Aneurysm Associated with Chronic Mucocutaneous Candidiasis during Long-Term Therapy with Ketoconazole

Abstract

A little girl who was suffering from chronic mucocutaneous candidiasis also had a cellular immune deficiency and undetectable IgA levels. She was treated continuously for 6 years with ketoconazole at the same dosage of 200 mg/day. She was rapidly clear from infection and dit not relapse although her immune abnormalities persisted. During this long-term therapy, voluminous fusiform intracranial aneurysm appeared, causing a paresis of the four limbs. Are they mycotic aneurysms?

Diagnostic Characteristics and Management of Intracranial Aneurysms in Children

“…Although childhood HIV lesions were initially considered as relatively specific [49], similar features have been observed in chronic mucocutaneous candidiasis (CMCC) [50]. CMCC is a rare familial primary immunodeficiency of unknown etiology characterized by recurrent infections of the mucous membranes, nails, and skin with Candida albicans [46,50,51].…”

“…CMCC is a rare familial primary immunodeficiency of unknown etiology characterized by recurrent infections of the mucous membranes, nails, and skin with Candida albicans [46,50,51]. The association of CMCC with cerebral vasculitis or aneurysm is rare, but the similarities between cerebral aneurysms in CMCC and AIDS are remarkable.…”

An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

“…The phenotype is not strictly limited to CMC, as these patients often display other infections, such as staphylococcal cutaneous disease, and even autoimmune manifestations, such as thyroiditis (Atkinson et al, 2001; Liu et al, 2011b). Moreover, this condition is not benign, as the patients may develop mucocutaneous carcinomas and cerebral aneurysms (Leroy et al, 1989; Williamson, 1969). Complete AR IL-17RA deficiency and partial AD IL-17F deficiency were the first two genetic etiologies of CMCD to be discovered (Puel et al, 2011).…”

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

“…CMC disease (CMCD), the molecular and cellular basis of which is unknown, consists of CMC in the absence of other overt infectious or autoimmune signs (1). CMCD was initially thought to be benign, until squamous cell carcinoma (9) and cerebral aneurysms (10) were reported. First described in 1967 in sporadic cases (11), familial CMC segregating as autosomal dominant (AD) (12) and autosomal recessive (AR) traits (13) was soon reported.…”