ICNC Abstracts, ICNC 2018

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A case report on siblings with motor regression and dystonia
Abhishek Jain, Aman Elwadhi, Suvasini Sharma, Bijoy Patra

Last modified: 2018-09-09


Introduction: Hypermanganesemia with dystonia is an autosomal recessive condition due to mutation in SLC39A14 which impairs metabolism of manganese in liver cells hence leading to accumulation of manganese in brain.  It is characterized by delay or loss of motor milestones, dystonia, spasticity with preserved cognition

Methods: Clinical evaluation, neuroimaging and relevant investigations

Case Report: 5 year old boy presented with dystonias and motor regression following a febrile illness. Other developmental domains were appropriate. Younger sibling had similar complaints. On examination, tone was increased in all four limbs, deep tendon reflexes were brisk and ankle clonus was present. MRI showed T1 hyperintensity in bilateral globus pallidus, brainstem and dentate nucleus.

Result: With the history of motor regression, dystonia and MRI findings both the siblings were investigated for serum manganese level. Serum manganese levels were raised in both the siblings and the children are presently on treatment with Calcium Ethylenediaminetetraacetic acid (EDTA) and are on follow up.

Discussion: Hypermanganesemia is a rare but one of the treatable inherited metal storage disorders. Hence a high index of suspicion should be kept for this disorder.


motor regression; dystonia; hypermanganesemia

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