Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome.

Prolidase deficiency (PD) is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. It occurs due to the mutations in the prolidase gene ( PEPD ) that result in loss of prolidase activity. We reported here a child who had presented with features compatible with hyper-immunoglobulin E syndrome (HIES) like recurrent skin ulcers, recurrent infections, facial dysmorphism, retained primary teeth, and elevated levels of immunoglobulin E levels but with normal flow cytometric assays, which was later diagnosed as PD.

Central Venous Catheter-associated Venous Thromboembolism in Children: A Prospective Observational Study.

Our objective was to study the proportion of children developing Catheter-related thrombosis (CRT) following central venous Catheter (CVC) insertion and the risk factors of CRT in pediatric patients with CVC. One hundred four children aged 29 days to 18 years who had a percutaneous non-tunneled CVC inserted were enrolled. Ultrasonogram (USG) with venous Doppler scan was performed within 48 hours of CVC removal to diagnose CRT. The major indications for CVC insertion were surgical care 34 (32.6%) and ICU care 28(26.9%). The median age of the patients was 3 years, and 75% were males. The median number of CVC days was 10 (IQR 5.15). CRT was seen in 45(43.3%), of which 33 (73.3%) were asymptomatic. The rate of CRT was 35.69 cases per 1000 CVC days (95% CI 26.03-47.75). The number of days a catheter was in place and USG-guided catheter insertion was a significant risk factor. The multivariate logistic regression model showed that the duration of CVC in situ was independently associated with the development of CRT (OR, 1.06; 95% CI 1.0-1.1; P=0.02). CVC duration was a major risk factor for the development of CRT. There was a higher risk of developing a symptomatic CRT with central venous catheters than hemodialysis sheaths.

Monocytic Human Leukocyte Antigen-DR Expression Levels to Predict Outcome in Children With Severe Sepsis.

OBJECTIVES: To assess the association between monocytic Human Leukocyte Antigen-DR (mHLA-DR) expression and outcome in children with severe sepsis. METHODS: Consecutive children, aged 29 days to 15 years, who were admitted with severe sepsis or septic shock in the pediatric intensive care unit (PICU) were enrolled. mHLA-DR expression [antigen bound per cell (ABC)] was assessed on two time points: between 72 to 120 hours (P1) and 121 to 168 hours (P2), of stay in PICU and the difference between the two was calculated as delta mHLA-DR. Outcomes were noted for survival, mortality and secondary infection during the hospital stay. RESULTS: Forty-seven children with median (IQR) age 24 (10, 96) months and a median (IQR) duration of illness of 3 (3, 5) days, were enrolled consecutively. Pediatric Logistic Organ Dysfunction (PELOD) score >10 was observed in 63.8% children. 18 children succumbed. The median mHLA-DR levels (ABC) at P1 were significantly higher in children who survived as compared with those who expired (7409 vs. 2509, P = 0.004). Similarly, the median mHLA-DR levels (ABC) at P2 were higher in those who survived than the expired group (14728 vs. 2085, P = 0.001). The median delta mHLA-DR levels (ABC) were 4574 and 309 for the survived and expired group, respectively (P = 0.012). mHLA-DR at P1 (P = 0.004), mHLA-DR at P2 (P = 0.001) and delta mHLA-DR (P = 0.012) was significantly associated with mortality but not associated with secondary infection. A negative correlation was observed between PELOD score and mHLA-DR at P1 (r = -0.25, P = 0.46), at P2 (r = -0.425, P = 0.018) and delta mHLA-DR (r = -0.27, P = 0.41). The area under curve (95%CI) of mHLA-DR expression (ABC) at P2 for a cutoff of < 6631 was 0.966 (0.907, 1.0) to predict mortality in severe sepsis. CONCLUSIONS: mHLA-DR levels were significantly lower in children who succumbed than those who survived at both time points. mHLA-DR levels can be a useful biomarker to diagnose immune-paralysed state.

Longitudinal Echocardiographic Follow-Up of a Pediatric Multisystem Inflammatory Syndrome Cohort.

