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Table of Contents
CASE REPORTS
Year : 2019  |  Volume : 2  |  Issue : 3  |  Page : 134-135

Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis


1 Department of Clinical Neuroscience, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India
2 Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India
3 Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India

Date of Submission05-Aug-2019
Date of Decision06-Aug-2019
Date of Acceptance10-Oct-2019
Date of Web Publication04-Dec-2019

Correspondence Address:
Dr. Pramod K Pal
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560029, Karnataka.
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AOMD.AOMD_17_19

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  Abstract 

Type III GM1 gangliosidosis is the adult or chronic variant of a lysosomal storage disorder, which occurs secondary to deficiency of β-galactosidase. The wishbone pattern of iron deposition which involves the medial and latter parts of the globus pallidus is pathognomonic of this disease. The diagnosis of type III GM1 gangliosidosis should be considered in patient with young onset, progressive generalized dystonia with prominent facial dystonia, and a wishbone pattern of iron deposition.

Keywords: GM1 gangliosidosis, wishbone, iron deposition


How to cite this article:
Prasad S, Sahoo LK, Saini J, Pal PK. Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis. Ann Mov Disord 2019;2:134-5

How to cite this URL:
Prasad S, Sahoo LK, Saini J, Pal PK. Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis. Ann Mov Disord [serial online] 2019 [cited 2020 Jan 18];2:134-5. Available from: http://www.aomd.in/text.asp?2019/2/3/134/272282




  Introduction Top


GM1 gangliosidosis is a lysosomal storage disorder, which occurs secondary to deficiency of β-galactosidase.[1] There are three distinct clinical phenotypes of GM1 gangliosidosis, of which, type III, that is, the adult or chronic variant presents as a progressive extrapyramidal disorder, particularly dystonia.[2]

A 23-year-old woman, born of a second-degree consanguineous parentage, with no abnormal developmental history or significant family history, presented with a 17-year history of progressive orolingual, cervical, and limb dystonia. Symptoms initially started with dystonic posturing of the left leg and gradually progressed to involve other regions. On examination, she had a staring look, dysarthric speech, facial dystonia (involving the zygomaticus, perioral, and frontalis muscles), and frequent facial twitching (involving the lips and periorbital muscles). There was no  Kayser-Fleischer ring More Details, and fundus was normal. Extraocular muscle movements were abnormal—vertical supranuclear gaze palsy, jerky pursuits, and slow saccades. She had significant rigidity and generalized dystonia with lingual dystonia, retrocollis, left laterocollis, truncal dystonia, and dystonia of both upper and lower limbs. Sensory examination was normal, and no organomegaly was reported.

Magnetic resonance imaging of brain showed mineralization of bilateral globus pallidus, bilateral posterior putaminal volume loss, and hyperintensity in T2-weighted Fluid attenuation inversion recovery images [Figure 1]A. Susceptibility weighted images revealed a characteristic wishbone pattern of iron deposition,[3] involving the medial and lateral parts of the globus pallidus [Figure 1]B. The wishbone pattern of iron deposition is considered to be a pathognomonic sign in type III GM1 gangliosidosis,[4] wherein iron deposition occurs due to defective intralysosomal recycling.[1] Mineralization of the globus pallidus may suggest neurodegeneration with brain iron accumulation; however, the characteristic pattern of deposition, in addition to putaminal changes should raise a suspicion of type III GM1 gangliosidosis. In the present case, diagnosis was confirmed by clinical exome sequencing, which revealed compound heterozygous mutations in the GLB1 gene.
Figure 1: (A) T2 FLAIR image showing bilateral posterior putaminal volume loss, hyperintensity (black arrow), and mineralization of bilateral globus pallidus. (B) Susceptibility weighted imaging showing characteristic wishbone pattern of iron deposition in the medial and lateral parts of the globus pallidus (white arrow)

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Although rare, a diagnosis of type III GM1 gangliosidosis should be considered in a patient with young onset, progressive generalized dystonia with prominent facial dystonia, and a wishbone pattern of iron deposition.

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Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 2008;94:391-6.  Back to cited text no. 1
    
2.
Muthane U, Chickabasaviah Y, Kaneski C, Shankar SK, Narayanappa G, Christopher R, et al. Clinical features of adult GM1 gangliosidosis: Report of three Indian patients and review of 40 cases. Mov Disord 2004;19:1334-41.  Back to cited text no. 2
    
3.
Hajirnis O, Udwadia-Hegde A. Chronic GM1 gangliosidosis with characteristic “wish bone sign” on brain MRI. Another type of neurodegeneration with brain iron accumulation? Mov Disord Clin Pract 2015;2:323-5.  Back to cited text no. 3
    
4.
Malik P, Muthusamy K, C M, Danda S, Sudhakar SV. Teaching NeuroImages: wishbone pattern of iron accumulation: A characteristic imaging sign in GM1 gangliosidosis. Neurology 2019;92:e2176-7.  Back to cited text no. 4
    


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