Penicilliosis marneffei in HIV negative children: three case reports

Abstract

This study aimed to report the clinical characteristics of penicilliosis marneffei (PSM) in three children negative to HIV. Three children were diagnosed with PSM in the Department of Emergency Medicine, Hunan Children's Hospital between February 2016 to July 2020. The clinical characteristics, laboratory findings, and concomitant diseases were recorded, and the related literatures were reviewed. The clinical characteristics and treatment of PSM were reported according to our experience and literature review. The initial symptom was right lower limb mass in 1 child (first) who developed fever and cough about 1 month later and then was misdiagnosed with tuberculosis. The other child (second) had a fever, reductions in red blood cells, white blood cells and platelets, hepatosplenomegaly and lymphadenectasis. The third child had fever, jaundice, multiple organ dysfunction syndrome (MODS), hepatosplenomegaly and lymphadenectasis. The first child (Case 1) had STAT1 gene mutation on genetic examination, and the second child (Case 2) had history of onychomycosis and oral ulcer, the third child (Case 3) had STAT3 gene mutation on genetic examination, diagnosed with Hyperimmunoglobulin E syndromes (HIES). PSM was confirmed in all cases by the culture bone marrow. All three cases were diagnosed through medulloculture. Case 1 and Case 2 also had lymph node biopsy. Case 3 had sputum culture and bronchoalveolar lavage fluid (BALF). The first child was intravenously administered with voriconazole and amphotericin B liposomes, and orally administered with itraconazole for maintenance therapy, which was discontinued 1 year later. The second child was administered with voriconazole intravenously and thereafter orally for a total of 7 months. Recurrence was not observed. The third child was given amphotericin B for 2 days (discontinued due to liver dysfunction), and intravenous voriconazole for 4 days. The patient gave up therapy finally. In conclusion, HIV negative children can also develop PSM, and may be related to the STAT1/STAT3 gene mutation. For children having no response to antibiotic or antiviral therapy, bacterial/fungal culture or biopsy should be performed as soon as possible to confirm the diagnosis, and physicians should actively identify the underlying diseases of PSM patients, which is beneficial for the early diagnosis, early treatment and improvement of prognosis.