ICNC Abstracts, ICNC 2018

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Kangaroo gait as a presentation of Hyper-manganesemia
Akash Harakchand Chheda, Vrajesh Udani, Hina Faldu

Last modified: 2018-09-09

Abstract


Hypermanganesemia with dystonia is an autosomal recessive metabolic disorder characterised by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia and hepatic dysfunction. Intellectual function is preserved. Various neurological presentation including the classical cock-walk and others like parkinsonism, spastic paraparesis etc have been described with hypermanganesemia. We describe new presentation of kangaroo gait in a six year old girl with hypermanganesemia.

She was born of consanguineous marriage and had normal early milestones till 4 years of age when she started having difficulty in walking, which involved truncal flexion while walking. This progressively worsened to make her walk with hands on ground due to severe truncal dystonia and gait appeared similar to kangaroo gait. Examination revealed mild stiffness in both lower limbs with hyperreflexia and extensor plantar response. Dexterity and use of upper limbs was normal. She was cognitively preserved and her height, weight and head circumference were appropriate for age.

Her liver enzymes were normal and there was no KF ring. Her MRI brain showed T1 hyperintensity in bilateral globus pallidi and putamen. Her serum manganese levels were highly elevated - 20.78 mcg/L (Normal range 0.3- 1.04 mcg/L). She also had polycythemia (Hematocrit- 55). Thus with the clinical presentation of severe truncal dystonia, MRI features of T1 basal ganglia hyperintensity and high serum manganese levels, this case is compatible with diagnosis of manganese transporter deficiency. The case highlights a distinctive presentation of this rare entity with the classical kangaroo gait.


Keywords


Hyper-manganesemia, truncal dystonia, kangaroo gait

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