A 10 year old child presents with fever since 24 hours. History reveals 3 episodes of chest infection and passage of bulky, foul smelling stools. The most probable diagnosis is-
Ans. is 'a' i.e., Cystic fibrosis * Recurrent chest infection in a child with evidence of exocrine pancreatic insufficiency (bulky, foul smelling stool) suggest a diagnosis of cystic fibrosis.* Most patients with CF present in childhood. Approx 18% of patients present within the first 24 hr of life with gastrointestinal obstruction, termed Meconium ileus.* Other systems dysfunctions are not present at birth, they may manifest within the first year or two of life including respiratory tract system.1)Lungs and sinus disease # Sinusitis# Pulmonary hypertension - can cause heart failure # Bronchiactasis# Allergic bronchopulmonary aspergillosis # Nasal polyps# Lower respiratory tract infection # Chronic lung disease 2)GIT, Liver and pancreas # Meconium ileus# Rectal prolapse # Malabsorption# Pancreatitis # Constipation# Intussusception # Meconium peritonitis# Bile duct obstruction and biliary cirrhosis3)Endocrine and growth # Diabetes# Osteoporosis# Poor growth4)Infertility # In men due to absence of vas deference# In women due to thick cervical mucus.
Cystic Fibrosis
Maple Syrup urine Disease
Bilirubin Congugation Defect
Criggler Najar Syndrome
Genetics And Genetic Disorders