Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center.

Background: Chronic granulomatous disease (CGD) is a genetic disorder caused by defective oxidative burst within phagocytes, manifesting as recurrent, severe infections as well as hyperinflammation. Objective: This is the first report from the United Arab Emirates (UAE) to describe the demographic, clinical, laboratory, radiological, and genetic characteristics of patients with CGD. Methods: This is a retrospective study that was conducted at Tawam Hospital in the UAE on patients with confirmed CGD between 2017 and 2022. Results: A total of 14 patients were diagnosed with CGD, of whom 13 patients had autosomal recessive (AR) CGD due to NCF1 deficiency. Consanguinity was noted in all patients with AR CGD, whereas positive family history was identified in 50% of cases. The median age of onset of symptoms was 24 months, while the median age at diagnosis was 72 months. Lymphadenitis was the most common clinical feature identified in 71% of patients. Other common infectious manifestations included abscess formation (57%), pneumonia (50%), invasive aspergillosis (21%), oral thrush (14%), and sepsis (14%). Disseminated trichosporonosis was reported in one patient. Autoimmune and inflammatory manifestations included celiac disease in two patients, diabetes mellitus and asymptomatic colitis in one patient each. Genetic analysis was performed in all patients; NCF1 deficiency was diagnosed in 13 (93%) patients, with c.579G>A being the most prevalent pathogenic variant identified. The treatment modalities, as well as treatment of acute infections, treatment modalities included antimicrobial prophylaxis in 12 (86%) patients and hematopoietic stem cell transplant in six patients (42%). Conclusion: This is the first report from the UAE describing the clinical and molecular characteristics of patients with CGD. The homozygous variant c.579G>A causing NCF1 deficiency can be considered as a founder mutation for AR CGD in the UAE.

Clinical and epidemiological features and severity markers in children admitted with multisystem inflammatory syndrome in children (MISC) in a tertiary care center in the United Arab Emirates.

BACKGROUND: Multisystem inflammatory syndrome in children (MISC) is a phenomenon that appeared in children infected with or exposed to severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2). The typical onset of MISC is 4-6 weeks following SARS-CoV-2 infection and is formulated to be due to an immune response. METHODS: Our study retrospectively analyzed data from a tertiary center in United Arab Emirates of MISC patients who were admitted to either general pediatric wards or pediatric intensive care (PICU) or who came exclusively for follow-up (post-PICU admission) from May 2020 to August 2021. RESULTS: The total sample size was 50 patients, and the study included a comparison of MISC-PICU admissions with MISC-non-PICU admissions. The MISC-PICU sample size was 18 patients, 50% females, with mean age of 8.3 years all were previously healthy. MISC-PICU patients had deranged blood counts with a lower hemoglobin count, a more pronounced lymphopenia and thrombocytopenia along with hypoalbuminemia. MISC-PICU patients presented with relatively higher inflammatory markers: C-reactive protein, procalcitonin, ferritin, and d-dimer. Immunological studies were significantly higher for interleukin-6 levels in PICU patients. On echocardiography, higher myocardial dysfunction was more notable in MISC-PICU patients. Likewise, MISC-PICU patients were provided with more extensive therapy. As part of our study course, we reevaluated our MISC-PICU patients twice, once at 48 h post-PICU admission and again 4-6 weeks after discharge from the hospital. No deaths have been recorded in the cohort. CONCLUSION: This study evaluated risk factors of MISC and potential severity features. Follow-up of patients on discharge showed improvement across all domains.

Granulicatella adiacens Causing a Parapharyngeal Abscess in a 10-Month-Old Infant: A Rare-Case Report and Literature Review of Deep Neck Infections (DNIs) in Children.

