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“Cock-walk” gait and “horseshoe moustache” sign on MRI in inherited hypermanganesemia

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Abstract

Exogenous manganese (Mn) intoxication leads only to neurotoxicity, whereas inherited hypermanganesemia additionally can cause cirrhosis and polycythemia. We report two affected siblings in a family from South India with severe dysarthria, without dysphagia, generalized dystonia, and characteristic “cock-walk” gait which are clinical clues. Genetic study showed homozygous mutation in the first exon of solute carrier family 30 member 10 (SLC30A10) gene (c.134T>C) confirming the diagnosis of inherited hypermanganesaemia with dystonia 1 (HMNDYT1). Characteristic brain MRI finding is involvement of pontine tegmentum on T1 axial images (due to affliction of central tegmental tract [CTT]) with sparing of ventral pons giving rise to “horseshoe moustache” sign. Symmetric hyperintensities in dentate nucleus, globus pallidus, and putamen while relatively sparing caudate nucleus on T1 without signal intensity abnormalities on T2 images are highly suggestive of hypermanganesaemia. Axial diffusion tensor imaging confirmed the “horseshoe moustache” sign to be constituted by the affected CTT. Hypermanganesaemia-induced CTT involvement in T1 needs to be differentiated from the other more common pediatric causes of CTT affliction which are evident on T2 or diffusion weighted images. Identification is crucial as it is a treatable disorder of metal deposition amenable to chelation.

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Authors and Affiliations

  1. Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, PIN-695011, India

    Ajith Cherian, Lakshmi Priya & K. P. Divya

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  1. Ajith Cherian
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  2. Lakshmi Priya
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  3. K. P. Divya
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Correspondence to K. P. Divya.

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Supplementary Information

Segment 1 shows video of proband with generalized dystonia. Characteristic “cock-walk” gait noted. Segment 2 shows sibling of proband with generalized dystonia and “cock-walk” gait on attempted walking (MP4 70207 kb)

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Cherian, A., Priya, L. & Divya, K.P. “Cock-walk” gait and “horseshoe moustache” sign on MRI in inherited hypermanganesemia. Neurol Sci 43, 1441–1445 (2022). https://doi.org/10.1007/s10072-021-05793-z

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  • DOI: https://doi.org/10.1007/s10072-021-05793-z

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