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Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus.

ABSTRACT: Background:Specific phenomenology and pattern of involvement in movement disorders point toward a probable clinical diagnosis. For example, forehead chorea usually suggests Huntington's disease; feeding dystonia suggests neuroacanthocytosis and risus sardonicus is commonly seen in Wilson's disease. Dystonic opisthotonus has been described as a characteristic feature of neurodegeneration with brain iron accumulation (NBIA) related to PANK2 and PLA2G6 mutations. Case report:We describe two additional patients in their 30s with severe extensor truncal dystonia causing opisthotonic posturing in whom evaluation revealed the diagnosis of NBIA confirmed by genetic testing. Discussion:Dystonic opisthotonus may be more common in NBIA than it is reported and its presence especially in a young patient should alert the neurologists to a possibility of probable NBIA.

SUBMITTER: Mehta S

PROVIDER: S-EPMC6707210 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus.

Mehta Sahil S Lal Vivek V

Tremor and other hyperkinetic movements (New York, N.Y.) 20190821

<h4>Background</h4>Specific phenomenology and pattern of involvement in movement disorders point toward a probable clinical diagnosis. For example, forehead chorea usually suggests Huntington's disease; feeding dystonia suggests neuroacanthocytosis and risus sardonicus is commonly seen in Wilson's disease. Dystonic opisthotonus has been described as a characteristic feature of neurodegeneration with brain iron accumulation (NBIA) related to PANK2 and PLA2G6 mutations.<h4>Case report</h4>We descr ...[more]

PMID: 31489256

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