Granulicatella adiacens is a rare variant of the Streptococcus bacteria. When isolated, G. adiacens has been described in cases of endocarditis and bacteremia, but less commonly seen in isolated pyogenic infections. We report a case of a parapharyngeal abscess caused by G. adiacens in an otherwise healthy 10-month-old infant, which was successfully treated with antibiotics and surgical drainage. To the best of our knowledge, this is the first described case of a pediatric deep soft tissue neck infection caused by G. adiacens with one other report in an adult. Additionally, of all localized infections from this bacteria, this is only the second reported case in the pediatric population. We also include an evidence-based literature review of the clinical presentation, microbiology, imaging modalities, and management approach to deep neck infections (DNIs).

Kawasaki disease (KD) and multisystem inflammatory syndrome in children (MIS-C) in a Middle Eastern patient cohort.

OBJECTIVE: This is a comprehensive characteristic study of Kawasaki disease (KD) and Multi system inflammatory syndrome in children (MIS-C) in the Middle East that creates a formula to differentiate between the two. METHODS: We conducted a descriptive comparative study of KD and MIS-C in the United Arab Emirates. Retrospective MIS-C and KD cohorts were recruited between January 2017 until August 2021.We compared clinical and laboratory characteristics between both groups. Our data were compared with 87 patients with KD or MIS-C from the literature. RESULTS: We report on123 patients. Sixty-seven (54%) met the criteria for KD (36 male, 43 Arab), and fifty-six (46%) met the criteria for MIS-C (28 male, 35 Arab). The median age was 2.2 years range (0.15-10.7) in the KD group and 7.3 years (0.7-15.2) in the MIS-C group (P < 0.001). The clinical features on admission showed an increase in gastrointestinal manifestations in MIS-C compared with KD (84% vs. 31%, P < 0.001). Laboratory tests on admission revealed a significant increase in the following tests in KD compared with MIS-C; white blood cells (mean 16.30 10(3) µcL vs. 11.56 10(3) µcL, P < 0.001), absolute neutrophils (mean 10.72 10(3) µcL vs. 8.21 10(3) µcL, P 0.008), absolute lymphocytes (mean 3.92 10(3) µcL vs. 2.59 10(3) µcL, P 0.003), erythrocyte sedimentation rate (mean 73 mm/hr vs. 51 mm/hr, P < 0.001) and platelets (median {390 10(3) µcL vs. 236 10(3) µcL, P < 0.001}). In contrast, procalcitonin and ferritin were increased in the MIS-C group (2.4 )ng/mL, 370 ng/mL; P < 0.001). Cardiac dysfunction and admission to the pediatric intensive care unit were higher in MIS-C than in KD (21% vs. 8% and 33% vs. 7.5%, respectively, P < 0.001). CONCLUSION: This study showed vast similarities between KD and MIS-C, suggesting that they lie along the same clinical spectrum. However, there are several differences between the two disease entities suggesting that MIS-C most likely represents a new severe variant of KD. Based on our findings in this study, we created a formula to differentiate between KD and MIS-C.

The genomic landscape of rare disorders in the Middle East.

BACKGROUND: Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated personalized management plans. METHODS: We established a clinical genomics and genetic counseling facility, within a multidisciplinary tertiary pediatric center, in the United Arab Emirates to locally diagnose and manage patients with rare diseases. Clinical genomic investigations included exome-based sequencing, chromosomal microarrays, and/or targeted testing. We assessed the diagnostic yield and implications for clinical management among this population. Variables were compared using the Fisher exact test. Tests were 2-tailed, and P < .05 was considered statistically significant. RESULTS: We present data on 1000 patients with rare diseases (46.2% females; average age, 4.6 years) representing 47 countries primarily from the Arabian Peninsula, the Levant, Africa, and Asia. The cumulative diagnostic yield was 32.5% (95% CI, 29.7-35.5%) and was higher for genomic sequencing-based testing than chromosomal microarrays (37.9% versus 17.2%, P = 0.0001) across all indications, consistent with the higher burden of single gene disorders. Of the 221 Mendelian disorders identified in this cohort, the majority (N = 184) were encountered only once, and those with recessive inheritance accounted for ~ 62% of sequencing diagnoses. Of patients with positive genetic findings (N = 325), 67.7% were less than 5 years of age, and 60% were offered modified management and/or intervention plans. Interestingly, 24% of patients with positive genetic findings received delayed diagnoses (average age, 12.4 years; range 7-37 years), most likely due to a lack of access to genomic investigations in this region. One such genetic finding ended a 15-year-long diagnostic odyssey, leading to a life-threatening diagnosis in one patient, who was then successfully treated using an experimental allogenic bone marrow transplant. Finally, we present cases with candidate genes within regions of homozygosity, likely underlying novel recessive disorders. CONCLUSIONS: Early access to genomic diagnostics for patients with suspected rare disorders in the Middle East is likely to improve clinical outcomes while driving gene discovery in this genetically underrepresented population.

Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations.

We describe a case series of five infants (age range: 1-90 days; 4 females and 1 male) who presented to Al Jalila Children's intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipino, or Pakistani. Trio rapid whole genome sequencing (rWGS) was performed on all five patients and their parents within the hospital's genomics facility. Results were returned within ~37 h from blood sample draws and were diagnostic in 3 out of 5 patients. Positive findings were a homozygous pathogenic variant in POMT1 gene causing muscular dystrophydystroglycanopathy, a mosaic tetrasomy of the short arm of chromosome 12 (12p13.33p11.1) causing Pallister-Killian syndrome, and compound heterozygous pathogenic variants in the LIPA gene causing lysosomal acid lipase deficiency and Wolman disease. The rWGS analysis provided fast and precise diagnostic findings in those 3 patients and also aided in devising better management plans for them in the intensive care setting. For example, the 3-month-old infant with pathogenic variants in the LIPA gene is now a candidate for an FDA-approved, potentially lifesaving enzyme replacement therapy (sebelipase alfa). Our case series emphasize the feasibility and utility of rWGS in pediatric intensive care setting, in a diverse population that has long been underserved in genomic services. Significant investments in local healthcare infrastructure are needed, globally, for more equitable access of genomic medicine among vulnerable patients.

Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children.

Importance: Clinical, genetic, and laboratory characteristics of Middle Eastern patients with multisystem inflammatory syndrome in children (MIS-C) have not yet been documented. Objective: To assess the genetic and clinical characteristics of patients with MIS-C of primarily Arab and Asian origin. Design, Setting, and Participants: A prospective, multicenter cohort study was conducted from September 1, 2020, to August 31, 2021, in the United Arab Emirates and Jordan. Forty-five patients with MIS-C and a matched control group of 25 healthy children with a confirmed SARS-CoV-2 infection status were recruited. Whole exome sequencing in all 70 participants was performed to identify rare, likely deleterious variants in patients with MIS-C and to correlate genetic findings with the clinical course of illness. Exposures: SARS-CoV-2. Main Outcomes and Measures: Fever, organ system complications, laboratory biomarkers, whole exome sequencing findings, treatments, and clinical outcomes were measured. The Mann-Whitney U test was used to assess the association between genetic variants and MIS-C attributes. The Fisher exact test was used to compute the genetic burden in MIS-C relative to controls. Results: A total of 45 patients with MIS-C (23 [51.1%] male; 30 [66.7%] of Middle Eastern origin; mean [SD] age, 6.7 [3.6] years) and 25 controls (17 [68.0%] male; 24 [96.0%] of Middle Eastern origin; mean [SD] age 7.4 [4.0] years) participated in the study. Key inflammatory markers were significantly dysregulated in all patients with MIS-C. Mucocutaneous and gastrointestinal manifestations were each reported in 36 patients (80.0%; 95% CI, 66.1%-89.1%), cardiac findings were reported in 22 (48.9%; 95% CI, 35.0%-63.0%), and neurologic findings were reported in 14 (31.1%; 95% CI, 19.5%-45.6%). Rare, likely deleterious heterozygous variants in immune-related genes, including TLR3, TLR6, IL22RA2, IFNB1, and IFNA6, were identified in 19 patients (42.2%; 95% CI, 29.0%-56.7%), of whom 7 had multiple variants. There was higher enrichment of genetic variants in patients relative to controls (29 vs 3, P < .001). Patients with those variants tended to have earlier disease onset (7 patients [36.8%; 95% CI, 19.1%-58.9%] with genetic findings vs 2 [7.7%; 95% CI, 2.1%-24.1%] without genetic findings were younger than 3 years at onset) and resistance to treatment (8 patients [42.1%; 95% CI, 23.1%-63.7%] with genetic findings vs 3 patients [11.5%; 95% CI, 4.0%-29.0%] without genetic findings received 2 doses of intravenous immunoglobulin). Conclusions and Relevance: The results of this cohort study suggest that rare, likely deleterious genetic variants may contribute to MIS-C disease. This finding paves the way for additional studies with larger, diverse populations to fully characterize the genetic contribution to this new disease entity.

