Turkish J Pediatr
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Fusobacterium necrophorum is an anaerobic gram-negative bacterium that can present as a painful sore throat. Although uncommon, clinicians need to be aware of this condition as this can present a diagnostic challenge, with the initial symptoms being non-specific followed by a fulminant course. We present the case of a previously healthy girl who presented with a sore throat but later developed a full-fledged picture of Lemierre's disease. She developed bilateral pleural effusion and internal jugular venous thrombosis and needed intensive care management, a prolonged course of intravenous antibiotics and anticoagulation therapy.
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Case Reports
A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.
Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with seizures, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations. The cause of MWS is a de novo mutation in the ZEB2 gene. ⋯ The investigation identified a heterozygous complex rearrangement in exon 8 of ZEB2, specifically a 48-nucleotide deletion and a 44-nucleotide insertion that caused a frameshift. MWS is a relatively newly identified disorder, and even MWS patients without Hirschsprung disease can be diagnosed easily based on clinical findings alone.
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Review Case Reports
Takayasu arteritis in a 4-year-old girl: case report and brief overview of the pediatric literature.
Takayasu arteritis (TA) is a large vessel vasculitis that involves the aorta, its major branches and pulmonary arteries. Diagnosis of TA during childhood remains challenging due to the non-specific symptoms. We report a four-year-old girl presenting with fever, fatigue, weight loss, and elbow pain who was later diagnosed as childhood TA. ⋯ Computed tomography angiography showed luminal narrowing and wall thickening in ascending aorta, brachiocephalic, left common carotid and left vertebral arteries and descending aorta. Oral corticosteroid (prednisone, 2 mg/kg/day) was instituted, later followed by oral methotrexate (12.5 mg/m2/week). TA is rare in children; however, childhood TA must be considered in children who present with non-specific systemic symptoms, hypertension and increased acute phase reactants.