Purkinje cell cytoplasmic antibody type 1 (Anti-Yo) autoimmunity in a child with down syndrome

Guillermo Philipps, Susan B. Alisanski, Michael Pranzatelli, Stacey L. Clardy, Vanda A. Lennon, Andrew McKeon

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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 anundetected solid neoplasm and paraneoplastic neurological (PCA-1) autoimmunity.

Original languageEnglish (US)
Pages (from-to)347-349
Number of pages3
JournalJAMA neurology
Issue number3
StatePublished - Mar 2014

ASJC Scopus subject areas

  • Clinical Neurology


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