A Case of Successfully Treated Central Line-Associated Bloodstream Infection Due to Vancomycin-Resistant Leuconostoc Citreum in a Child With Biliary Atresia.

Infections caused by the Leuconostocspecies have been increasingly described in the literature. They are Gram-positive, catalase-negative cocci that are intrinsically resistant to glycopeptides, including vancomycin. Although rarely pathogenic in humans, they have been primarily found in patients with immunosuppression, and a history of prolonged antibiotics use. We report a rare case of central venous catheter (CVC) infection caused by Leuconostoc citreum, which was successfully treated with salvaging of the CVC, aiming to highlight the potential risk factors and share the course of management of our patient.

A Rare Case of Pediatric Central Venous Catheter-Related Bloodstream Infection With Kocuria Varians.

Cases of central line blood infections caused by Kocuria spp. are limited in the literature. Most of those infections have been detected in hospitalized patients with severe underlying disease or those with implanted catheters or with suppressed immunity. They are usually non-pathogenic in humans, but few cases of opportunistic infections in adult and pediatric populations have been reported. They can be serious in certain occasions. So treating physicians should not underestimate or ignore the significance of the infection with these bacteria. We report a rare case of central venous catheter (CVC) infection associated with Kocuria varians, which was successfully treated with CVC salvage.

The Spectrum of Neurological Manifestations of Human Herpesvirus 6 Infection in Children.

Human herpesvirus 6 (HHV-6) is a member of the Herpesviridae family. There are two HHV-6 species: HHV-6A and HHV-6B. HHV-6B causes the majority of documented primary infections and reactivation events. In this case series, we illustrate the varied spectrum of clinical and radiological features of HHV-6 encephalitis and its management in children. We have described three cases of HHV-6 encephalitis in the age group between nine months and two years. All had an HHV-6 viral load detected in cerebrospinal fluid (CSF) samples. Two of which are of immunocompetent patients. This case series highlights the importance of including HHV-6 infection as one of the differential diagnoses in a child with suspected central nervous system infection and of considering adding CSF HHV-6 polymerase chain reaction (PCR) test for detection. Increasing awareness of this condition will aid physicians in the timely diagnosis and early treatment of HHV-6 encephalitis.

Non-resolving Pneumonia As Presentation of Incomplete Kawasaki Disease in Arabic Girl.

Kawasaki disease (KD), particularly incomplete form, might present with wide spectrum clinical features. The treatment regimen includes a combination of intravenous immunoglobulins (IVIG) and aspirin. The use of steroids has been studied as an adjunctive therapy and its role in preventing coronary artery (CA) complications is still debatable. Here, we are presenting a rare presentation of incomplete KD. A previously healthy 5-year-old Arab girl, presented with clinical features consistent with pneumonia, rash, and enlarged cervical lymph nodes. On admission, antibiotics were administered intravenously in addition to steroids considering her reactive airway disease history which resulted in interim improvement. Yet, upon clinical worsening, her clinical status was revised, laboratory and physical examination revealed raised inflammatory markers, new opacity of pulmonary consolidation on chest X-ray, and peeling of skin. Because of high clinical suspicion of incomplete KD combined with her echocardiography that showed prominent coronary arteries, diagnosis of incomplete KD was made. After treating her with IVIG and aspirin, the patient made a full recovery. We are reporting pneumonia-like presentation of incomplete KD. High index of suspicion is required to diagnosis and treat promptly to prevent complications.

