Presentations and outcomes of familial hemophagocytic lymphohistiocytosis in the pediatric intensive care units (PICUs).

Objectives: We aimed to describe Familial Hemophagocytic Lymphohistiocytosis (F-HLH) patients' clinical features, intensive care courses, and outcomes. Methods: Multi-center retrospective cohort study of pediatric patients diagnosed with F-HLH from 2015 to 2020 in five tertiary centers in Saudi Arabia. Patients were classified as F-HLH based on their genetic confirmation of known mutation or on their clinical criteria, which include a constellation of abnormalities, early disease onset, recurrent HLH in the absence of other causes, or a family history of HLH. Results: Fifty-eight patients (28 male, 30 female), with a mean age of 21.0 ± 33.9 months, were included. The most common principal diagnosis was hematological or immune dysfunction (39.7%), followed by cardiovascular dysfunction in 13 (22.4%) patients. Fever was the most common clinical presentation in 27.6%, followed by convulsions (13.8%) and bleeding (13.8%). There were 20 patients (34.5%) who had splenomegaly, and more than 70% of patients had hyperferritinemia >500 mg/dl, hypertriglyceridemia >150 mg/dl and hemophagocytosis in bone marrow biopsy. Compared to deceased patients 18 (31%), survivors had significantly lower PT (p = 041), bilirubin level of <34.2 mmol/L (p = 0.042), higher serum triglyceride level (p = 0.036), and lesser bleeding within the initial 6 h of admission (p = 0.004). Risk factors for mortality included requirements of higher levels of hemodynamic (61.1% vs. 17.5%, p = 0.001) and respiratory (88.9% vs. 37.5%, p < 0.001) support, and positive fungal cultures (p = 0.046). Conclusions: Familial HLH still represents a challenge in the pediatric critical care setting. Earlier diagnosis and prompt initiation of appropriate treatment could improve F-HLH survival.

What Do Saudi Children Ingest?: A 10-Year Retrospective Analysis of Ingested Foreign Bodies From a Tertiary Care Center.

OBJECTIVES: Few studies investigated the correlation between foreign body (FB) ingestion and occurrence of complications. The local literature is limited to case reports and small case series on esophageal FBs. We conducted this study to identify the high-risk factors predisposing to complications among Saudi children ingesting FBs. METHODS: The medical records of 436 children (boys, 59.6%; mean age, 4.4 ± 2.7 years) presenting to the emergency department (ED) between 2007 and 2016 were retrospectively reviewed. Relative risk analysis of clinical variables was performed between 2 groups: The first group constituted children without FB-related complications (n = 389), and the second group included those with major complications (n = 14). Major complication was defined as any event associated with significant morbidity such as esophageal stricture, esophageal perforation, esophageal fistula, and intestinal perforation or fistula formation. RESULTS: Most of the 436 cases presented between ages 2 and 4 years (35.1%). Coin was the most commonly ingested FB (22.9%) followed by button battery (19.5%). Most of the ingested FBs passed spontaneously without intervention (69%). Upper endoscopy was performed in 121 cases (27.7%). By multivariate analysis, the variables that were significantly associated with major complications included the following: very young age group (0-2 years; odds ratio [OR], 11.5), button battery (OR, 4), FB impacted at upper esophagus (OR, 8.7), and longer time duration to visit the ED (OR, 14.7). CONCLUSION: Button battery impaction at upper esophagus in very young children and delayed presentation to the ED were the most significant risk factors of FB-related complications.

Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension.

BACKGROUND The pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect (PDAC) syndrome is a rare medical condition presumably of autosomal recessive way of inheritance with only a few reported cases. Recessive mutations in the STRA6 and both recessive and dominant mutations in RARB gene have been identified as the cause of anophthalmia/microphthalmia and other abnormalities included in the PDAC spectrum. However, those mutations have not been found in all PDAC syndrome cases reviewed from the literature. CASE REPORT We report a case of a full-term living male infant with pulmonary hypoplasia, left diaphragmatic eventration, bilateral microphthalmia, congenital cardiac defects, and severe pulmonary hypertension. CONCLUSIONS The main feature in the reported cases was anophthalmia/microphthalmia. Therefore, screening for the other associated congenital anomalies is highly suggested. Mutations in STRA6 and RARB genes are commonly encountered in this spectrum. However, whole exome sequencing of suspected cases and their parents is recommended to detect possible de novo mutations. Further reports are needed to identify risk factors and prognosis of this rare syndrome.