Eur J Pediatr (1999) 158: 650±652 Ó Springer-Verlag 1999 INFECTIOUS DISEASES B. L. Loeys á R. N. Van Coster á L. R. Defreyne á J. G. Leroy Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis Received: 8 October 1998 / Accepted in revised form: 11 February 1999 Abstract We report on a patient who presented at 5 years of age with a hemiparesis due to a middle cerebral artery infarction. An embolism had originated from a mycotic aneurysm located in the internal carotid artery. For several months prior to admission he had been su€ering from therapeutically resistant candidiasis of the mouth and nails. Family history revealed chronic mycotic infections of the skin, hair, nails and mouth in the father and paternal grandmother suggestive of chronic mucocutaneous candidiasis with autosomal dominant mode of inheritance. Clipping of the aneurysm, after 3 months of anti-mycotic treatment, followed by sustained treatment with itraconazole and ¯uconazole, led to a favourable outcome. Conclusion Chronic mucocutaneous candidiasis can be associated with an intracranial aneurysm and complicated by cerebral infarction. Key words Fungal aneurysm á Familial mucocutaneous candidiasis Introduction Case report The term `mycotic aneurysm' was introduced by Osler [15] to describe aneurysms caused by any infectious agent. Most of these aneurysms were complications of bacterial endocarditis. This misnomer has prevailed in the literature for many years. The term `mycotic aneurysm' should be reserved for infected aneurysms caused by a fungal infection, and the designation `bacterial aneurysm' for aneurysms due to bacterial infection. The presented patient had a true fungal aneurysm as a complication of candidiasis, a condition from which several family members su€ered. He is the ®rst reported instance of possibly familial chronic mucocutaneous candidiasis and associated intracranial fungal aneurysm. Our patient, the second child of consanguineous parents, was born without complications following an uneventful pregnancy. Initial mental and motor development was normal. For several months prior to the hospital admission, he had been su€ering from therapy-resistant candidiasis of the mouth and nails. Family history revealed a chronic mycotic infection of skin, hair, nails and mouth in the father and the paternal grandmother. At 5 years of age, the boy was found in bed in a state of stupor. On admission to hospital a right hemiparesis was observed. His eyes were deviated to the left. Deep tendon re¯exes were hyperactive and Babinski sign was present on the right. General physical examination revealed no abnormalities. The CSF was hemorraghic (2.4 ´ 105 RBC and 2.9 ´ 103 WBC/lL, 59% polymorphonuclear cells). Hypocalcaemia (6.4 mg/dl) and hyperphosphataemia (6.9 mg/dl) suggested hypoparathyroidism, subsequently documented by the low serum parathormone concentration (6.6 pg/ml, normal >10). No coagulopathy was detected. Kidney, adrenal and liver function tests were normal, as was routine urinanalysis. A transthoracal echocardiogram was normal. The cerebral CT scan showed a large R. N. Van Coster (&) á B. L. Loeys á J. G. Leroy Department of Paediatrics, Ghent University School of Medicine, 185, De Pintelaan, B-9000 Ghent, Belgium Tel.: +32-9-240 35 85, Fax: +32-9-240 38 75 L. R. Defreyne Department of Interventional Radiology, Ghent University School of Medicine, Ghent, Belgium 651 Fig. 1 Left internal carotid artery angiogram (50 days after admission) showing anterior (left) and pro®le (right) view of the aneurysm in the C2-segment of the A. carotis interna hypodense area in the left parieto-occipital region compatible with infarction of the A. cerebri media area. A contrast enhanced CT scan as well as an angiographic study (Fig. 1) revealed an aneurysm in the C2-segment of the A. carotis interna with location cranial to the origin of the A. communicans posterior. This ®nding was con®rmed by MRI. The CSF culture was positive but blood cultures negative for Candida albicans. The patient was treated with oral ¯ucytosine and nystatine, combined with amfotericine B intravenously. After a few days the boy became more alert and recovered from the hemiparesis. Because fever persisted and CSF cultures remained positive for Candida albicans, intravenous ¯uconazole was added to the treatment. Eventually, after 3 weeks, cultures were sterile. Abnormal T-cell function against Candida albicans was demonstrated using a lymphocyte transformation test which showed a ¯at dose response curve. The general lymphocyte transformation test was normal. Precipitines were high, indicating a normal B-cell function. Finally, a Multitest showed no response to Candida albicans. De®nitive treatment of the aneurysm consisted of neurosurgical clipping of the aneurysm 3 months later. Sustained anti-mycotic treatment with itraconazole and ¯uconazole has led to a favourable outcome. Discussion This patient su€ered from chronic oral candidiasis with onset before the age of 5 years. In addition he had therapy-resistant candidiasis of the nails. Finding these two components prompted the diagnosis of chronic