Abstract
The hyper IgM syndromes are a rare group of primary immunodeficiency. The X-linked Hyper IgM syndrome (HIGM), due to a gene defect in CD40L, is the commonest variant; it is characterized by an increased susceptibility to a narrow spectrum of opportunistic infection. A few cases of HIGM patients with Cryptococcal meningoencephalitis (CM) have been described in the literature. Herein we report the case of a young male diagnosed in infancy with HIGM who developed CM complicated by a post-infectious inflammatory response syndrome (PIIRS), despite regular immunoglobulin replacement therapy and appropriate antimicrobial prophylaxis. The patient was admitted because of a headache and CM was diagnosed through detection of Cryptococcus neoformans in the cerebrospinal fluid. Despite the antifungal therapy resulting to negative CSF culture, the patient exhibited persistent headaches and developed diplopia. An analysis of inflammatory cytokines on CSF, as well as the brain MRI, suggested a diagnosis of PIIRS. Therefore, a prolonged corticosteroids therapy was started obtaining a complete resolution of symptoms without any relapse.
Highlights
Cryptococcal meningoencephalitis (CM) is an opportunistic infection that predominantly affects immunocompromised patients [1]
We report the case of a young male patient who developed cryptococcal meningoencephalitis complicated by a post-infectious inflammatory response syndrome (PIIRS) while receiving regular antibiotic prophylaxis and subcutaneous immunoglobulin (SCIG) supplementation
CD40 ligand (CD40L) deficiency or X-linked Hyper IgM syndrome (HIGM) syndrome is a severe primary immunodeficiency caused by mutations in the CD40L gene and characterized by susceptibility to lifethreatening infections [13, 14]
Summary
Cryptococcal meningoencephalitis (CM) is an opportunistic infection that predominantly affects immunocompromised patients [1]. It was confirmed by Sanger sequencing revealing a c.499G>A; p.G167R mutation in the CD40L gene (NM_000074), a mutation previously described by Asghar Aghamohammadi et al [10] He was maintained over the years with monthly I.V. immunoglobulin infusions, trimethoprim/sulfamethoxazole (TMP-SMZ), azithromycin and fluconazole prophylaxis without reporting serious infectious except for one episode of Pseudomonas aeruginosa otitis. The patient was discharged from the hospital after two weeks from the initiation of steroids therapy, with resolution of diplopia with no other neurological deficits. He continued trimethoprim/sulfamethoxazole prophylaxis (160/800 mg daily, three times a week) plus maintenance fluconazole (800 mg) and continuation of weekly administration of SC immunoglobulin infusions (Figure 2). After one year of follow up no neurological sequelae were observed or reported
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