Pearls & Oy-sters: Spinal Cord Candidiasis Linked to CARD9 Deficiency Masquerading as a Longitudinally Extensive Transverse Myelitis.

Neurology

From the Departments of Neurology (L.J., M.M.A., E.M., V.D.) and Pathology (I.P.), Pitie Salpetriere University Hospital, AP-HP; Universite de Paris (F.L.), Infectious Diseases Unit, Necker-Enfants Malades University Hospital, AP-HP, Imagine Institute; Institut Pasteur (F.L.), Centre National de Reference Mycoses invasives et Antifongiques, unité de mycologie moleculaire, CNRS; and Sorbonne Université (V.P.), INSERM, Institut Pierre Louis d'Epidémiologie et de Santé Publique (IPLESP UMRS 1136), AP-HP, Hôpital Pitié Salpêtrière, Service des Maladies infectieuses et tropicales, Paris, France.

Published: September 2022

spp. myelopathies are very rare. We report a case of subacute longitudinally extensive transverse myelitis in an apparently immunocompetent 55-year-old man. After a negative infectious workup, corticosteroids and plasma exchange were initiated. Although there was a transient initial improvement, symptoms then worsened, and the lumbar puncture was repeated. was isolated in the CSF, and a diagnosis of spinal cord candidiasis was made. Gene panel sequencing for inborn immune deficiencies identified a homozygous disease-causing variant. Despite antifungal treatment, necrotic myelitis, meningoencephalitis, and cerebral vasculitis developed. Fungal spinal cord infections can mimic inflammatory myelitis, and beta-D-glucan testing of both serum and CSF may help narrow down the diagnosis. In cases of severe or unexpected invasive infection, even adults and apparently immunocompetent patients should be screened for inborn immune deficiencies and CARD9 deficiency in particular.

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http://dx.doi.org/10.1212/WNL.0000000000200992DOI Listing

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