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Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings

Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno and Paolo Tortori-Donati
American Journal of Neuroradiology June 2003, 24 (6) 1188-1191;
Andrea Rossi
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Roberta Biancheri
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Claudio Bruno
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Maja Di Rocco
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Angela Calvi
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Alice Pessagno
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Paolo Tortori-Donati
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    Fig 1.

    Case 3. MR imaging at age 3 years.

    A, Coronal T2-weighted image (4500/120 [TR/TE]) shows symmetric T2 prolongation involving the subthalamic nuclei (thin arrow). The substantia nigra (thick arrow), posteroinferior portion of the putamina (arrowhead), and medulla are also involved.

    B–E, Axial T2-weighted images (4500/120).

    B, T2 prolongation involves the medulla (thin arrow), inferior cerebellar peduncles (thick arrow), and dentate nuclei (arrowhead).

    C, Involvement of the interpeduncular nucleus (thin arrow) and central tegmental tract (arrowhead).

    D, Diffuse involvement of the substantia nigra (thick arrow) is associated to discrete hyperintense lesions in the anatomic location of the central tegmental tract (arrowhead) and pallido-cortical/nigro-cortical tracts (thin arrow).

    E, Simultaneous, symmetric involvement of the substantia nigra (thick arrow) and central tegmental tracts (arrowhead).

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    CaseAge at OnsetClinical FindingsLocation of MRI abnormalities
    MedullaInferior Cerebellar PedunclesDentate NucleiMidbrainSubthalamic NucleiBasal Ganglia
    Interpeduncular NucleusCentral Tegmental TractsSubstantia NigraPallido-cortical/Nigro-cortical Tracts
    114 mNeurodevelopmental regression, hypotonia, absent deep tendon reflexes; weight, height, and head circumference < second centile; severe respiratory difficulties; blood lactate at rest: 58 mg/dL (normal 8–22 mg/dL); lactate/pyruvate ratio: 61.6 (normal 6–25); death at age 22 months from cardiorespiratory arrest;++−−++−+−
    212 mFailure to thrive, neurodevelopmental regression, frequent vomiting, facial dysmorphism, hirsutism, hypotonia; blood lactate at rest: 32 mg/dL (normal 8–22 mg/dL); alive at age 3 years+(extending to cervical cord)++−−+−+−
    312 mFailure to thrive, neurodevelopmental delay; episodes of palpebral ptosis and impaired consciousness; facial dysmorphism, hirsutism, nystagmus, hypotonia, absent deep tendon reflexes, breathing abnormalities; blood lactate at rest: 42 mg/dL (normal 8–22 mg/dL); alive at age 4 years+++++++++
    • Note.—m, months; +, present; −, absent.

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American Journal of Neuroradiology: 24 (6)
American Journal of Neuroradiology
Vol. 24, Issue 6
1 Jun 2003
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Cite this article
Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno, Paolo Tortori-Donati
Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings
American Journal of Neuroradiology Jun 2003, 24 (6) 1188-1191;

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Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings
Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno, Paolo Tortori-Donati
American Journal of Neuroradiology Jun 2003, 24 (6) 1188-1191;
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