Misdiagnosed metabolic bone abnormality: a case report.

BACKGROUND: Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed. CASE PRESENTATION: A 5-year and 9-month-old otherwise healthy Yemeni girl presented to her Yemen physician for evaluation of inward bending of her right knee and short stature. After extensive medical testing, she was given a diagnosis of hypophosphatemic rickets and growth hormone deficiency and started on treatment. Despite appropriate treatment, however, her condition continued to progress, prompting her family to pursue additional workup including genetic testing outside of Yemen. Genetic testing ultimately revealed a variation of unknown significance associated with amelogenesis imperfecta. CONCLUSIONS: Hypophosphatemic rickets secondary to renal tubular acidosis was the working diagnosis. However, the patient's condition did not improve. Further genetic testing revealed a variation of unknown significance associated with amelogenesis imperfecta. We aim to present this case, provide an overview of the causes, and diagnostic metabolic bone health evaluation.

Clinical and Laboratory Features of PCR-Confirmed and Clinically Suspected COVID-19 Pediatric Patients: A Single Hospital-Based Experience During the First COVID-19 Wave in the United Arab Emirates.

Objective: This study investigated clinical and laboratory differences between confirmed (RT-PCR-positive) and clinically suspected (RT-PCR-negative) COVID-19 pediatric patients, and explored factors associated with disease severity at presentation and duration of hospitalization. Methods: Medical charts of COVID-19-confirmed and clinically suspected pediatric patients admitted to a tertiary hospital in Abu Dhabi were reviewed. Sociodemographic information and clinical and laboratory outcomes were retrieved and analyzed. Results: Between 1 April to 30 June, 2020, 173 patients (mean age: 3.6 ± SD 3.2 years) presented with respiratory symptoms. Of them, 18.0% had confirmed contact with COVID-19 cases, 66.5% had symptoms for ≤3 days, and 86.7% were with moderate to severe disease. Twenty-eight (16.1%) patients tested positive while the rest (83.8%) tested negative in RT-PCR. COVID-19-confirmed and clinically suspected patients were statistically similar (p > 0.05) in all sociodemographic data, disease severity, and vital signs except residence status (89.3% vs. 58.6% were residents, respectively, p = 0.002) and contact with confirmed COVID-19 cases (82.1% vs. 5.5%, respectively, p < 0.001). Fever (100 and 91.0%) and cough (100 and 95.9%) were the most common symptoms in both confirmed and clinically suspected COVID-19 patients. All patients were statistically comparable in mean white blood cell and platelet counts and hemoglobin concentration, except in mean concentration of neutrophils (higher in clinically suspected, p = 0.019). C-reactive protein was two times higher in clinically suspected compared to confirmed patients (p = 0.043). Lymphocyte (OR: 1.31, p < 0.001), LDH (OR: 1.01, p = 0.001), D-dimer (OR: 1.92, p < 0.001), and ferritin levels after 24-36 h (OR: 9.25, p < 0.05), and SGPT (OR: 1.04, p < 0.05) were all associated with disease severity. Elevated ferritin (>300 µg/L) after 24-36 h was the only correlated factor with disease severity (aOR: 17.38, p < 0.05). Confirmed compared with clinically suspected patients (aOR: 4.00, 95% CI: 2.92-5.10) and children with moderate compared with mild disease (aOR: 5.87, 95% CI: 1.08-32.06) had longer hospitalization. Conclusion: In pediatric patients with negative RT-PCR, COVID-19 is still suspected based on clinical symptoms and epidemiological data. A tentative diagnosis can be made based on a thorough examination, and proper medical management can be initiated promptly.

Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children.

Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type. Early sex assignment and early diagnosis of different genetic variations with a proper technique are important to reduce mortality and morbidity. Proper early sex identification reduces emotional, social, and psychological stress. Aim: Detection of a spectrum of aberrations in the CYP21A2 gene, including copy number variations, gene conversion, chimeric genes, and point variations. Methods: The CYP21A2 gene was screened using MLPA assay in 112 unrelated Egyptian children with 21-OHD CAH (33 males and 79 females). Results: In the studied group, 79.5% were diagnosed within the first month of life. 46.8% of the genetic females were misdiagnosed as males. Among the copy number variation results, large deletions in 15.4% and three types of chimeric genes in 9% (CH-1, CH-7, and CAH-X CH-1) were detected. Regarding gene dosage, one copy of CYP21A2 was found in 5 cases (4.5%), three copies were detected in 7 cases (6.3%), and one case (0.9%) showed four copies. Eight common genetic variants were identified, I2G, large deletions, large gene conversion (LGC), I172N, F306 + T, -113 SNP, 8bp Del, and exon 6 cluster (V237E and M239K) with an allelic frequency of 32.62%, 15.45%, 7.30%, 3.00%, 2.58%, 2.15%, 0.86%, and 0.86%, respectively. Conclusion: High prevalence of copy number variations highlights the added value of using MLPA in routine laboratory diagnosis of CAH patients.