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Updated: Sep 10, 2026

Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia
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Published on: January 27, 2018

Dystonia as a presenting sign of subacute necrotising encephalomyelopathy in infancy

J Campistol, V Cusi, A Vernet

    European Journal of Pediatrics
    |April 1, 1986
    PubMed

    Insights

    This case report details subacute necrotising encephalomyelopathy (SNE) in a patient with early-onset dystonic symptoms. Postmortem examination confirmed the diagnosis, highlighting SNE

    Area of Science:

    • Neurology
    • Pathology

    Background:

    • Subacute necrotising encephalomyelopathy (SNE), also known as Leigh syndrome, is a rare mitochondrial disease.
    • It typically affects infants and young children, presenting with progressive neurological deterioration.

    Observation:

    • This report describes an unusual case of SNE with an early onset.
    • Notable clinical features included dystonic manifestations.
    • Computerised tomography (CT) revealed low attenuation areas in the basal ganglia.

    Findings:

    • Laboratory investigations were within normal limits, complicating early diagnosis.
    • The diagnosis of SNE was definitively confirmed through postmortem examination.
    • The case highlights atypical presentations of SNE, including early onset and specific CT findings.

    Implications:

    • This case expands the understanding of the clinical and radiological spectrum of subacute necrotising encephalomyelopathy.
    • Early recognition of atypical features is crucial for timely diagnosis and management, despite normal lab results.
    • Further research into mitochondrial diseases and their varied presentations is warranted.

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