Özden Anal

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases

BACKGROUND Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex. From the first year of life onward, most affected patients display multiple, severe, and recurrent infections caused by bacteria and fungi. Mycobacterial infections have also been reported in some patients. OBJECTIVE Our objective was to assess the effect of mycobacterial disease in patients with CGD. METHODS We analyzed retrospectively the clinical features of mycobacterial disease in 71 patients with CGD. Tuberculosis and BCG disease were diagnosed on the basis of microbiological, pathological, and/or clinical criteria. RESULTS Thirty-one (44%) patients had tuberculosis, and 53 (75%) presented with adverse effects of BCG vaccination; 13 (18%) had both tuberculosis and BCG infections. None of these patients displayed clinical disease caused by environmental mycobacteria, Mycobacterium leprae, or Mycobacterium ulcerans. Most patients (76%) also had other pyogenic and fungal infections, but 24% presented solely with mycobacterial disease. Most patients presented a single localized episode of mycobacterial disease (37%), but recurrence (18%), disseminated disease (27%), and even death (18%) were also observed. One common feature in these patients was an early age at presentation for BCG disease. Mycobacterial disease was the first clinical manifestation of CGD in 60% of these patients. CONCLUSION Mycobacterial disease is relatively common in patients with CGD living in countries in which tuberculosis is endemic, BCG vaccine is mandatory, or both. Adverse reactions to BCG and severe forms of tuberculosis should lead to a suspicion of CGD. BCG vaccine is contraindicated in patients with CGD.

Arsenic in Human and Cow's Milk: a Reflection of Environmental Pollution

Arsenic, an environmental pollutant, is present in minute but invariable amounts in food, drinking water and ambient air. Izmir is founded on a land of long extinct volcanoes, with vast areas of lava ground suitable for agriculture. It is located at close vicinity to high thermal activity, e.g., hot springs and thermal baths. In the present study, total arsenic level in breast milk was assessed in randomly chosen 35 lactating women of different socioeconomic levels who live downtown in Izmir and in milk of 36 cows grazing on shoulder grass of highways with heavy traffic. Total arsenic was assessed on an atomic absorption spectrophotometer (AA-680 Shimadzu). Mean (± SEM) arsenic was found to be 4.219 ± 0.079 µg L-1 in breast milk, and 4.932 ± 0.38 µg L-1 in cows milk. Conclusion: in Izmir, arsenic contamination of breast milk was not found so as to be considered noxious for suckling infants, whereas was found relatively higher in cows milk. It would be prudent to remember breast and cows milk arsenic contamination in breast fed or milk fed babies living in areas with higher thermal activity or in regions where ground water is with high arsenic content.

Landau-Kleffner syndrome : Relation of clinical, EEG and Tc-99m-HMPAO brain SPECT findings and improvement in EEG after treatment

Landau-Kleffner syndrome (LKS) is a rare childhood disorder characterized by acquired aphasia with seizures and electroencephalogram (EEG) abnormalities. Tc-99m-HMPAO SPECT was performed in three right handed children with LKS. A relative decrease in perfusion was found in the left temporal cortex of all three patients and also in the left frontoparietal cortex of one patient with hyperkinetic behavior. Degree of regional cerebral perfusion impairment did not correlate with the severity of clinical and EEG abnormalities. Asymmetrical temporoparietal perfusion appears characteristic of LKS. SPECT findings in LKS were evaluated as useful in elucidating the pathogenic features of the disorder in the brain.

SERUM CORTISOL AND PROLACTIN LEVELS IN CHILDHOOD PAROXYSMAL DISORDERS

Postictal serum prolactin and Cortisol levels were measured in 37 children having either epilepsy, febrile seizure or syncopal attack and in 37 normal controls. Blood samples were obtained within 1.5 h following the seizure episode. All serum levels were compared between each group and the control groups. Significantly higher (P < 0.005) prolactin levels (56.64 ± 34.78 ng/mL) were found in the epileptic group, compared to the levels in children with febrile seizures (21.72 ± 12.92 ng/mL), syncope attacks (13.88 ± 5.27 ng/mL) and the control group (14.32 ± 5.05 ng/mL). In contrast, serum Cortisol levels were non‐specifically elevated in children with epilepsy, febrile seizures and syncopal attacks. Cortisol secretion appears to be non‐specifically elevated in all stressful events. Elevated prolactin levels may be helpful in differentiating epilepsy from febrile seizures and syncope.

Sigmoid sinus thrombosis following mastoiditis: early diagnosis enhances good prognosis.

