Deniz Aygun

A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation

Abstract Adenosine deaminase (ADA) deficiency is a rare autosomal recessive disorder of purine metabolism that leads to severe combined immunodeficiency (SCID) by primarily affecting lymphocyte development and function. ADA deficiency is a medical emergency. Early diagnosis and treatment could provide low morbidity and mortality. Patients present in the first months of life with failure to thrive, diarrhea, oral candidiasis and opportunistic infections. Herein we report a case of a 3 month old patient with ADA deficient SCID having a novel splicing mutation.

Chronic recurrent multifocal osteomyelitis: a rare skeletal disorder

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare non-infectious inflammatory bone disease of unknown aetiology. CRMO mainly affects the metaphyses of long bones and spine in children and young adolescents. It presents with recurrent episodes of bone pain and fever, resembling bacterial osteomyelitis, but cultures of lesions are sterile and it is unresponsive to antibiotic therapy. We report a case of a 3-year-old boy diagnosed with CRMO, who was initially treated for bacterial osteomyelitis, and received prolonged antibiotic therapy for chronic pain, and swelling of mandible and ulna. CRMO should be kept in mind in the differential diagnosis of chronic bone pain and osteomyelitis unresponsive to antibiotic treatment.

Achromobacter causing a thrombophlebitis and osteomyelitis combination: a rare cause.

Achromobacter xylosoxidans is a Gram-negative, aerobic bacillus, present in normal human flora of the skin and gastrointestinal tract. Infections due to Achromobacter are infrequent and have mostly been reported in immunocompromised patients. Rarely, however, the microorganism can cause soft tissue infections even in healthy subjects with a history of trauma. We report thrombophlebitis complicated with osteomyelitis secondary to Achromobacter in a 15-year-old girl with a history of purulent discharge from the ankle due to local trauma caused by tight fitting shoes.

Antifungal consumption, indications and selection of antifungal drugs in pediatric tertiary hospitals in Turkey: Results from the first national point prevalence survey

OBJECTIVES The aim of this point prevalence survey was to evaluate the consumption, indications and strategies of antifungal therapy in the paediatric population in Turkey. METHODS A point prevalence study was performed at 25 hospitals. In addition to general data on paediatric units of the institutes, the generic name and indication of antifungal drugs, the presence of fungal isolation and susceptibility patterns, and the presence of galactomannan test and high-resolution computed tomography (HRCT) results were reviewed. RESULTS A total of 3338 hospitalised patients were evaluated. The number of antifungal drugs prescribed was 314 in 301 patients (9.0%). Antifungal drugs were mostly prescribed in paediatric haematology and oncology (PHO) units (35.2%), followed by neonatal ICUs (NICUs) (19.6%), paediatric services (18.3%), paediatric ICUs (PICUs) (14.6%) and haematopoietic stem cell transplantation (HSCT) units (7.3%). Antifungals were used for prophylaxis in 147 patients (48.8%) and for treatment in 154 patients (50.0%). The antifungal treatment strategy in 154 patients was empirical in 77 (50.0%), diagnostic-driven in 29 (18.8%) and targeted in 48 (31.2%). At the point of decision-making for diagnostic-driven antifungal therapy in 29 patients, HRCT had not been performed in 1 patient (3.4%) and galactomannan test results were not available in 12 patients (41.4%). Thirteen patients (8.4%) were receiving eight different antifungal combination therapies. CONCLUSION The majority of antifungal drugs for treatment and prophylaxis were prescribed in PHO and HSCT units (42.5%), followed by ICUs. Thus, antifungal stewardship programmes should mainly focus on these patients within the availability of diagnostic tests of each hospital.

Lung abscess from Staphylococcus aureus after varicella infection in a 3-month-old infant

Varicella is a common, highly contagious viral infection of childhood. Varicella is a usually benign and self-limited disease, but it can be complicated by severe bacterial infections, especially in immunocompromised hosts. In this study, we describe a previously healthy 3-months-old infant who was admitted with high fever, cough, and respiratory distress, who had a history of varicella infection three weeks before, with exposure from her adolescent, unvaccinated sister. A lung abscess caused by Staphylococcus aureus complicating the varicella infection was discovered. The patient was aggressively treated with drainage of the abscess and intravenous antibiotics and had a good recovery.

Hyperimmunoglobulinaemia D syndrome: a rare cause of prolonged fever and treatment with anti-interleukin 1 agent

Hyperimmunoglobulinaemia D syndrome (HIDS) is an autosomal recessive, autoinflammatory disease that is characterised with intermittent febrile episodes, cervical lymphadenopathy, rashes, arthritis and gastrointestinal symptoms associated with synovial or serosal inflammation. HIDS is caused by mutations in the gene encoding mevalonate kinase enzyme. The febrile attacks usually start in early childhood and triggered by stress or vaccinations. We report a case of 16-month-old boy who had episodes of recurrent fever accompanied by maculopapular rash and lymphadenopathy. He was diagnosed as HIDS and he had heterozygote mutation of mevalonate kinase gene.

Multiple pericardial abscesses in a child with known chronic granulomatous disease

Sir, Chronic granulomatous disease (CGD) is a rare primary immunodeficiency that affects about 1 in 250,000 individuals.[1] It is known by a defective intracellular killing of phagocytized organisms. Pneumonia was noted in 79%, suppurative lymphadenitis in 53%, whereas subcutaneous abscesses in 52% in these patients.[1] Pericardial involvement is rarely seen in patients with CGD and mostly presented with pericardial effusion rather that abscess.[1] Herein, we present a case of a CGD with diffuse multiple pericardial abscesses, which is diagnosed by cardiac magnetic resonance imaging (MRI).