Figure 1
MRI of brain
Brain Axial T1 image: There\'s mild cortical atrophy with enlargement of the frontal horns of lateral ventricle giving them a \"box-like configuration\".
Huntington’s Disease - An easily overlooked entity
SectionNeuroradiology
Case TypeClinical Cases
AuthorsRishi Philip Mathew, Binston Thomas, Ram Shenoy Basti
Connected authors
39 years, male
Clinical History
A 39-year-old male patient presented with history of choreoathetoid movements for 8 years. On further evaluation he had delusions of persecution, suspicion, infidelity and also dementia. Family history revealed his father has choreoathetoid disorder. There were no other comorbidities. He was referred for MRI to rule out organic cause.
Imaging Findings
Brain Axial (T1, T2, and T2-FLAIR) and Coronal (T2) MR sequences shows mild atrophic changes in head of caudate nuclei & putamen bilaterally. There’s enlargement of the frontal horns of lateral ventricle (giving them a “box-like” configuration). There’s also mild cortical atrophy. The frontal horn / intercaudate distance ratio (FH/CC) = 1.3 & Intercaudate / Inner table distance ratio (CC/IT) = 0.23, were in the abnormal range.
Discussion
Huntington’s disease (HD) is an autosomal-dominant terminal degenerative disease caused by an abnormal number of repeats of the cytosine-adenine-guanine (CAG) in the gene of chromosome 4 [1, 2].
HD patients usually present during adulthood (30-40 yrs) with choreoathetoid movements (“Huntington chorea”), progressive dementia and behavioural disturbance. However, childhood onset is seen in 1- 6% of HD patients. Unlike adults, juvenile HD patients present with cerebellar symptoms, mental deterioration, seizures, “parkinson-like” rigidity and hypokinesis. Chorea, which is characteristic for adult HD, is rarely seen in the initial stages of juvenile HD form, making its diagnosis difficult until late in its course. Clinical symptoms commonly predate CT & MRI findings. HD has no clear sex predilection. However, sex related factors affect the age of presentation. It appears that HD will have an earlier onset and faster progression in children of male patients as compared to those of female patients. Patients presenting with HD in the first 2 decades of life will have the father as the affected parent 70% of the time.
The main imaging feature of HD on CT & MR is that of caudate atrophy, which can be quantified by the use of ratios that compare the intercaudate distance (CC) to other internal standards — most commonly, frontal horn (FH) width and calvarial width (inner table [IT]). Normal FH/CC ratio = 2-3 and CC/IT ratio = 0.03-0.14. In HD, FH/CC ratio is decreased and CC/IT ratio is increased. MR has advantages over CT, with its ability to detect subtle changes in the caudate nuclei and putamina such as increased signal intensity which may prove more helpful in the detection of early HD [3]. Diffusion-weighted MRI (DWI) imaging show increased ADC in the caudate nucleus and whole brain of HD carriers [4].
The adult form of HD has a slower course, inevitably leading to death in 14 - 15 yrs, while juvenile form is more rapidly progressive, with death occurring in in 7 - 8 yrs [3].
HD patients usually present during adulthood (30-40 yrs) with choreoathetoid movements (“Huntington chorea”), progressive dementia and behavioural disturbance. However, childhood onset is seen in 1- 6% of HD patients. Unlike adults, juvenile HD patients present with cerebellar symptoms, mental deterioration, seizures, “parkinson-like” rigidity and hypokinesis. Chorea, which is characteristic for adult HD, is rarely seen in the initial stages of juvenile HD form, making its diagnosis difficult until late in its course. Clinical symptoms commonly predate CT & MRI findings. HD has no clear sex predilection. However, sex related factors affect the age of presentation. It appears that HD will have an earlier onset and faster progression in children of male patients as compared to those of female patients. Patients presenting with HD in the first 2 decades of life will have the father as the affected parent 70% of the time.
The main imaging feature of HD on CT & MR is that of caudate atrophy, which can be quantified by the use of ratios that compare the intercaudate distance (CC) to other internal standards — most commonly, frontal horn (FH) width and calvarial width (inner table [IT]). Normal FH/CC ratio = 2-3 and CC/IT ratio = 0.03-0.14. In HD, FH/CC ratio is decreased and CC/IT ratio is increased. MR has advantages over CT, with its ability to detect subtle changes in the caudate nuclei and putamina such as increased signal intensity which may prove more helpful in the detection of early HD [3]. Diffusion-weighted MRI (DWI) imaging show increased ADC in the caudate nucleus and whole brain of HD carriers [4].
The adult form of HD has a slower course, inevitably leading to death in 14 - 15 yrs, while juvenile form is more rapidly progressive, with death occurring in in 7 - 8 yrs [3].