Abstract: Sigmoid sinus thrombosis following mastoiditis is a rare, but potentially life-threatening, condition. Its treatment usually consists of systemic antibiotics and mastoidectomy. In this report, we describe a pediatric case of sigmoid sinus thrombosis following mastoiditis, presenting with nonspecific symptoms such as fever, otalgia, and headache. Diagnosis was based on magnetic resonance imaging. The patient responded very well to intravenous antibiotics with a rapid clinical improvement and complete recanalization of the thrombosed sigmoid sinus. In conclusion, mastoiditis may present few clinical symptoms. In case of treatment failure or new-onset neurologic deficit in children with acute otitis media, life-threatening complications associated with mastoiditis should be considered. Early diagnosis is important, as favorable prognosis can be achieved with conservative management without performing any surgical intervention.

Chronic recurrent multifocal osteomyelitis in a patient with selective immunoglobulin M deficiency

Chronic recurrent multifocal osteomyelitis is an unusual inflammatory process of unknown origin involving multiple osseous sites, often recurrently. Selective immunoglobulin M (IgM) deficiency is a rare primary immunodeficiency disease, which can be associated with autoimmune diseases such as systemic lupus erythematosus, Hashimoto’s disease, or hemolytic anemia. Here we report a case of a chronic recurrent multifocal osteomyelitis coexisting with selective IgM deficiency.

Infection caused by Nocardia farcinica mimicking pulmonary metastasis in an adolescent girl.

Nocardia farcinica infections are rare and potentially life threatening. Herein, we describe a case of pulmonary nocardiosis caused by N. farcinica. This 13-year-old girl admitted with 1-year history of cough, intermittent fever, and recurrent hemoptysis. She was examined for multiple pulmonary nodules mimicking pulmonary metastasis that were detected with chest radiography and computed tomography of the thorax. Eventually, N. farcinica was yielded in culture of sputum and aspiration material of pulmonary nodules. No predisposing factor could be shown for Nocardia infection. Although infections caused by N. farcinica have tendency to disseminate, and are mostly resistant to antibiotics, the patient was successfully treated with prolonged intravenous antibiotic therapy followed with oral amoxicillin-clavulanate.

Conjunctival involvement in chronic recurrent multifocal osteomyelitis.

Purpose: To report a case of chronic recurrent multifocal osteomyelitis (CRMO) with conjunctival involvement. Methods: Retrospective chart review. Results: A 10-year-old girl who complained of fatigue and debilitating pain in both hips and legs for >1 year had recurrent episodes of redness and discharge in both eyes with little response to different topical medications. The diagnosis of CRMO was confirmed with the help of magnetic resonance imaging, bone scan, and bone biopsy results. She had moderate hyperemia and multiple discrete salmon-colored lesions in both palpebral and fornical conjunctivae. Biopsy revealed chronic inflammatory infiltration composed predominantly of lymphocytes forming a follicular pattern. Conjunctival lesions worsened during relapses of skeletal symptoms, improved during remission, and resolved shortly after the initiation of oral prednisolone therapy. No recurrence was observed during 16 months of follow-up. Conclusions: Salmon-colored conjunctival lesions may accompany CRMO and respond favorably to systemic steroid therapy.

Cyclosporin Treatment Improves Skin Findings in Omenn Syndrome

Omenn syndrome is a combined immunodeficiency characterized by a generalized erythematous skin rash, enlarged lymph nodes, hepatosplenomegaly, severe susceptibility to infections, eosinophilia, and hyperimmunoglobulinemia E. A 3‐month‐old girl was admitted to our hospital with a history of recurrent sepsis. Physical examination revealed severe erythroderma, hepatosplenomegaly, lymphadenopathy, and failure to thrive. Laboratory findings revealed leukocytosis, lymphocytosis with high CD3 T‐cells, a high CD4:CD8 ratio, absence of CD19 B‐cells, high eosinophil count, and low immunoglobulin levels. A heterozygote RAG1 gene mutation was found. She had itchy, scaling, ichthyosiform erythroderma and protracted diarrhea. Cyclosporin treatment up to 10 mg/kg effectively resolved erythroderma and lowered total eosinophil counts, and she gained weight during treatment. Since extensive erythroderma with generalized itching causes patient discomfort in Omenn syndrome, cyclosporin treatment can be considered while waiting for treatment with hematopoietic stem cell transplantation.

Chanarin-dorfman syndrome with multi-system involvement in two siblings.

Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan’s anomaly) in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear. Conflict of interest:None declared.