Unusual onset of Graves' disease associated with thymic hyperplasia in a 5-year-old girl with congenital bilateral clinical anophthalmia: diagnostic and therapeutic challenges.

OBJECTIVES: Graves' disease (GD) is a rare auto-immune disorder in pediatric population. The association between GD and thymic hyperplasia was rarely reported in children. Diagnosis and management of GD are challenging in children. CASE PRESENTATION: This report presents the case of a 5-year-old girl with a personal history of asthma and congenital bilateral isolated clinical anophthalmia who presented with acute congestive heart failure, sinus tachycardia and atypical signs of orbitopathy with edema and erythema of the lower right eyelid and excessive tearing. The diagnosis of GD was based on detecting a suppression of serum TSH level and the presence of high titers of TRAbs. Relapse occurred after 10 months of antithyroid drugs with chief complaints of palpitations, dyspnea and dysphagia. Computed tomography showed heterogeneous anterior mediastinal mass with no invasion into the surrounding tissue. The marked shrinkage of the mass after radioiodine therapy supported the diagnosis of thymic hyperplasia associated with GD. CONCLUSIONS: The presence of clinical anophthalmia may be a confusing factor for the diagnosis of Graves' ophthalmopathy. Recognition of the association between GD and thymic hyperplasia would avoid invasive diagnostic procedures and unnecessary surgical resection. Radioiodine therapy may be used in young children with repeated relapses of GD.

Case based self-directed learning tool versus clinical reasoning learning sessions.

INTRODUCTION: Clinical reasoning (CR) is a core skill taught by medical schools. Clinical reasoning learning sessions (CRL) during hospital internship of externals in pediatrics was recently introduced in Faculty of Medicine of Tunis. AIM: To compare a case based self-directed learning (CBSDL) tool with CRL sessions in two groups of the students assigned to pediatric internship. METHODS: We conducted a randomized trial with draw of two groups: CRL group (students who attended the CRL session) and SDL group (students who received the CBSDL tool). Main judgment criterion was the final score obtained by the student at the test of sequential management problem (SMP). A docimological analysis of SMP test was performed. RESULTS: The mean final score in CRL group and SDL group was 12.03±1.44 and 14.05±1.64, respectively (p <0.001). The scores obtained at the different steps of SMP test were significantly higher in SDL group. The difficulty p and discrimination D indices of the SPM test were 0.65 and 0.21, respectively. The agreement between the two correctors was very good since the intra-class correlation coefficient was 0.977. We analyzed the reliability of the test by measuring Cronbach's α coefficient which was 0.955. CONCLUSION: CBSDL tool has allowed students to learn hypothetico-deductive reasoning. However, this tool must be supplemented by direct supervision at hospital internship to support CR.

C-reactive protein in the early diagnosis of pneumonia complicating severe blunt chest trauma.

INTRODUCTION: The early diagnosis of pneumonia following severe blunt chest trauma (SBCT) allows the early prescription of antibiotics and initiation of adequate supportive care. AIM: To assess the usefulness of C-reactive protein (CRP) in the early diagnosis of pneumonia complicating SBCT. METHODS: We conducted a prospective study of patients admitted to trauma intensive care unit for SBCT between January 2020 and February 2023. Patients were divided into two groups according to whether or not they developed pneumonia. The CRP levels were monitored daily. RESULTS: One hundred sixty-seven patients were included. Pneumonia occurred in 40.1% of patients within a median of 5 days. We found statistically significant difference in mean CRP levels between groups from day 3 to day 9 following trauma. The increase in CRP level on the 4th day from a value greater than or equal to 192 mg/L was a marker of early diagnosis of pneumonia (sensitivity 80.6%; specificity 80.8%). CONCLUSION: Daily CRP measurement from the 3rd day following SBCT may be useful for early diagnosis of pneumonia complicating SBCT.

[Diagnosis and management of cow's protein milk allergy in infant]. / Diagnostic et prise en charge de l'allergie aux protéines de lait de vache chez le nourrison.

BACKGROUND: Cow's milk protein allergy (CMPA) can be responsible of a variety of symptoms and can be caused by IgE or non-IgEmediated reactions. The remaining questions concern the diagnosis (what are the most suggestive clinical manifestations, the laboratory evaluations which play a supporting role, and the management of CMPA in breast fed infants and formula-fed infants. METHODS: Review of the pub med, science direct, Cochrane library, using the key words cow's milk protein allergy, guideline, and child. Evidence was levelled A, B, C. RESULTS: No symptom is pathognomonic. A thorough history and careful clinical examination are necessary to suspect the disease. Skin prick tests, and serum specific IgE are only indicative of sensitivation to CMP. A double-blind placebo-controlled challenge is considered the gold standard in diagnosis, but in practice only an open challenge is performed. The patient with suspected pathology will follow a cow's milk free diet for 2-4 weeks. Formula-fed infants get an extensively hydrolyzed formula .If the allergy is present, clinical manifestations will disappear. If symptoms do not improve, an amino acid based formula should be considered. In severe Cow's milk protein allergy with life-threatening symptoms, an amino-acid formula is recommended. The infant should be maintained on an elimination diet until the infant is between 9-12 months or at least for 6 months. The overall natural evolution of the disease is favorable with most patients achieving tolerance to milk by the age of five years. CONCLUSION: The importance of defined diagnostic criteria needs to be emphasized. It precludes infants from an unnecessary diet and avoids delay in diagnosis, which can lead to malnutrition.

Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.

Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome.

Predictive score for positive upper endoscopies outcomes in children with upper gastrointestinal bleeding.

BACKGROUND: Upper gastrointestinal bleeding (UGIB) is a common pediatric emergency. Esophago-gastro-duodenoscopy (EGD) is the first line diagnostic procedure to identify the source of bleeding. However etiology of UGIB remains unknown in 20% of cases. Furthermore, emergency endoscopy is unavailable in many hospitals in our country. AIMS: Identify clinical predictors of positive upper endoscopy outcomes and develop a clinical prediction rule from these parameters. METHODS: Retrospective study of EGDs performed in children with first episode of UGIB, in the endoscopic unit of Children's Hospital of Tunis, during a period of six years. Statistical analysis used SPSS20. Univariate analysis was performed and multivariate logistic regression was then modelled to derive a clinical prediction rule. RESULTS: We collected 655 endoscopies (23.2% normal, 76.8% pathological). We found that time to EGD within 24 hours from the onset of bleeding (p=0.027; Adj OR: 3.30 [1.14 - 9.53]), rebleeding (p=0.009; Adj OR: 6.01 [1.57 - 23.02]), positive gastric lavage outcome (p=0.001; Adj OR: 4.79 [1.95 - 11.79]) and non steroidal anti-inflammatory drugs intake (p=0.035; Adj OR: 5.66 [1.13 - 28.31]) were predictors of positive upper endoscopy outcomes. By assigning each factor, the adjusted odds ratio (Adj OR), we developed a score with four items, ranging from 4 to 20. Using the receiver operating characteristic (ROC) curve the best cut off ≥ 9 was defined (sensitivity 88.2%, specificity 60.6%, positive predictive value 92.7% and negative predictive value 47.6%). The score discriminated well with a ROC curve area of 0.837 (95% confidence interval [0.769 - 0.905]). CONCLUSIONS: This clinical prediction rule is a simple measure that may identify children who needed emergency endoscopy. A prospective study is required to validate our results and evaluate other clinical features that were insufficient for this analysis.