Figure 4a: PET/CT horizontal view with evidence of FDG avidity in all
lobes, with nodules as the dominant morph. Coronal view, showing the
extensive interstitial process as well as the diffuse lymphadenopathy.
Figure 4B: Bottom picture - skin biopsy demonstrates mycotic branched
septate fibres and oval spores of variable size in the epidermis and the
inflammatory infiltrate in the dermis (PAS and Grocott’s method)
4th challenge point: The PET-CT scan showed an extensive
interstitial lung process. Usually, corticosteroids would be
administered to prevent permanent changes, however, with the suspicion
of fungal infection, the immunosuppressive treatment might be harmful.
4th learner reflection : Which disease could
explain these findings? Which test/consult would you order to confirm
your suspicion? Additional information in the 4thpodcast.
4th case progression: An immunological
investigation was requested, including immunoglobulin IgG, IgG
subclasses, IgA, IgM and lymphocyte differential which were, however,
not suggestive of any major cellular or humoral immunodeficiency.
Additionally, the granulocytes’ ability to produce reactive oxygen
species was tested with the oxidative burst test, or dihydrorhodamine
test was found to be markedly disturbed. This was a specific hallmark of
primary immunodeficiency called chronic granulomatous disease (CGD). CGD
patients are susceptible to fungal, bacterial and viral infections. At
the same time, the results of beta-D-glucan test from BAL showed
borderline levels (96 ug/mL, confirmatory result greater than 100 ug/mL)
while an extensive mold-derived antigen specific IgG panel returned
strongly positive for numerous types of molds. Therefore, treatment with
antifungal voriconazole was initiated (20 mg/kg/day), as well as
sulfamethoxazole - trimethoprim prophylaxis, which is a standard of care
for CGD patients. Genetic testing was requested to confirm the CGD.