Neuroacanthocytosis Workup

Updated: Oct 16, 2018
  • Author: Stephen A Berman, MD, PhD, MBA; Chief Editor: Selim R Benbadis, MD  more...
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Workup

Laboratory Studies

See the list below:

  • Fresh blood smear for acanthocytes: Any level greater than 3% is abnormal; in neuroacanthocytosis, acanthocytes usually measure 10-30%. Liver disease, splenectomy, and hemolytic anemia must be excluded.

  • Elevated creatine kinase level

  • Serum lipoproteins: In addition to the abetalipoproteinemia and hypobetalipoproteinemia, a case report of a patient with aprebetalipoproteinemia has also been documented. [40] All the forms probably have not yet been discovered.

  • Elevated liver enzyme levels

  • Specific genetic tests

    • Bassen-Kornsweig disease (abetalipoproteinemia) -MTP gene

    • FHBL1 -APOB gene

    • ChAc - Chorein (VPS13A)

    • MLS - Kell blood group protein (XK)

    • HDL2 -JPH3 gene

    • PKAN -PANK2 gene

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Imaging Studies

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  • Brain MRI - Caudate atrophy and increased signal in caudate and lentiform nuclei. In PKAN, a pallidal hypointensity with a central area of hyperintensity, named "eye of the tiger" sign, is observed. The hypointensity is due to iron deposition.

  • Brain CT scanning - Caudate atrophy and ventricular dilatation (especially in the frontal horns of the lateral ventricles)

  • Brain positron emission tomography - Hypometabolism in the neostriatum and the frontal cerebral cortical areas [41, 42]

  • Brain single-photon emission computed tomography (SPECT) - Hypoperfusion in the neostriatum and frontal areas

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Other Tests

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  • Electromyography (EMG) and nerve conduction study (NCS) findings are consistent with chronic denervation and a primarily axonal peripheral neuropathy.

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