A 9-year-old girl was admitted with a past medical history of epistaxis, recurrent upper respiratory tract infections, fever and weight loss for 5 months, which all were initiated after an upper respiratory tract infection.
On arrival, she reported recurrent episodes of epistaxis, ear infections accompanied with otorrhea, hearing loss and sinusitis for five months but denied cough, dyspnea or chest pain. For the past three months, she had recurrent admissions to different hospitals with no definite diagnosis. There was also no history of any urinary tract symptoms.
Her physical examination revealed normal vital signs except fever. There were no skin lesions. But oral lesions as gingival hypertrophy and bleeding gums were evident (Figure 1).
Saddle nose was present. She had also a phenotype compatible with Marfan syndrome, with her arm span > 1.05 times the height. Wrist sign and thumb sign were both positive. She was thin with long slender fingers and thumbs. She did not have any vision problems (confirmed by an ophthalmologist). In echocardiographic evaluation a mitral valve prolapse was detected. She had a positive family history of the same phenotype in her uncle. Chest X ray was normal. CT-scan of the chest illustrated a linear opacity, indicative of fibrotic change or a subsegmental atelectasis in anteroinferior part of the lung. Sinus CT-scan revealed pansinusitis.
The initial laboratory work-up identified a normal CBC, urinalysis, basic chemistry panel and liver function tests, except hemoglobin level of 6.5 g/dl and platelet counts of 786000/cc. Reticulocyte count,serum creatinine level,total complement level,serum Iron and TIBC were all normal but serum ferritin was significantly high. A 24 hr urine collection was done and the results were normal (total volume 1010cc, Prot = 82.5mg, Creat = 400mg).
Blood and urine cultures were negative. Mantoux test for tuberculosis was negative. Gastric lavage was performed for her in 3 occasions in early morning and fasting state to detect acid fast bacilli which were all negative for tuberculosis. Bronchoscopy was also performed and bronchoalveolar lavage was evaluated for TB bacilli and the result was negative.
Immunodeficiency work-up (including Ig level, specific antibody titer and flowcytometry) and bone marrow aspiration were normal.
The serological evaluation looking for an autoimmune process initially identified an elevated erythrocyte sedimentation rate (at 93) and CRP was positive. ANA and p-ANCA were negative, but c-ANCA was positive (c-ANCA titer of 1/10 in the patient with a control of up to 1/8 in two separate occasions and different laboratories with a time interval of two weeks and the third one performed after a month the result of which was 12 with a control of up to 12) but mildly elevated. A pulmonary function test was performed, and the following results were obtained which all were within the normal range: FVC = 1.62 (with a predicted of 1.81), FEV1 = 1.25 (with a predicted of 1.48), FEV1/FVC = 71.74 (with a predicted of 84.4), and PEF = 3.31 (with a predicted of 3.66). A sinus biopsy was done. Pathology report was as follows:
"Multiple granulomas, necrosis and eosinophils are present. PAS stain was negative for fungi. Wegener's Granulomatosis should be considered."