Immunodeficiency in a child with partial trisomy 6p.

AIM: We present a mentally retarded boy with partial trisomy of the short arm of chromosome 6 as a result of an interstitial tandem duplication of 6p12.2-p21.31 and immunodeficiency. Patients with mental retardation because of a chromosomal disorder or eponymous syndrome often experience recurrent respiratory tract infections as a result of their associated anatomical or neurological abnormalities. However, associated immune defects may also significantly contribute to their susceptibility to infections. Timely recognition and appropriate treatment of their immunodeficiency will greatly improve quality of life in these patients. CONCLUSION: Immunodeficiency may be the direct cause of recurrent respiratory tract infections in patients with mental retardation because of a chromosomal disorder or eponymous syndrome, even in the face of feeding difficulties and multiple episodes of aspiration, as is illustrated in this boy with partial trisomy 6p.

Sputum Induction in Children Is Feasible and Useful in a Bustling General Hospital Practice.

We prospectively studied the feasibility and effectiveness of sputum induction in obtaining good quality sputum and its subsequent bacterial yield in children with clinically suspected acute lower-respiratory-tract infection (aLRTI). Good quality sputum was collected in 89/98 (91%) patients. Sputum cultures revealed ≥1 bacterial pathogens in 22 cases (25%). Adverse events were infrequent and mild (6%). Sputum induction is feasible in young children and leads to an increased number of etiological diagnoses of aLRTI.

Pediatric acute Q fever mimics other common childhood illnesses.

Knowledge of Q fever has increased over the last decades, but research has mainly focused on adults. Data in children are scarce, and current knowledge is mostly based on case reports. The aim of this study was to determine predictors for acute Q fever in children in the general population. We retrospectively studied all children tested for Coxiella burnetii by serology and/or PCR upon request of their general practitioner in the regional laboratory for Medical Microbiology of the Jeroen Bosch during the Q fever outbreak in the Netherlands between 2007 and 2011. A total of 1061 patients was analyzed. Influenza-like illness and respiratory tract infection were the most common presentations of acute Q fever, mimicking other common childhood illnesses. None of the reported symptoms was significantly related to a positive test outcome and therefore presenting signs or symptoms have no predictive value in diagnosing Q-fever in children. Only diagnostic tests are reliable. As the infection generally follows a mild and uncomplicated course, we question if the difficulty of recognizing pediatric Q fever is a problem worth solving.