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. Author manuscript; available in PMC: 2014 Mar 1.
Published in final edited form as: Pediatr Neurol. 2013 Mar;48(3):167–178. doi: 10.1016/j.pediatrneurol.2012.09.014

Table 2.

Diagnostic criteria for Alpers-Huttenlocher syndrome.

  1. Clinical triad of refractory seizures, psychomotor regression, and hepatopathy.

  2. In the absence of either hepatopathy (Table 1) or additional findings (see below), the diagnosis can only be confirmed either by polymerase gamma gene sequencing, liver biopsy or post mortem examination.

  3. Additional clinical findings: [At least 2 of the 11 findings must be present]
    1. Brain proton magnetic resonance spectroscopy showing reduced N-acetyl aspartate, normal creatine, and elevated lactate.
    2. Elevated cerebral spinal fluid protein (> 100 mg/dL)
    3. Cerebral volume loss (central > cortical, with ventriculomegaly) on repeat magnetic resonance imaging or computed tomography studies.
    4. At least one electroencephalogram showing a multifocal paroxysmal activity with high-amplitude delta slowing (200 – 1000 microvolts) and spikes/polyspikes (10 – 100 microvolts, 12-25 Hertz).
    5. Cortical blindness or optic atrophy.
    6. Abnormal visual evoked potentials and normal electroretinogram.
    7. Quantitative mitochondrial DNA depletion in skeletal muscle or liver (35% mean).
    8. Deficiency in polymerase gamma enzymatic activity (≤ 10%) in skeletal muscle or liver.
    9. Elevated blood or cerebral spinal fluid lactate (3 mM) on at least one occasion in the absence of acute liver failure.
    10. Isolated complex IV or a combination I, III, and IV electron transport complex defects (≤ 20% of normal) upon liver respiratory chain testing.
    11. A sibling confirmed to have Alpers-Huttenlocher syndrome.

Adopted from [9]