Edward syndrome, clinically known as trisomy 18 syndrome, is an autosomal chromosomal disorder characterized by an extra copy of chromosome 18. It belongs to the category of autosomal trisomy syndromes and is the second most common, with trisomy 21 being the only more frequent occurrence. In the context of this research, we present a case study focusing on a 3-month-old female infant admitted to the emergency department due to a complex array of symptoms. The primary clinical manifestations included a persistent cough, cold, and fever lasting for eight consecutive days. Comprehensive clinical evaluations, encompassing radiological and hematological investigations, confirmed the diagnosis of bronchiolitis along with viral bronchopneumonia. Chest X-rays revealed bilateral patchy opacities and diffuse haziness, primarily concentrated in the right hemithorax. Beyond respiratory issues, the infant displayed a range of distinctive physical attributes, including low-set ears, micrognathia, cranial anomalies, flattened nasal bridge, widely spaced nipples, overlapping fingers, abdominal distention, rocker-bottom feet, and recurring limb deformities known as recurvatum. Attempts to correct the limb deformity with a hip spica cast over an extended month-long period proved unsuccessful. Chronic villus sampling (CVS) ultimately confirmed the presence of Edward Syndrome (Trisomy 18), linked to the extra chromosome 18, leading to diverse physiological and developmental abnormalities. This case underscores the critical importance of timely and precise diagnosis, highlighting the challenges involved in addressing complex medical conditions marked by multifaceted clinical phenotypes.

High prevalence of allergic disorders in Indian pediatric patients demands early diagnosis of allergens so that appropriate allergen avoidance methods, pharmacotherapy or immunotherapy can be provided in time to avoid the worsening of symptoms due to triggers. In this context, identification of the most prevalent aeroallergens in a given area is critical for diagnosis and treatment of various allergic reactions especially in case of rhino-conjunctivitis and asthma. The specific diagnosis of IgE mediated allergy is usually based on the correlation between the clinical history and signs and symptoms endorsed by the diagnostic tests. Skin prick tests are the gold standard however has some limitation. In view of this, the aim of this study was to assess the significance of ImmunoCAP assay for assessing serum specific IgE levels, available in India, against skin prick test by standardized allergens, for the diagnosis of allergic sensitization. A single-center observational study was conducted at tertiary care corporate hospitals in North India from 2017-2020. Patients with self-reported allergic symptoms or whose symptoms were suspected for allergies were tested for the type of sensitization using skin prick test (SPT) after their consents followed by ImmunoCAP based quantification of serum specific IgE levels. A total of 256 (95.9%) pediatric patients were analyzed in the study and were analysed. The patients were most commonly (30% patients) sensitized to D. farinae (173 [67.6%]), D. pteronyssinus (174 [68.0%]), Acarus siro (93 [36.3%]), Lepidoglyphus destructor (96 [37.5%]), Plantago lanceolata (Engl.). The ROC curve of Bermuda grass shows that the AUC of serum-specific IgE is larger than that of SPT (1.000 / 0.881). The receiver operating characteristic (ROC) analysis of serum-specific IgE reference method resulted in the largest AUC of all the allergens taken into consideration (0.711 / 1.000) compared to those of SPT (0.589 / 1.000). These results revealed that serum-specific IgE is more reliable method over prick test for accessing the sensitivity of patient for various allergens. This study may be helpful in performing early diagnosis of allergies as well as in taking appropriate preventive measures for managing life threatening allergic reactions