Case report presents the role of 18F-FDG PET/CT in diagnosis and therapeutic approach in small child with Mendelian susceptibility to mycobacterial diseases (MSMD). One of defects from this group a dominant mutation c818-821delTTAA was detected in present patient.
She was vaccinated on 9th postnatal day. Within the following months she suffered from disseminated BCG infection.
In biopsy tissues Mycobacterium bovis was isolated and girl was treated with regiment of four antituberculotics, which induced clinical remission. New episode of illness flared up three years later, with right hip pain, cervical lymphadenopathy and 2 lumps on skull.
Surprisingly, cultures of material obtained from occipital lesion yielded colonies of Mycobacterium avium (subspecies avium). Two 18F-FDG PET/CT studies were performed during the second mycobacteriosis: the initial one before initiation of antituberculotics and the second one after 6 weeks of therapy.
The initial 18F-FDG PET/CT scan confirmed internal dissemination. Lesions with high 18F-FDG uptake were founds in two lesions in the skull, in the cervical lymph nodes on the left side, in the left lung, spleen and in right proximal femur.
Initial therapy with four antituberculotics was adjusted according to microbiological sensitivity. According to 18F-FDG PET/CT finding a surgical removal of the frontal skull and hip lesions was performed and the limb was immobilized by plaster fixation.
Follow-up 18F-FDG PET/CT scan 6 weeks after start of new therapy demonstrated apparent regression of all pathological lesions Among the advantages of 18F-FDG PET/CT is the combination of functional imaging and precise anatomic localization of biopsy sites for subsequent histological examination Conclusion: 18F-FDG PET/CT determined the extent of disseminated BCGosis, particularized the finding of bone lesions and evaluated the effect of the antituberculous treatment.