OBJECTIVE: Significant involvement of the cardiovascular system is known in multisystem inflammatory syndrome in children (MIS-C). This study aimed to examine the recovery of affected cardiovascular parameters over a medium-term follow-up. METHODS: A cohort of 69 children was studied prospectively. Assessments of left ventricular (LV) function and coronary artery abnormalities (CAA) were conducted at admission, 1.5 months, and 3 months. Coronavirus Disease 2019 (COVID-19) antibody titers were assessed at these three time points. Echocardiographic and antibody parameters (rising/decreasing) were analyzed for correlation. Outcomes were assessed using logistic regression. RESULTS: At admission, among the 78.2% of patients who were tested, 88.9% tested positive for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). A quarter of the patients had pericardial effusion, and half had valvulitis. Decreased ejection fraction, global circumferential strain (GCS), and global longitudinal strain (GLS) were seen in 54.4%, 68.6%, and 35.8% of patients, respectively. CAAs were observed in 27.78% of patients. Systolic dysfunction was significantly associated with older age. During follow-up, severe LV dysfunction normalized within 6-7 weeks, while mild to moderate dysfunction reached normalcy by two weeks. Both GCS and GLS reached normalcy within a median of two weeks. Diastolic parameters recovered by six weeks. Most small and moderate coronary aneurysms resolved, but a giant aneurysm in an infant remained large even after 15 months. Trends in antibodies and ejection fraction (EF) at three months were significantly correlated. Admission EF, GLS (at 6 weeks) and deceleration time (at 3 months) were significantly associated with intensive care unit (ICU) admission. The median segmental strain of the cohort remained low in certain segments at three months. CONCLUSION: Smaller CAAs resolve, whereas giant CAAs persist. EF and GLS are important predictors of Pediatric Intensive Care Unit (PICU) stay. The residual impairment of median segmental strain and persistent diastolic dysfunction at three months indicate the need for long-term follow-up.

Clinical Outcome and its Predictors in Children With Newly Diagnosed Immune Thrombocytopenia.

OBJECTIVE: To determine the predictors for chronic and/or persistent immune thrombocytopenia (ITP) among children with newly diagnosed ITP. METHODS: Ours was a mixed-design study (prospective: January 2020 to March 2022 and retrospective: January 2014 to December 2019), wherein we enrolled children, aged 1 month to 18 years presenting with newly diagnosed ITP. RESULTS: Of the 64 enrolled participants, 58 were followed up for atleast 1-year duration and 6 children were followed up for 3 to 12 months' duration. The median (IQR) age of the cohort was 8 (5, 11) years with a female preponderance (62.5%). Wet bleeding was seen in 56%; 6.25% developed intracranial bleeding. 67.2% (43/64) and 41.4% (24/58) children developed persistent and chronic ITP, respectively. Of the 34 children who achieved complete response at 12-months follow up, 21 (62%) achieved complete response by 3 months and the rest achieved complete response over the next 9 months. Development of overall response (complete or partial) at 3 and 12 months, was associated with a higher absolute lymphocyte count (ALC) at admission. The median ALC (×103/µL) at admission was 3.77 and 2.87 in children who had overall response and no response at 3 months, respectively (P = 0.03). The median ALC (×103/µL) at admission was 3.99 and 2.96 in children who had overall response and no response at 12 months, respectively (P = 0.04). Response rate was lesser in the treated group by approximately 10% compared to the non-treated group. CONCLUSION: The rate of chronicity and intracranial bleeding in our cohort is more than the reported rates in literature. Higher ALC was found to be associated with response.

Extensive perineal ecthyma gangrenosum in leukocyte adhesion deficiency type 1 associated with Staphylococcus hominis bacteremia.

Leukocyte adhesion deficiency (LAD), a disorder of neutrophil function, is characterized by a defect in leukocyte adhesion to the endothelium. Recurrent infections in the skin, soft tissue, gingiva, and lungs due to Staphylococcus aureus, Pseudomonas aeruginosa, and Klebsiella sp. are common in these patients. Ecthyma gangrenosum (EG) is an ulcer of skin and subcutaneous tissue with a black eschar and surrounding erythematous halo secondary to a bacterial infection. Here, we report an unusual presentation of LAD type-1 with extensive EG of perineum secondary to Staphylococcus hominis bacteremia treated successfully with combination of granulocyte transfusion and diversion colostomy.

Neutrophil-Lymphocyte Ratio for Predicting Coronary Artery Lesions in Children With Kawasaki Disease.

