Vertebral Aspergillosis in a Patient with Autosomal-Dominant Hyper-IgE Syndrome

Abstract

bWe present a report of an autosomal-dominant hyper-IgE syndrome patient with vertebral aspergillosis. Early diagnosis and antifungal therapy with surgery are crucial for improving the outcome of this aggressive condition. CASE REPORTA n 8-year-old boy was admitted for a mass in the neck with numbness in the right upper extremity. He had no fever, night sweating, weight loss, or fatigue. At presentation, the patient appeared malnourished but had no facial abnormalities. Marked growth retardation was noticed (height, 113 cm; weight, 19 kg (both less than the third percentile [1])). His medical history included a delay in primary tooth shedding, recurrent oral ulcers, and pulmonary infections of unidentified etiology. Vital sign measurements were within the normal ranges. On physical examination, a 4-cm by 3-cm soft mass was palpable in the right nuchal region, without tenderness or ulceration. His neurological functions were normal except for right extremity numbness. Blood tests showed elevated white blood cell (WBC) counts (10.4 ϫ 10 9 /liter; normal range, 4 ϫ 10 9 to 10 ϫ 10 9 /liter) with an increase in the percentage of eosinophils (14.2%; normal range, 0.5% to 5%), a high erythrocyte sedimentation rate (ESR; 90 mm/h; normal range, 0 to 15 mm/h), and an elevated C-reactive protein (CRP) concentration (52.7 mg/liter; normal range, 0 to 5.2 mg/ liter). The results of the tuberculin skin test and blood test for anti-tuberculin antibody were negative. Magnetic resonance imaging (MRI) confirmed a 4-cm by 3.5-cm by 3-cm mass located in the right nuchal region. Additionally, a space-occupying lesion in the left pulmonary hilum was revealed by computed tomography (CT) (Fig. 1A, B, and C).A working diagnosis of malignant neurogenic tumor was considered. Needle aspiration of the neck lesion was not performed because of the risk of metastasis. Surgical decompression with debridement of the neck mass was performed, which revealed pus in the mass and spinal canal. The pus culture (Sabouraud dextrose agar; Bio-caring) results were negative. Histological examination revealed purulent inflammation without malignant tumor cells. Cefathiamidine was started for presumed bacterial infection. The patient experienced symptom relief after the surgery. Two weeks later, however, the patient complained of new-onset back pain, and reappearance of the mass in the same nuchal region was observed. Needle aspiration performed, and 1 week later, Aspergillus fumigatus was detected on pus culture. Enzyme-linked immunosorbent assay for Aspergillus galactomannan (GM test; Platelia Aspergillus enzyme immunoassay [EIA] [Bio-Rad]; cutoff value, 0.5 ng/ml) and screening for 1,3-␤-D-glucans (G-test; Fungitell [Associates of Cape Cod]; cutoff value, 80 pg/ml) in the plasma were performed. The GM test value was 1.45 ng/ml, and the G test value was 227 pg/ml. Vertebral aspergillosis was suspected, and the patient was given chemotherapy (voriconazole, at a loading dose of 6 mg/kg of body weight, intravenously every 12 h for 1 day, followed by 4 mg/kg,...

Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases

“…AR CARD9 deficiency has been reported in rare cases associated with spontaneous CNS aspergillosis, intra-abdominal aspergillosis, and chronic cutaneous aspergillosis [ 97 , 98 ]. Meanwhile, AD-HIES due to DN-STAT3 mutations (see above) has been reported in association with vertebral [ 120 ] or sino-orbital aspergillosis [ 121 ].…”

Skeletal and Joint Manifestations of Primary Immunodeficiency Diseases

“…Aseptic arthritis, platyspondyly, phalangeal anomaly, and clinodactyly have been observed in Schimke syndrome [35,36]. Autosomal dominant Hyper IgE Syndrome, which is caused by mutation of STAT-3, is associated with increased frequency of fractures, 66% hyperextensibility (66%), scoliosis (63%), osteopenia (40%), osteoporosis (20%), aseptic arthritis (8%), and septic arthritis (17%) [37][38][39][40][41][42][43]. Osteogenesis imperfecta as well as craniosynostosis has also been reported [44][45][46].…”