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Published on: November 4, 2017
Inherited manganism: the "cock-walk" gait and typical neuroimaging features
Marcela Amaral Avelino1, Eduardo Ferracioli Fusão1, José Luiz Pedroso1
1Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
Abstract:
Manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. This letter highlights the neurological manifestations and neuroimaging features of inherited manganism (IMn), an unusual and treatable inborn error of Mn homeostasis. Early-onset dystonia with "cock-walk" gait and hyperintense signal in basal ganglia, associated to polycythemia, chronic liver disease and hypermanganesemia, promptly suggest IMn, and a genetic evaluation should be performed.
Insights
Inherited manganism (IMn) is a treatable disorder causing parkinsonian symptoms due to manganese buildup. Early diagnosis with genetic testing is crucial for managing this rare condition.
Area of Science:
- Neurology
- Genetics
- Toxicology
Background:
- Manganese (Mn) toxicity can induce parkinsonian symptoms and basal ganglia abnormalities on MRI.
- Inherited manganism (IMn) is a rare, treatable inborn error affecting manganese homeostasis.
Observation:
- Neurological signs include early-onset dystonia and a distinctive "cock-walk" gait.
- Associated findings may include polycythemia, chronic liver disease, and elevated blood manganese levels (hypermanganesemia).
Findings:
- Neuroimaging reveals characteristic hyperintense signals in the basal ganglia, indicating Mn accumulation.
- These clinical and imaging features strongly suggest IMn.
Implications:
- Prompt genetic evaluation is essential for diagnosing IMn.
- Early identification and management can potentially reverse or alleviate neurological symptoms associated with this treatable condition.