BACKGROUND: Coronary artery lesions (CAL) are a specific feature of Kawasaki disease (KD), and develop during the second week of illness. This study was conducted to determine whether Neutrophil: Lymphocyte Ratio (NLR), assessed between the fourth and sixth day of fever onset in children with KD, can predict coronary artery lesion (CAL) development. METHODS: In this review of hospital records, data of patients with KD admitted at our center between January, 2016 and January, 2020 was retrieved. The patients were divided into two groups based on the presence of CAL, and clinical characteristics of patients were compared between the two groups. RESULTS: Out of the 79 patients enrolled, CAL was found in 40 (50.6%) patients and intravenous immunoglobulin (IVIg) resistance was seen in 13 (16.5%) patients. Multivariate logistic regression revealed NLR as an independent predictor of CAL [OR (95% CI) 2.0 (1.2-3.1); P<0.001], and erythrocyte sedimentation rate (ESR) [OR (95% CI) 1.03 (1.001-1.1) P=0.04], as an independent predictor of IVIg resistance. NLR ≥2.08 was 82% sensitive and 80% specific in predicting CAL. ESR ≥88 mm/h was 85% sensitive and 64% specific in predicting IVIg resistance. CONCLUSIONS: NLR is an independent predictor of CAL in KD. NLR ³2.08 done between the fourth and sixth day of fever onset may identify children with KD at risk of CAL.

Serum Ferritin for Predicting Outcome in Children With Severe Sepsis in the Pediatric Intensive Care Unit.

OBJECTIVES: To evaluate the prognostic ability of serum ferritin when estimated within 5 days of onset of illness in children with severe sepsis admitted to a pediatric intensive care unit. METHODS: This observational study enrolled children aged 1 month to 12 years with severe sepsis. Hemoglobin, serum ferritin and C-reactive protein levels were measured within five days of illness. Final outcomes were recorded in all enrolled children. RESULTS: 70 children with median (IQR) age of 27 (8,108) months were enrolled during the study period (July, 2019 to August, 2021). 28 (40%) of these had poor outcome (non-survival). The median (IQR) level of serum ferritin was 1369 (558-5607) ng/mL in non-survivors and 282 (129-680) ng/mL in survivors (P<0.05). A significant correlation was seen between serum ferritin and Pediatric Risk of Mortality III (PRISM III) score (r=0.364 P=0.002) and pediatric Sequential Organ Failure Assessment (pSOFA) score (r=0.246 P=0.04) at 48 hours of admission. 54 (77.1%) children were anemic. Serum ferritin levels in children with anemia also had a good predictive ability for poor outcome [AUC: 0.764, 95% CI: 0.634, 0.894]. CONCLUSIONS: Serum ferritin levels, within five days of onset of illness, predicted poor outcome in critically ill children with severe sepsis and in children with microcytic anemia.

Paradoxical upgrading reaction following treatment of disseminated tuberculosis-associated haemophagocytic lymphohistiocytosis in an infant without HIV: a case report and review of the literature.

Tuberculosis-associated haemophagocytic lymphohistiocytosis (HLH) is rare in paediatrics and can be fatal if not recognised and treated on time. A 3-month-old infant with tuberculosis and HLH is described. He was successfully treated with anti-tuberculous therapy (ATT) which comprised isoniazid, rifampicin, pyrazinamide, ethambutol, streptomycin and dexamethasone (10 mg/m2/day). On Day 28 of therapy, he developed a paradoxical upgrading reaction to ATT for which he was again treated with (oral) corticosteroids for 4 weeks. He recovered successfully and is now completely well and asymptomatic. To the best of our knowledge, this is the first case of a child having a paradoxical upgrading reaction following treatment for TB-HLH.Abbreviations ATT: anti-tuberculous therapy; CB-NAAT: cartridge-based nucleic acid amplification test; CECT: contrast-enhanced computed tomography; HLH: haemophagocytic lymphohistiocytosis; NK: natural killer, PUR: paradoxical upgrading reaction; sHLH: secondary HLH.

Congenital primary primitive neuroectodermal tumor of the orbit in a newborn.

INTRODUCTION: Primitive neuroectodermal tumors arise from the progenitor cells of the neural crest, in the central nervous system or other peripheral locations. CASE PRESENTATION: We report a rare case of a congenital malignant tumor, diagnosed as a primary orbital primitive neuroectodermal tumor on histopathological examination. CONCLUSION: Multidisciplinary management with adjuvant chemotherapy needed for the management of these cases.