mucocutaneous candidiasis. The family history was positive in the father and paternal grandmother. The latter history is compatible with an autosomal dominant mode of inheritance. There have been other reports of dominantly inherited forms of chronic mucocutaneous candidiasis [10]. Because of this hypoparathyroidism at the time of admission, the diagnosis of candidiasis-endocrinopathy syndrome was entertained. Because over the following years hypoparathyroidism did not recur nor did other endocrinological dysfunctions appear, the candidiasisendocrinopathy syndrome was thought unlikely although not completely ruled out diagnosis. No family members, in particular those with mucocutaneous mycosis, had any sign of an endocrinological disorder. Thus, familial candidiasis endocrinopathy could not be upheld in these persons either. Moreover it is worth a reminder that this rare monogenic disorder is known to be autosomal recessively inherited. Nevertheless, patients should be checked yearly for endocrine failure and for auto-antibodies against endocrine tissues because endocrine failure can develop later in adulthood. Establishing baseline values for cellular immunity using a Multitest could be helpful in the future. Because the CSF cultures were positive for Candida, the cerebral infarction in the A. cerebri media region diagnosed on cranial CT and MRI scan was caused by mycotic embole originating in the A. carotis interna aneurysm. Ultrasonographic study had ruled out a possible cardiac origin. Fungal or ``true mycotic'' aneurysms are very rare. Mielke et al. [12], in reviewing the literature, found only 15 patients reported, 7 of whom where under the age of 20 years. Fungal aneurysms are usually located in major intracranial vessels, whereas bacterial aneurysms preferentially reside at peripheral branches of the middle cerebral artery [7]. The former tend to be relatively large and usually multiple, the latter rather small (1±2 mm in diameter) [1]. Few surviving patients with intracranial aneurysms due to Candida have been reported [11]. Karsner [8] grouped infectious aneurysms into three types based on pathogenesis. Most frequent are aneurysms of embolic origin due to bacterial endocarditis. Of patients with endocarditis 2%±10% develop aneurysms [2] with neurological symptoms as the clinical onset. Another type of aneurysm is of extracardiac origin and occurs in patients with meningitis, otitis media, or osteomyelitis of the skull, cavernous sinus thrombophlebitis, or in patients with skin abscesses or sinus infections. Finally, an aneurysm is considered `primary' or `cryptogenic' when no in¯ammatory focus can be detected. Among the several mechanisms they have proposed for the development of infectious aneurysms, Molinari et al. [13] suggested that the latter arise at the site of an infected embolus. In our patient, the chronic mucocutaneous candidiasis must have been accompa- 652 nied by systemic C. albicans infection, which led to the development of the mycotic aneurysm, the mycotic embolism and ultimately the cerebral infarction. Treatment of chronic mucocutaneous candidiasis is dicult. In recent reports itraconazole has been recommended as the most e€ective antifungal agent [5]. The diagnostic and therapeutic strategy for infective aneurysms is controversial [3, 4]. Cerebral CT scan alone is insucient for establishing a diagnosis. It is impossible to predict whether an aneurysm will become smaller and eventually disappear following appropriate therapy, or whether it will expand and rupture [3, 4, 6, 14]. Some aneurysms will rupture without angiographic enlargement. Brust et al. [4] recommended four-vessel angiography without delay whenever a mycotic aneurysm is suspected. A single accessible distal mycotic aneurysm in clinically stable patients should be treated surgically as soon as possible. Recommendations for patients with multiple or proximal infective aneurysms must be individualized. Salgado et al. [16] advised that angiography be repeated after completion of the antibiotic or antimycotic treatment in patients with initially negative angiographic results. Aspoas and De Villiers [2] concluded that elective surgery should be performed after 6 weeks of treatment if, on repeat angiography, the aneurysm is still present. Surgery becomes urgent if an increase in the size of the aneurysm is noticed. Clipping of the aneurysm is the favoured procedure. Recently, Khayata et al. [9] reported their experience with a promising alternative endovascular technique in patients with distal or deeply located aneurysms where surgical treatment was neither indicated nor possible. Cerebral infarction caused by an embolus originating from a mycotic aneurysm is assumed to be the most likely cause of the acute hemiparesis observed in the patient presented who su€ered from mucocutaneous candidiasis also present in close family members. Following clipping of the aneurysm preceded by 3 months of antimycotic therapy, the evolution was favourable under long-term anti-mycotic treatment. References 1. 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