Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene. Clinically, the disorder is variable. The most common characteristics are developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease. Herein, we report 6 Saudi patients with multiple sulfatase deficiency caused by a novel homozygous missense mutation in the SUMF1 gene (NM_182760.3; c.785A>G [p.Gln262Arg]). The patients are 2 females and 4 males between 5 and 13 years of age, with an age of onset of 1 to 3 years. All patients are consanguineous and suffer from developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease. This cohort differs from previous cohorts because of the absence of organomegaly and skeletal abnormalities.
Background The coronavirus disease 2019 pandemic has affected millions of people since its outbreak in December 2019. Limited data exist on otolaryngology manifestations of COVID-19 in pediatrics. This study aims to discuss the clinical features of COVID-19 in pediatrics, with an emphasis on otolaryngology manifestations. Methods The study included 660 COVID-19 laboratory-confirmed positive pediatric patients (aged 3–15 years) diagnosed at King Abdullah Specialist Children Hospital, Riyadh, Saudi Arabia. Data were retrospectively retrieved from January to July 2020 from electronic medical records and included patients' epidemiological and clinical features. Patients were then followed-up via phone calls to document any symptoms encountered after the first visit. Patients were categorized into three main groups according to age (3-6 years, 7-10 years, 11-15 years). Results Nearly half of the patients (43.6%) had asymptomatic infections. Fever and cough were the most commonly reported manifestations accounting for 39.2% and 19.8%, respectively. The most frequently reported otolaryngology symptoms were sore throat (17.3%) and rhinorrhea (14.4%). Moreover, 10.4% and 13.1% of children aged 7-15 years old experienced smell and taste disturbances, respectively. Older children (11-15 years) were more likely to report taste disturbances when compared to the younger children (17.2% vs 9.8%, p-value 0.02). Children aged between 3 to 6 years had significantly higher rates of admission (13.7%) and mortality (0.9%) when compared to the older groups (p-value 0.00). Conclusion COVID-19 in pediatrics has a milder disease course and a better prognosis than adults. Multiple otolaryngology symptoms were reported in pediatric patients with COVID-19, which can help identify the suspected cases before the test result.
Pyogenic granulomas are benign, typically painless, vascular tumors of the skin and mucosal surface. Recently the term ‘lobular capillary hemangioma’ has been introduced to describe the histological appearance more accurately. Major locations for pyogenic granuloma are in the head and neck region, but larynx localization is rare. In this case report, we present a case of a 36-year-old male with lobular capillary hemangioma of the larynx and discuss the related literature.
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