Article Figures & Data
Figures
- 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).
Tables
Clinical and MR findings
Case Age at Onset Clinical Findings Location of MRI abnormalities Medulla Inferior Cerebellar Peduncles Dentate Nuclei Midbrain Subthalamic Nuclei Basal Ganglia Interpeduncular Nucleus Central Tegmental Tracts Substantia Nigra Pallido-cortical/Nigro-cortical Tracts 1 14 m Neurodevelopmental 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; + + − − + + − + − 2 12 m Failure 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) + + − − + − + − 3 12 m Failure 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.
In this issue
Jump to section
Related Articles
Cited By...
- A guide to diagnosis and treatment of Leigh syndrome
- OXPHOS mutations and neurodegeneration
- A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency
- Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease