Esettanulmány: klinikum, képalkotás, diagnosztika, patológia

X-linked hyper-IgM syndrome associated with a rapid course of multifocal leukoencephalopathy.

Aschermann Z, Gomori E, Kovacs GG, Pal E, Simon G, Komoly S, Marodi L, Illes Z.

Arch Neurol, 2007, 64(2): 273-276

OBJECTIVE: To report an exceptional association between X-linked hyper-IgM syndrome and progressive multifocal leukoencephalopathy. DESIGN: Clinical, immunological, and histological analysis. Patient A 19-year-old male patient with X-linked hyper-IgM syndrome developed typical signs and symptoms of progressive multifocal leukoencephalopathy. RESULTS: The serum level of IgA was decreased; the serum level of IgM was slightly increased; and the serum level of IgG was normal as a result of monthly infusions of immunoglobulin. The expression of CD40 ligand on T cells was markedly reduced in the patient. Magnetic resonance imaging indicated confluent lesions involving the majority of the right hemisphere with a mass effect. The patient died after 6 weeks despite combined antiviral treatment. CONCLUSION: Progressive multifocal leukoencephalopathy may follow a rapid course in patients with X-linked hyper-IgM syndrome because of global defects of cellular and B cell responses.