radiology, Guru Gobind Singh Medical College and Hospital, Baba Farid University of Health Sciences, Faridkot, Punjab, India
2 Department of Medicine, Guru Gobind Singh Medical College and Hospital, Baba Farid University of Health Sciences, Faridkot, Punjab, India

Correspondence Address:
Dr. Paramdeep Singh
Department of Radiology, Guru Gobind Singh Medical College and Hospital, Baba Farid University of Health Sciences, Faridkot, Punjab
India




How to cite this article:
Singh P, Kaur R. Magnetic resonance imaging findings in case of Huntington's disease.J Clin Sci 2020;17:9-10


How to cite this URL:
Singh P, Kaur R. Magnetic resonance imaging findings in case of Huntington's disease. J Clin Sci [serial online] 2020 [cited 2020 Feb 27 ];17:9-10
Available from: http://www.jcsjournal.org/text.asp?2020/17/1/9/277751


Full Text



Sir,

A 32-year-old male with a family history of Huntington's chorea presented with progressive symptoms of gait imbalance, dementia, and involuntary movements for the last 3 years. Clinical diagnosis of Huntington's disease was made, and subsequently, the genetic testing was done which showed trinucleotide repeats and hence was positive for this disease. Magnetic resonance imaging (MRI) of the brain revealed atrophy of the bilateral caudate nuclei and putamen along with the hyperintense signal on T2-weighted [Figure 1] and FLAIR images [Figure 2]. There was also associated enlargement of the front horns (FHs) of the bilateral lateral ventricles with a “box-like configuration” due to atrophy of caudate nuclei. There was also associated diffuse cerebral and cerebellar atrophy on the MRI scan. The intercaudate (IC) distance, FH width, and inner table (IT) width were 2.2, 3.3, and 10.8, respectively. Therefore, the ratios of FH width to IC distance (FH/IC ratio) and IC distance to IT width (IC/IT ratio) were 1.5 (normal value = 2.2–2.6) and 0.20 (normal value = 0.09–0.12), respectively[1],[2] [Figure 3].{Figure 1}{Figure 2}{Figure 3}

Huntington's disease is an autosomal dominant hereditary disorder, with loss of GABAergic neurons in the basal ganglia, especially the caudate nuclei and putamen, which are eventually atrophied. The patients usually present with chorea, dementia, and psychosis, which are progressive, with trinucleotide repeats on genetic testing confirming the diagnosis.[3],[4] MRI is a useful investigation to look for associated brain changes. The most prominent features comprise the atrophy of the caudate nuclei that can be quantified using the FH/IC ratio and IC/IT ratio. FH/IC ratio is calculated in the axial plane by dividing the distance between the caudate heads (where they are nearest) and the lateral borders of the FH while IC/IT ratio is calculated by dividing the IC distance with the distance between the IT of the skull bones at the same level. As the caudate nuclei progressively atrophy, the FH/IC ratio increases and IC/IT ratio decreases.[1],[2] Therefore, neuroimaging, especially MRI, may act as a biomarker to assess the progression of this disease.[2]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Ho VB, Chuang HS, Rovira MJ, Koo B. Juvenile Huntington disease: CT and MR features. AJNR Am J Neuroradiol 1995;16:1405-12.
2Paulsen JS, Zimbelman JL, Hinton SC, Langbehn DR, Leveroni CL, Benjamin ML, et al. FMRI biomarker of early neuronal dysfunction in presymptomatic Huntington's disease. AJNR Am J Neuroradiol 2004;25:1715-21.
3Imarisio S, Carmichael J, Korolchuk V, Chen CW, Saiki S, Rose C, et al. Huntington's disease: From pathology and genetics to potential therapies. Biochem J 2008;412:191-209.
4Dormont D, Seidenwurm DJ; Expert Panel on Neurologic Imaging, American College of Radiology. Dementia and movement disorders. AJNR Am J Neuroradiol 2008;29:204-6.