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Case Reports
. 2013 Feb;28(2):127-9.
doi: 10.1002/mds.25386.

Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism

Vikas Bhambhani  1 , Wendy J Introne, Codrin Lungu, Andrew Cullinane, Camilo Toro
Affiliations
Case Reports

Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism

Vikas Bhambhani et al. Mov Disord. 2013 Feb.
No abstract available

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Figures

Figure 1
Figure 1
A: Pigment dilution in this patient of African-American descent over the skin surrounding his left ear. B: T2 weighted MRI image at the level of the head of the caudate nuclei. C: Several pathognomonic giant intracellular inclusions within a neutrophil and a single giant inclusion in a lymphocyte on light microscopy of a peripheral blood smear. D: Giant inclusions within the neutrophil on electron microscopy. Arrows identify giant inclusions. “N” identify portions of the segmented nucleus.
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References

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    1. Uyama E, Hirano T, Ito K, et al. Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia. Acta Neurol Scand. 1994;89(3):175–183. - PubMed
    1. Tardieu M, Lacroix C, Neven B, et al. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. Blood. 2005;106(1):40–42. - PubMed
    1. Hauser RA, Friedlander J, Baker MJ, et al. Adult Chediak-Higashi parkinsonian syndrome with dystonia. Mov Disord. 2000;15(4):705–708. - PubMed
    1. Silveira-Moriyama L, Moriyama TS, Gabbi TVB, et al. Chediak-Higashi syndrome with Parkinsonism. Mov Disord. 2004;19(4):472–475. - PubMed

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