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November 2020; 7 (6) Clinical/Scientific NotesOpen Access

Childhood choreoathetosis secondary to hyper-IgM syndrome (CD40 ligand deficiency)

View ORCID ProfileIan C. Coulter, Han Yan, Carolina Gorodetsky, Melika Akhbari, Sara Breitbart, View ORCID ProfileSuneil K. Kalia, Alfonso Fasano, George M. Ibrahim
First published October 16, 2020, DOI: https://doi.org/10.1212/NXI.0000000000000899
Ian C. Coulter
From the Division of Neurosurgery (I.C.C., H.Y., M.A., S.B., G.M.I.); Division of Neurology (C.G.), The Hospital for Sick Children; Division of Neurosurgery (S.K.K.), Toronto Western Hospital; Krembil Brain Institute (S.K.K.); and Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (A.F.), Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
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  • ORCID record for Ian C. Coulter
Han Yan
From the Division of Neurosurgery (I.C.C., H.Y., M.A., S.B., G.M.I.); Division of Neurology (C.G.), The Hospital for Sick Children; Division of Neurosurgery (S.K.K.), Toronto Western Hospital; Krembil Brain Institute (S.K.K.); and Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (A.F.), Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
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Carolina Gorodetsky
From the Division of Neurosurgery (I.C.C., H.Y., M.A., S.B., G.M.I.); Division of Neurology (C.G.), The Hospital for Sick Children; Division of Neurosurgery (S.K.K.), Toronto Western Hospital; Krembil Brain Institute (S.K.K.); and Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (A.F.), Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
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Melika Akhbari
From the Division of Neurosurgery (I.C.C., H.Y., M.A., S.B., G.M.I.); Division of Neurology (C.G.), The Hospital for Sick Children; Division of Neurosurgery (S.K.K.), Toronto Western Hospital; Krembil Brain Institute (S.K.K.); and Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (A.F.), Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
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Sara Breitbart
From the Division of Neurosurgery (I.C.C., H.Y., M.A., S.B., G.M.I.); Division of Neurology (C.G.), The Hospital for Sick Children; Division of Neurosurgery (S.K.K.), Toronto Western Hospital; Krembil Brain Institute (S.K.K.); and Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (A.F.), Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
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Suneil K. Kalia
From the Division of Neurosurgery (I.C.C., H.Y., M.A., S.B., G.M.I.); Division of Neurology (C.G.), The Hospital for Sick Children; Division of Neurosurgery (S.K.K.), Toronto Western Hospital; Krembil Brain Institute (S.K.K.); and Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (A.F.), Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
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  • ORCID record for Suneil K. Kalia
Alfonso Fasano
From the Division of Neurosurgery (I.C.C., H.Y., M.A., S.B., G.M.I.); Division of Neurology (C.G.), The Hospital for Sick Children; Division of Neurosurgery (S.K.K.), Toronto Western Hospital; Krembil Brain Institute (S.K.K.); and Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (A.F.), Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
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George M. Ibrahim
From the Division of Neurosurgery (I.C.C., H.Y., M.A., S.B., G.M.I.); Division of Neurology (C.G.), The Hospital for Sick Children; Division of Neurosurgery (S.K.K.), Toronto Western Hospital; Krembil Brain Institute (S.K.K.); and Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic (A.F.), Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
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Citation
Childhood choreoathetosis secondary to hyper-IgM syndrome (CD40 ligand deficiency)
Ian C. Coulter, Han Yan, Carolina Gorodetsky, Melika Akhbari, Sara Breitbart, Suneil K. Kalia, Alfonso Fasano, George M. Ibrahim
Neurol Neuroimmunol Neuroinflamm Nov 2020, 7 (6) e899; DOI: 10.1212/NXI.0000000000000899

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    Figure Illustrative radiological and immunohistological imaging

    (A and B) show axial and coronal T2 preoperative images demonstrating supratentorial volume loss and bilateral T2 globus pallidus hypointensity. (C) Coronal T2 sequence illustrating deep brain stimulation electrodes. (D) Immunohistological image demonstrating CD3 positivity (brown) indicative of lymphocytosis.

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    Demonstrating our patient's choreiform movements preoperatively and after the initiation of stimulation 5 days postoperatively.Download Supplementary Video 1 via http://dx.doi.org/10.1212/000899_Video_1

  • links.lww.com/NXI/A331

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