Beta-lactamase-negative ampicillin-resistant Haemophilus influenzae type b meningitis in partially immunized immunocompetent child: a case report.

INTRODUCTION: Haemophilus influenzae is a Gram-negative coccobacillus that can cause many different kinds of infection, ranging from mild ear infection to life-threatening diseases like epiglottitis and meningitis. Encapsulated type b Haemophilus influenzae was most commonly responsible for Haemophilus influenzae meningitis in children before introduction of Haemophilus influenzae conjugate vaccine. None or partially immunized children are acquiring meningitis owing to resistant strains of Haemophilus influenzae, namely beta-lactamase-negative ampicillin-resistant strain. CASE PRESENTATION: We reported the case of a 2-year-old Emirati boy who presented to our emergency department with fever, diarrhea, vomiting, and fluctuating levels of consciousness. He was developmentally normal with no significant past medical history, except he was partially immunized. Earlier, he had been treated for acute gastroenteritis with intravenous fluids and antiemetics in another hospital and was discharged. His parents escorted him to our emergency department as he became very drowsy. Examination revealed that he was in septic shock. He was immediately treated with oxygen, intravenous antibiotics, and fluids after performing septic workup. He was then shifted to intensive care unit. Blood culture and cerebrospinal fluid Gram stain confirmed diagnosis of beta-lactamase-negative ampicillin-resistant Haemophilus influenzae. He was started on intravenous ceftriaxone, acyclovir, and dexamethasone. He still spiked fever after 1 week. Therefore, ceftriaxone was replaced by meropenem. He recovered well with no sequelae. CONCLUSION: This case highlights atypical presentation of life-threatening illness along with microbial resistance that had positive outcome due to timely diagnosis and aggressive management by a multidisciplinary team.

Case Report: CMV-Associated Congenital Nephrotic Syndrome.

Background: Congenital nephrotic syndrome, historically defined by the onset of large proteinuria during the first 3 months of life, is a rare clinical disorder, generally with poor outcome. It is caused by pathogenic variants in genes associated with this syndrome or by fetal infections disrupting podocyte and/or glomerular basement membrane integrity. Here we describe an infant with congenital CMV infection and nephrotic syndrome that failed to respond to targeted antiviral therapy. Case and literature survey highlight the importance of the "tetrad" of clinical, virologic, histologic, and genetic workup to better understand the pathogenesis of CMV-associated congenital and infantile nephrotic syndromes. Case Presentation: A male infant was referred at 9 weeks of life with progressive abdominal distention, scrotal edema, and vomiting. Pregnancy was complicated by oligohydramnios and pre-maturity (34 weeks). He was found to have nephrotic syndrome and anemia, normal platelet and white blood cell count, no splenomegaly, and no syndromic features. Diagnostic workup revealed active CMV infection (positive CMV IgM/PCR in plasma) and decreased C3 and C4. Maternal anti-CMV IgG was positive, IgM negative. Kidney biopsy demonstrated focal mesangial proliferative and sclerosing glomerulonephritis with few fibrocellular crescents, interstitial T- and B-lymphocyte infiltrates, and fibrosis/tubular atrophy. Immunofluorescence was negative. Electron microscopy showed diffuse podocyte effacement, but no cytomegalic inclusions or endothelial tubuloreticular arrays. After 4 weeks of treatment with valganciclovir, plasma and urine CMV PCR were negative, without improvement of the proteinuria. Unfortunately, the patient succumbed to fulminant pneumococcal infection at 7 months of age. Whole exome sequencing and targeted gene analysis identified a novel homozygous, pathogenic variant (2071+1G>T) in NPHS1. Literature Review and Discussion: The role of CMV infection in isolated congenital nephrotic syndrome and the corresponding pathological changes are still debated. A search of the literature identified only three previous reports of infants with congenital nephrotic syndrome and evidence of CMV infection, who also underwent kidney biopsy and genetic studies. Conclusion: Complete workup of congenital infections associated with nephrotic syndrome is warranted for a better understanding of their pathogenesis ("diagnostic triad" of viral, biopsy, and genetic studies). Molecular testing is essential for acute and long-term prognosis and treatment plan.

