RESUMO
In adults, Cushing's syndrome (CS) caused by tumours that produce adrenocorticotropic hormone (ACTH) outside of the pituitary gland is quite prevalent. However, it is uncommon in children and teenagers. Ectopic ACTH syndrome (EAS) is a rare occurrence in young children, accounting for less than 1% of cases. Nevertheless, when it does occur, it tends to be a severe condition due to the profound hypercortisolism that can occur independently of the tumour. Consequently, EAS should be regarded as a critical endocrine emergency, necessitating prompt action in terms of diagnostic procedures and therapeutic interventions. A 14-year-old White female from the United Kingdom (UK) presented with a two-week history of hands and feet swelling, accompanied by a non-itchy rash on the face, back, and chest for one week. Initial investigations revealed hypokalemic alkalosis, hyperglycaemia, elevated serum and 24-hour urinary cortisol, and high ACTH level. Further investigations confirmed EAS, and to find out the primary tumour location, a contrast-enhanced thoracic CT scan was done and identified a 5x3 cm mass with enhanced thymic shadow. Increased radioactivity uptake in the left upper chest along with widespread GAD-avid metastatic disease unveiled by Gallium-DOTA-TATE PET scan. An abdominal MRI, detecting multiple liver deposits, prompted a liver biopsy, revealing a malignant tumour with neuroendocrine differentiation. The patient was diagnosed with EAS with a primary neuroendocrine tumour of the thymus and metastasis. This case underscores the significance of considering EAS in patients with a diagnosis of CS, especially in young individuals with no known risk factors.
RESUMO
BACKGROUND: Upper gastrointestinal bleeding is a life threatening condition in children. Common sources of upper gastrointestinal bleeding in children include mucosal lesions and variceal hemorrhage. Helicobacter pylori (H. pylori) is a Gram negative spiral-shaped bacterium that is found in the gastric mucous layer or adherent to the epithelial lining of the stomach. It causes more than 90% of duodenal ulcers and up to 70-80% of gastric ulcers. The relationship between H. pylori infection and upper GIT bleeding in children is still un-clear. This study aimed to estimate the incidence of H. pylori infection in children presented with upper GIT bleeding and correlation between H. pylori infection and endoscopic findings of the cause of bleeding. METHODS: The study included 70 children presented with upper GIT bleeding indicated for upper gastrointestinal endoscopy admitted in pediatric department, Minia University Hospital, Egypt during the period from February 2010 to December 2012. Thirty healthy children were included as a control group with age and sex matched. After medical history taking and physical examination all children were exposed for laboratory investigations (CBC, prothrombin time and concentration, liver function tests, hepatitis viral markers, blood urea and serum creatinine and Helicobacter pylori stool antigen test). Upper endoscopy was done for patients only. Patients were classified into variceal and non variceal groups according to upper endoscopy. RESULTS: Helico-pylori infection was significantly higher in children with non-variceal bleeding than controls (P = 0.02) and children with variceal bleeding (P = 0.03) with no significant difference between children with variceal bleeding and controls (P = 0.9). Both weights and BMIs centile were significantly lower in variceal and non-variceal groups than controls (P = 0.01 & 0.001 and 0.01 & 0.001 respectively). AST, ALT and direct bilirubin levels were significantly higher in variceal group than controls (P = 0.001, 0.004 & 0.001 respectively). Prothrombin concentration and albumin levels were significantly lower in variceal group than controls (P = 0.001 & 0.01 respectively). Hemoglobin levels were significantly lower in variceal and non-variceal groups than controls (P = 0.01 & 0.001 respectively). No significant differences were present as regards age, sex, height or platelets count between cases (variceal and non-variceal) and controls. CONCLUSIONS: H. pylori infection is significantly higher in children with non-variceal bleeding than controls. No significant difference between children with variceal bleeding and controls. Triad of increased ALT, decreased albumin levels and negative H. pylori infection could be a significant triad in predicting variceal bleeding as a cause of upper GIT bleeding in children.