Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia.
We report an association between histologically confirmed progressive multifocal leukoencephalopathy (PML) and an extremely rare humoral immunodeficiency disease, Franklin disease. In our patient, clinical presentation has been typical and prompted us, together with radiological findings, to perform a brain biopsy to confirm the diagnosis even if there was no evidence of any other risk factor except hypogammaglobulinemia. We suggest that PML should be suspected in patients in whom immunosuppression is not obvious (i.e. not only in the setting of HIV infection or disseminated end-stage lymphomas) and involves defects in humoral immunity.
Institute of Neurology, Catholic University School of Medicine, Rome, Italy. tasca.giorgio@virgilio.it
Giorgio
G
Tasca
Raffaele
R
Iorio
Umberto
U
Basile
Libero
L
Lauriola
Raffaele
R
Tartaglione
Massimiliano
M
Mirabella
Enzo
E
Ricci
Mario
M
Sabatelli
D000230:Adenocarcinoma / Q000150:complications; D000361:Agammaglobulinemia / Q000150:complications* / Q000276:immunology; D000368:Aged; D000998:Antiviral Agents / Q000627:therapeutic use; D001921:Brain / Q000473:pathology / Q000821:virology; D001932:Brain Neoplasms / Q000175:diagnosis / Q000556:secondary; D000077404:Cidofovir; D003596:Cytosine / Q000031:analogs & derivatives / Q000627:therapeutic use; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006362:Heavy Chain Disease / Q000150:complications* / Q000276:immunology; D006801:Humans; D016867:Immunocompromised Host; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007577:JC Virus / Q000254:growth & development / Q000302:isolation & purification*; D007968:Leukoencephalopathy, Progressive Multifocal / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000276:immunology / Q000473:pathology; D008297:Male; D063065:Organophosphonates / Q000627:therapeutic use; D010257:Paraneoplastic Syndromes / Q000175:diagnosis; D012004:Rectal Neoplasms / Q000150:complications; D012307:Risk Factors; D014775:Virus Activation
D000998:Antiviral Agents; D016756:Immunoglobulins, Intravenous; D063065:Organophosphonates; D003596:Cytosine; D000077404:Cidofovir