Differential Diagnosis List
Huntington’s disease
Adult Variant: • Neuroacanthocytosis • Creutzfeldt Jakob Disease • “ Huntington’s Disease Like (HDL) Disorders” : HDL-1 • ‘‘Hallervorden–Spatz syndrome’’
Juvenile Variant: • Leigh Disease • Wilson Disease
Final Diagnosis
Huntington’s disease
References
[1] Roos RA. (2010) Huntington\'s disease: a clinical review. Orphanet J Rare Diseases 5(1):40. (PMID: 21171977)
[2] Paulsen JS, Nehl C, Hoth KF, Kanz JE, Benjamin M, Conybeare R, McDowell B, Turner B. (2005) Depression and stages of Huntington\'s disease. J Neuropsychiatry Clin Neurosci 17(4):496-502. (PMID: 16387989)
[3] Ho VB, Chuang HS, Rovira MJ, Koo B. (1995) Juvenile Huntington disease: CT and MR features. AJNR Am J Neuroradiol 16(7):1405-12 (PMID: 7484624)
[4] Mascalchi M, Lolli F, Della Nave R, Tessa C, Petralli R, Gavazzi C, Politi LS, Macucci M, Filippi M, Piacentini S. (2004) Huntington disease: volumetric, diffusion-weighted, and magnetization transfer MR imaging of brain. Radiology 232(3):867-73 (PMID: 15215553)
Case information
| URL: | https://eurorad.org/case/11247 |
| DOI: | 10.1594/EURORAD/CASE.11247 |
| ISSN: | 1563-4086 |
Figure 2
MRI of brain
Brain Axial T2-FLAIR image: There\'s mild cortical atrophy with enlargement of the frontal horns of lateral ventricle. There\'s also atrophy of the head of caudate nucleus bilaterally.
Figure 3
MRI of brain - T2 sequences
Figure 4
MRI Brain: Calculating Normal FH/CC & CC/IT ratios
Brain Axial T2 image showing normal FH/CC (2.28), CC/IT (0.12) ratios in a normal person (normal FH/CC ratio = 2-3, CC/IT ratio= 0.03-0.140). Inner table width is measured at the level of intercaudate distance.
Figure 5
Abnormal FH/CC & CC/IT ratios in our patient
Brain Axial T2 image: our patient showing abnormal FH/CC (1.3) and CC/IT (0.23) ratios.
Figure 6
MRI of brain
Brain Coronal T2 image: shows prominent anterior horns of lateral ventricle with atrophy of the head of caudate nuclei bilaterally. There\'s also mild enlargement of the third ventricle.
MRI of brain
Brain Axial T1 image: There\'s mild cortical atrophy with enlargement of the frontal horns of lateral ventricle giving them a \"box-like configuration\".
Department of Radio-diagnosis, Father Muller Medical College, Mangalore, Karnataka, India.
Department of Radio-diagnosis, Father Muller Medical College, Mangalore, Karnataka, India.
MRI of brain
Brain Axial T2-FLAIR image: There\'s mild cortical atrophy with enlargement of the frontal horns of lateral ventricle. There\'s also atrophy of the head of caudate nucleus bilaterally.
Department of Radio-diagnosis, Father Muller Medical College, Mangalore, Karnataka, India.
Department of Radio-diagnosis, Father Muller Medical College, Mangalore, Karnataka, India.
MRI of brain - T2 sequences
Brain Axial T2 image: There\'s mild cerebral atrophy with enlargement of the frontal horns of lateral ventricle giving them a \"box-like configuration\". There\'s also atrophy of the head of caudate nucleus bilaterally.
Department of Radio-diagnosis, Father Muller Medical College, Mangalore, Karnataka, India.
Department of Radio-diagnosis, Father Muller Medical College, Mangalore, Karnataka, India.
Brain Axial T2 image: shows a dilated third ventricle.
Department of Radio-diagnosis, Father Muller Medical College, Mangalore, Karnataka, India.
Department of Radio-diagnosis, Father Muller Medical College, Mangalore, Karnataka, India.
MRI Brain: Calculating Normal FH/CC & CC/IT ratios
Brain Axial T2 image showing normal FH/CC (2.28), CC/IT (0.12) ratios in a normal person (normal FH/CC ratio = 2-3, CC/IT ratio= 0.03-0.140). Inner table width is measured at the level of intercaudate distance.
Father Muller Medical College, Mangalore, Karnataka, India.
Father Muller Medical College, Mangalore, Karnataka, India.
Abnormal FH/CC & CC/IT ratios in our patient
Brain Axial T2 image: our patient showing abnormal FH/CC (1.3) and CC/IT (0.23) ratios.
Father Muller Medical College, Mangalore, Karnataka, India.
Father Muller Medical College, Mangalore, Karnataka, India.
MRI of brain
Brain Coronal T2 image: shows prominent anterior horns of lateral ventricle with atrophy of the head of caudate nuclei bilaterally. There\'s also mild enlargement of the third ventricle.
Department of Radio-diagnosis, Father Muller Medical College, Mangalore, Karnataka, India.
Department of Radio-diagnosis, Father Muller Medical College, Mangalore, Karnataka, India.