RESUMEN
Congenital syphilis is a forgotten disease, and often misdiagnosed. It can present with a myriad of clinical features, mimicking various other conditions therefore posing difficulty in diagnosis. Patient may be born preterm with low birth weight, failure to thrive with hemolytic anemia, thrombocytopenia, and leukocytosis. It is a treatable condition, commonly treated with penicillin or ceftriaxone.
RESUMEN
INTRODUCTION: Familial adenomatous polyposis (FAP) is an inherited colorectal cancer syndrome characterized by several adenomatous polyps of the gastrointestinal mucosa with a universal risk of colorectal cancer in a lifetime. FAP is usually asymptomatic in the first decade of life. CASE PRESENTATION: We report a case of a 13-year-old girl diagnosed with FAP who presented in our center with symptoms of hematochezia along with a positive history of the untimely demise of her father and elder sister with similar symptoms. DISCUSSION: FAP is an autosomal dominant disease affecting both male and female equally with variable penetrance. Diagnosis is made by finding hundreds to thousands of adenomatous polyps in the colon and rectum, and molecular analysis of the APC gene which forms the definitive diagnosis. Prophylactic laparoscopic total proctocolectomy with ileorectal anastomosis is a safe and feasible surgical option with a low risk of complications among adolescents. An endoscopic/colonoscopic procedure is recommended every 6 to 12 months after surgery to assess the anastomosis site, pouch, and residual rectum. CONCLUSION: FAP, a rare disease entity in adolescents should be managed by appropriate diagnostic procedures, early prophylactic surgery, and regular lifelong follow-up.