Parvovirus B19 Infection Mimicking Juvenile Myelomonocytic Leukemia in an Immunocompetent Child.

Most of the parvovirus infections in humans are benign. Clinical manifestations of parvovirus B19 infections in children vary from erythema infectiosum in healthy children to aplastic crisis in patients with hematological disorders (such as sickle cell disease) and immunocompromised patients. Parvovirus B19 infects the erythroid progenitor cell in the bone marrow and causes transient erythroblastopenia. Transient leukoerythroblastic reaction is a rare presentation of parvovirus infection. Our case is a child presenting with fever of unknown origin (FUO) who was investigated and treated in different hospitals for FUO. He was investigated for infections, rheumatological causes, and malignancies. Clinical manifestations and bone marrow findings were mimicking juvenile myelomonocytic leukemia (JMML) but eventually diagnosed to have a parvovirus B19 infection, which resolved spontaneously in due course.

Utility of clinical exome sequencing in a complex Emirati pediatric cohort.

Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with a reported average diagnostic yield of ~25% in this patient poulation. The utility of CES in the United Arab Emirates (UAE) has not been previously investigated, most likely due to the lack of the appropriate tertiary pediatric centers and diagnostic genomic facilities in this country. Here, we report, for the first time, CES findings on a multispecialty pediatric cohort in the UAE (N = 51). This cohort, which was mostly Emirati (86%; 44/51), was followed at Al Jalila Children's Hospital (AJCH), the first and only dedicated tertiary pediatric center in the country. CES demonstrates a high diagnostic yield (41%; 21/51) in this cohort, where 55% (28/51) had previous non-diagnostic genetic testing while for the remaining individuals (45%), CES was the first-tier test. Given the reported high consanguinity rate in this population, 48% of the positive cases (10/21) were due to genes associated with recessive conditions. However, 11 out of 21 positive cases (52%) were due to heterozygous pathogenic variants in genes known to cause dominantly inherited disorders, including a case with a dual diagnosis attributed to two different genes (2%; 1/51), and another case with a novel de novo variant and new phenotypic features for a known gene (2%; 1/51). Overall, we have identified 13 novel clinically significant variants and showed that application of CES as a first-tier test plays a significant role in genetic diagnosis and management of Emirati pediatric patients.

Case Reports of Bacillus Calmette-Guérin (BCG) Osteomyelitis: A Rare Complication in Immunocompetent Infants.

Bacillus Calmette-Guérin (BCG) vaccine is a live attenuated vaccine used globally since 1921, and in the United Arab Emirates (UAE), it is administered to all newborns within the first few days of life for well-established benefits. BCG osteomyelitis is a rare complication that should be considered while assessing osteomyelitis in children. This report describes three cases of BCG osteomyelitis involving proximal metaphysis of the humerus in 11 months and three months old immunocompetent male infants and the left proximal tibia in a two-year-old immunocompetent female. To the best of our knowledge, these are the first cases to be reported in the UAE. The report outlines in detail how to make a timely diagnosis by explaining the insidious clinical presentation of BCG osteomyelitis, including its radiologic, microbiologic, and histologic aspects. As well, it outlines the treatment course carried out for these three patients. As such, this report will aid physicians in staying vigilant for such rare complication and commencing early treatment.

