ICNC Abstracts, ICNC 2018

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An Imaging Clue for Treatable Early Childhood-Onset Dystonia - Manganism
Hansashree Padmanabha, Savita Krishnamurthy, Sharath Kumar G G, Indumathi Chikkanayakana

Last modified: 2018-09-09

Abstract


Background : Neuroimaging doesn’t play a major role while evaluation of children with primary dystonia.Hereby we present a 3-year old boy with early-childhood onset dystonia with interesting neuroimaging, which clinched the diagnosis.

Method & Result : A 3-year-old boy, first born of a third-degree consanguineous parentage had presented with recurrent falls and toe walking from 2-years of age. Birth and perinatal events were uneventful. On examination, he had microcephaly (45 cm at -3 Z score, WHO), mild calf muscle hypertrophy, bilateral tendo-achilles contractures and when made to walk with support prominent foot dystonia was noted. An initial neuroimaging done revealed symmetrical T1-weighted hyper-intense signal changes in basal ganglia, midbrain, periaqueductal grey matter, superior colliculus, middle cerebellar peduncle and dentate nuclei.Blood investigations identified markedly elevated serum manganese levels 186 microgram/l (5- 15). NGS revealed a previously unreported homozygous single base pair insertion c.18_19insT in exon 1 of SLC30A10 gene that results in stop codon and premature truncation of protein at codon 7(p.Lys7Ter).

Discussion: Inherited hypermanganesemia are caused due to mutations in SLC30A10, SLC39A14 and SLC39A81.Homozygous mutations in SLC30A10 manifests in childhood(2-15 years) with four-limb dystonia(cock-walk gait), dysarthria, polycythemia, hepatic cirrhosis and characteristic neuroimaging as in index child.Chelation with EDTA and iron supplementation is beneficial.

Conclusion: Genetic hypermanganesmia with early childhood-onset dystonia can easily be identified based on characteristic neuroimaging and initiation of chelation is beneficial.


Keywords


Manganism; childhood-onset dystonia; MRI Brain; SLC30A10 gene; EDTA chelation

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