Among 276 paediatric cases of brucellosis seen over a 7-year period, 16 patients (5.8%) with pancytopenia were identified. The most frequent presentations were fever, malaise, anorexia, weight loss, arthralgia, and hepatosplenomegaly. Fourteen patients (87.5%) had positive blood and/or bone marrow cultures for Brucella melitensis. Bone marrow aspiration specimens showed hypercellular-ity in 14 patients and normocellularity in 2. Histiocytes, eosinophils and plasma cells were increased in every marrow aspirate, and haemophagocytosis was observed in 14 patients (87.5%). Non-caseating granulomas were present in the bone marrow biopsy of 11 patients (68.8%). The pancytopenia was transient, and resolved on treatment of the Brucella infection.

BackgroundMutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis.Case presentationHere, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene.ConclusionsOur data support previous reports in the literature that associate FLNA gene mutation and lung disease.

The occurrence of respiratory syncytial virus (RSV) infection among young children hospitalized with lower respiratory tract illness, at King Khalid University Hospital in Riyadh, was examined during the autumn-winter season between September 1991 and February 1992. Sixty-nine cases were diagnosed by immunofluorescent antibody staining of viral antigen in nasopharyngeal aspirates from 127 children, constituting 54 per cent of these patients. Virus culture was attempted only in a few cases, yielding two isolates. Most children were < 1 year of age (median 2 months). Bronchiolitis and bronchopneumonia were the major diagnoses on admission. Hospitalization was for an average of 5 days (range 1-36 days). Treatment was supportive but most children received antibiotic therapy. There was no mortality. Few other bacterial or viral pathogens could be identified from RSV-positive or -negative patients. These results indicate that, during the season of infection, RSV may be the main pathogen of lower respiratory tract illness in hospitalized young children in this region.

The relationships between cardiorespiratory fitness, daily physical activity, and selected coronary artery disease (CAD) risk factors were evaluated in a sample of 91 preadolescent boys. Cardiorespiratory fitness was assessed (VO2max). Physical activity level was assessed using daytime heart rate telemetry. CAD risk factors included total cholesterol, fasting triglycerides, HDL-cholesterol, LDL-cholesterol, fasting blood glucose, systolic and diastolic blood pressures, and body fat content. The mean value of VO2max exhibited significant negative relationship with body fat percent (r = -0.55). Controlling the effects of age, body mass index and body fat percent resulted in a significant inverse relationship between physical activity and systolic (r = -0.29) and diastolic (r = -0.28) blood pressures. Analysis of data by quartiles revealed significant differences only in body fat percent across fitness categories, while no significant differences were detected in the other CAD risk factors. However, higher HDL-cholesterol and lower triglycerides levels were observed in those boys with higher levels of physical activity. It was concluded that except with body fatness, cardiorespiratory fitness is not strongly associated with lower CAD risk factors, while physical activity level was significantly associated with lower blood pressure level but not with the other CAD risk factors.

Twenty-nine of 27,662 pregnant women had autoimmune thrombocytopenia at the time of delivery at King Khalid University Hospital over 6 years starting June 1986. Twenty-six had idiopathic thrombocytopenic purpura (ITP), gave birth to 33 infants, of which 22 were by spontaneous vaginal delivery, eight by lower segment cesarean section, and two by forceps. Fourteen (44%) of the 32 living infants had platelets less than 150 x 10(9)/L and four (12.5%) had severe thrombocytopenia (platelets less than 50 x 10(9)/L). The mothers' platelets of less than 50 x 10(9)/L at delivery were found to be predictive of thrombocytopenia in their infants (P < 0.027), compared with mothers' platelet of more than 50 x 10(9)/L. Maternal treatment with prednisone did not seem to have significant effect on infants' platelets (P < 0.89). All infants with severe thrombocytopenia (less than 50 x 10(9)/L) at birth had ultrasound done and were found to be normal. We conclude that: (1) steroid given to pregnant women with ITP does not increase infants' platelet counts, (2) severe thrombocytopenia in the mothers (platelet counts less than 50 x 10(9)/L) is highly predictive of thrombocytopenia in their infants; (3) cesarean section should be limited to the mother with severe thrombocytopenia if fetal scalp platelets are less than 50 x 10(9)/L.

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Background Primary ciliary dyskinesia (PCD) is a ciliopathy with diverse clinical and genetic findings caused by abnormal motile cilia structure and function. In this study, we describe the clinical characteristics of confirmed PCD cases in our population and report the radiological, genetic, and laboratory findings. Methods This was a retrospective, observational, single-centre study. We enrolled 18 patients who were diagnosed with confirmed PCD between 2015 and 2019. We then analyzed their data, including clinical findings and workup. Results In our cohort, 56% of patients had molecularly confirmed PCD, and RSPH9 was the most common gene identified. Transmission electron microscopy (TEM) showed an ultrastructural defect in 64% of samples, all of which matched the genetic background of the patient. Situs inversus (SI) was observed in 50% of patients, and congenital heart disease was observed in 33%. The median body mass index (BMI) was 15.87 kg/m 2 , with a median z score of -1.48. The median FEV1 value was 67.6% (z score - 2.43). Radiologically, bronchiectasis was noted in 81% of patients at a variable degree of severity. Lung bases were involved in 91% of patients. We were unable to correlate the genotype-phenotype findings. Conclusion We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.

IntroductionAir leak is a well-recognized complication of advanced cystic fibrosis in older children and adults but is extremely rare in infants. To the best of our knowledge, this is the youngest reported pediatric case of an air leak from a major airway.Case presentationA 4-month-old Yamani baby girl with a family history of cystic fibrosis initially presented with a history of a persistent paroxysmal cough for 3 weeks and vomiting for 1 week. Laboratory evaluation indicated pseudo-Bartter’s syndrome. Imaging showed a tracheal tear with pneumomediastinum and subcutaneous emphysema that was treated conservatively.ConclusionsThis case highlights the possibility of air leak in the population of young patients with cystic fibrosis and it shows a successful conservative management of tracheal tear. Physicians should consider cystic fibrosis in infants presenting with air leak.