An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome

Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency that arises from defects in the NADPH oxidase complex, primarily affecting the respiratory burst in neutrophils. Kabuki syndrome (KS) is a rare genetic syndrome and often present with facial, skeletal, visceral and cardiac anomalies, immunological defects and varying degrees of mental retardation. A 20-year-old male was admitted with the complaints of the recurrent abscess. He had a history of recurrent abscesses and long-term antituberculosis treatment. Cytometric functional analysis, Sanger sequencing and whole-exome sequencing were used for the diagnosis of CGD. Both AR-CGD (p67phox defect) with homozygous c.229C>T nonsense mutation in NCF2 gene and heterozygous nucleotide change c.3983G>A in the KMT2D gene causing a novel missense mutation p. Arg1328Gln resulted in Kabuki syndrome. To our knowledge, this is the first report of both CGD and Kabuki syndrome combined in a single patient. CGD is always considered for the differential diagnosis during BCGitis history and recurrent skin abscess

Atypical presentation of chronic granulomatous disease in an adolescent boy with frontal lobe located Aspergillus abscess mimicking intracranial tumor

Chronic granulomatous disease (CGD) is an uncommon congenital phagocyte disorder characterized by recurrent life-threatening infections. CGD generally present with recurrent suppurative infections, however, intracranial fungal abscess complicating CGD may cause a diagnostic problem to anyone unfamiliar with its clinical and radiological features.BACKGROUND: Chronic granulomatous disease (CGD) is an uncommon congenital phagocyte disorder characterized by recurrent life-threatening infections. CGD generally present with recurrent suppurative infections, however, intracranial fungal abscess complicating CGD may cause a diagnostic problem to anyone unfamiliar with its clinical and radiological features.HISTORY: We report the case of a 16-year-old boy who was consulted with a differential diagnosis of an intracranial tumor. The clues of his medical history and physical examination made us consider the diagnosis of CGD. Cytometric dihydrorhodamine assay and genotyping confirmed an autosomal recessive CGD. He was successfully treated without any complication or sequel for 18 months follow-up period with surgery and interferon-gamma, in addition with, liposomal amphotericin B and voriconazole that were found to be sensitive to the Aspergillus fumigates, which had been grown from the culture of the abscess cavity.DISCUSSION: We discuss the pathogenesis, radiological techniques, and management of cerebral Aspergillus abscess in a patient with CGD.CONCLUSION: Presentation of CGD with a cerebral Aspergillus abscess, mimicking a brain tumor is extremely rare in children; clinicians and neurosurgeons must be aware. The best management modality for cerebral Aspergillus abscess is to be vigilant about the disease, whereas adjuvant surgical and medical therapy with a close follow-up must be warranted for all case

Predictive Values of Neutrophil CD64 Expression Compared with Interleukin-6 and C-Reactive Protein in Early Diagnosis of Neonatal Sepsis

Background Despite major advances in the management of newborn infants, neonatal sepsis (NS) remain important causes of neonatal morbidity and mortality in the newborn, mainly among preterm and low birth weight infants. Objective: The aim of this study was to investigate the usefulness of neutrophil CD64 expression alone and together with other infection markers in NS. Methods: Peripheral blood samples were taken from 109 neonates, who were categorized into three groups: proven or clinical sepsis (n = 35); disease without infection (n = 42); and healthy controls (n = 32). Complete blood count with differential, interleukin-6 (IL-6), C-reactive protein (CRP), and cell surface expression of CD64 on neutrophils have been evaluated in a prospective manner as a diagnostic aid for NS. Results: Expression of CD64 was significantly enhanced in neonates with sepsis compared with newborns with disease without infection and healthy controls (P = 0.001 and P = 0.001, respectively). Cutoff values of IL-6, CRP, CD64(MFI), and CD64(i) were 24.9 pg/ml, 4.05 mg/l, 87.7, and 4.39, respectively. Sensitivity-negative predictive values of IL-6, CRP, and CD64(MFI)/CD64(i) were 80.0-90.6%, 80.0-88.8%, and 88.6-94.0%, respectively. Combining all three tests increased the sensitivity to 100%; however, specificity and positive predictive value decreased to 62.1 and 55.5%, respectively. Conclusions: CD64 might be used either alone or combined with IL-6 and CRP for early diagnosis of NS. The advantages of CD64 when compared with IL-6 and CRP are rapid quantitation, very small blood volume required, and easy handling. J. Clin. Lab. Anal. 24:363-370, 2010. (C) 2010 Wiley-Liss, Inc