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Case Report/Case Series |

Purkinje Cell Cytoplasmic Antibody Type 1 (Anti-Yo) Autoimmunity in a Child With Down Syndrome

Guillermo Philipps, MD1; Susan B. Alisanski, MD2; Michael Pranzatelli, MD3; Stacey L. Clardy, MD, PhD4; Vanda A. Lennon, MD, PhD4,5,6; Andrew McKeon, MD4,6
[+] Author Affiliations
1Department of Pediatric Neurology, Golisano Children’s Hospital of Southwest Florida, Fort Myers
2Department of Pediatric Hematology and Oncology, Golisano Children’s Hospital of Southwest Florida, Fort Myers
3Department of Neurology, Southern Illinois University School of Medicine, Springfield
4Department of Neurology, College of Medicine, Mayo Clinic, Rochester, Minnesota
5Department of Immunology, College of Medicine, Mayo Clinic, Rochester, Minnesota
6Department of Laboratory Medicine and Pathology, College of Medicine, Mayo Clinic, Rochester, Minnesota
JAMA Neurol. 2014;71(3):347-349. doi:10.1001/jamaneurol.2013.4551.
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Importance  Purkinje cell cytoplasmic antibody type 1 (PCA-1)–IgG (or anti-Yo) is characteristically detected in women with gynecological or breast adenocarcinoma. We describe 2 unique scenarios occurring in 1 patient: PCA-1 paraneoplastic autoimmunity in a child, and a paraneoplastic neurological disorder in the context of Down syndrome.

Observations  A child with Down syndrome and a history of adrenocortical carcinoma resected at age 1 year presented at age 7 years with cerebellar ataxia of subacute onset. Paraneoplastic serological and cerebrospinal fluid evaluations revealed PCA-1. Serological and biochemical studies also supported a diagnosis of subclinical autoimmune hypothyroidism. Extensive serum, urine, and radiological testing did not reveal a new or recurrent neoplasm. Neurological improvements after standard immunotherapy were lacking.

Conclusions and Relevance  Solid organ neoplasms are uncommon among patients with Down syndrome, but organ-specific autoimmune diseases are common. In our patient, Down syndrome–related impaired T regulatory lymphocyte function (previously reported) may have resulted in both enhanced immunity against an undetected solid neoplasm and paraneoplastic neurological (PCA-1) autoimmunity.

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Indirect Immunofluorescence and Western Blot Findings

Indirect immunofluorescence images show discrete cytoplasmic binding of Purkinje cell cytoplasmic antibody type 1 (PCA-1)–IgG in mouse tissues. A, Purkinje (P), molecular layer (M), and Golgi (G) neurons in cerebellar cortex (scale bar = 40 µm). B, Midbrain neurons (scale bar = 40 µm). C, Ganglionic and myenteric plexus neurons (scale bar = 40 µm). D, Western blot demonstrates PCA-1–IgG binding to a 52-kDa, reduced, denatured protein in an aqueous rat cerebellar cortical extract. A healthy control’s serum IgG is nonreactive. Control IgG in serum of a patient who is seropositive for antineuronal nuclear antibodies (ANNA-1)–IgG (anti-Hu) binds to a characteristic series of 35- to 40-kDa proteins.

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