Clinical characteristics & severity profile of children with COVID-19 during the second wave pandemic: An experience from tertiary care hospital in Mumbai.

This retrospective observational study was aimed at defining the demographic and clinical characteristics as well as severity profile of COVID-19 disease in children admitted to dedicated COVID-19 tertiary care hospital in Mumbai, India, during the second wave. COVID-19 infection detected in children (1 month-12 years) by the rapid antigen test or reverse transcriptase polymerase chain reaction or TRUENAT from March 1 to July 31, 2021 on throat/nasopharyngeal samples were enrolled and their clinical features and outcomes were studied. During the study period, 77 children with COVID-19 infection were admitted, of whom two-third (59.7%) were <5 yr old. The common presenting symptom was fever (77%), followed by respiratory distress. Comorbidities were noted in 34 (44.2%) children. Most of the patients belonged to the mild severity category (41.55%). While 25.97 per cent of patients presented in severe category and 19.48 per cent were asymptomatic. Admission to intensive care was needed in 20 (25.9%) patients, with 13 patients needing invasive ventilation. Nine patients succumbed while 68 were discharged. The results might help understand the course, severity profile and outcomes of the second wave of the COVID-19 pandemic in the paediatric population.

A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by a varying degree of skin hyperextensibility and joint hypermobility. EDS is classified into 13 subtypes according to the most recent classification. These subtypes are clinically and genetically heterogenous. The spondylodysplastic subvariety of EDS (spEDS) is caused by homozygous mutations in B4GALT7, B3GALT6 and SLC39A13. To date, 13 individuals with molecularly diagnosed SLC39A13-related spEDS have been reported. The spEDS caused by biallelic pathogenic SLC39A13 variants are characterized by short stature, protuberant eyes with bluish sclera, finely wrinkled palms, hypermobile joints, hyperextensible skin and characteristic radiological findings. Herein, we report a case of 7-year-old-female child with spEDS associated with novel homozygous (pathogenic/likely pathogenic) missense variation of the SLC39A13 gene.

Tuberculous Adrenal Abscess Presenting as Adrenal Insufficiency in a 4-Year-Old Boy.

We describe the case of a 4.8-year-old boy who presented with adrenal crisis. The advent of symptoms of adrenal insufficiency in the patient was at around 2 years of age. Congenital causes of adrenal insufficiency were considered over acquired etiologies owing to early onset of symptoms. However, on evaluation, he was found to have left adrenal abscess of tuberculous etiology. The aspirate culture grew multidrug-resistant Mycobacterium tuberculosis complex. He was initiated on glucocorticoid and mineralocorticoid replacement, along with second-line antitubercular therapy. Unique features of our case were early presentation, primary adrenal TB causing adrenal insufficiency, unilateral involvement with adrenal abscess localization, no identifiable extra-adrenal site of tubercular dissemination and resistance to first-line TB drugs.