Kawasaki shock syndrome in an Arab female: case report of a rare manifestation and review of literature.

BACKGROUND: Kawasaki disease shock syndrome is a relatively new and rare complication of Kawasaki disease first described in 2009. CASE PRESENTATION: This report describes a two-year-old Arab descent female presenting with a history of high-grade fever of 2 days duration with non-specific signs of viral illness and erythematous rash. The patients' condition deteriorated rapidly requiring admission to intensive care unit. In the intensive care unit, she developed a right upper quadrant mass that was diagnosed as hydrops of the gallbladder by ultrasonography. After one dose of intravenous immunoglobulin, the patient started to recover and was transferred out of intensive care after 2 days. CONCLUSION: Among the complications of Kawasaki disease, shock syndrome is rare and usually will have deleterious results if not diagnosed and managed promptly.

Pulmonary tuberculosis outbreak in a pediatric population.

Community-based outbreaks of Mycobacterium tuberculosis are uncommon in the United States but represent a dramatic type of epidemic that can lead to considerable investigations. Most of our knowledge regarding spread of tuberculosis (TB) has accumulated from the study of outbreaks. We describe the most recent outbreak of TB in Genesee County, Michigan. In February 2007, isoniazid-sensitive infectious pulmonary TB was identified in a 45-year-old African American grandmother who frequently provided care for her grandchildren and other children. The source case was reported to the Genesee County Health Department, which started an investigation to identify family and social contacts. We reviewed past medical records of contacts and prioritized them for evaluation based on the period of exposure to the index case. Health department staff screened contacts using clinical evaluation, tuberculin skin test, and chest radiography when indicated. Results were reviewed, and data were analyzed using descriptive inferential and epidemiological statistics.

Hyperimmunoglobulin e syndrome presenting as osteogenesis imperfecta in a 3 year old child.

We present a case of hyperimmunoglobulin E (hyper-IgE) syndrome in a three year old boy. There are many pitfalls in diagnosing this disease in the very young population, mainly due to the ambiguity of some diagnostic criteria in this population. Recognizing this syndrome early in life can potentially be very beneficial to the patients involved and the medical system as a whole. Early diagnosis can lead to fewer diagnostic tests, fewer referrals, and more focused exams, thus potentially reducing medical cost while also reducing the number of serious infections later in life, including those which are potentially fatal. Additionally, a wellknown association between lymphoma and hyper-IgE syndrome has been established; while no recommendations are currently in place for screening, early diagnosis could help medical providers have a higher threshold for diagnosis of this disease.

Conjunctival changes in children with Kawasaki disease: cytopathologic characterization.

OBJECTIVE: To examine the cytopathological changes in the conjunctiva of patients with active Kawasaki disease. STUDY DESIGN: Case-control prospective study. Bilateral conjunctival swabs were obtained from 3 groups of children: patients with acute KD (11), age-matched controls (7), and patients with inactive KD (9). The ThinPrep prepared and Papanicolaou stained smears were examined blindly by 2 cytopathologists. The cell count differential of cells was performed and recorded quantitatively and comparisons between the 3 patient groups were made. RESULTS: Only neutrophil counts showed a significant difference among the 3 groups. The average scores for the acute KD, control group, and patients with inactive KD were 3.5, 1.6 and 1.3, respectively. Using the Pearson chi2 test, the difference between the acute KD and the inactive group was statistically significant for both eyes (right p = 0.049, left p = 0.004). Samples from acute KD patients were more cellular. Neutrophils surrounding conjunctival epithelial cells, or "neutrophilic rosetting", were seen in 4 (36%) cases of the active disease group but not in the other groups. CONCLUSION: "Neutrophilic conjunctivitis" is characteristic in patients of acute KD that may be of value in the initial evaluation and subsequent follow-up of KD patients.