ABSTRACT
Introduction: Congenital insensitivity to pain (CIP) is a rare condition where individuals are born with an inability to perceive pain. This can lead to various complications in the skin, skeletal system, and other bodily systems. Chronic osteomyelitis is one of the possible manifestations of CIP, which can be difficult to diagnose and treat due to the lack of pain as a diagnostic criterion. Presentation: A 5-year-old boy with CIP developed chronic osteomyelitis in his right leg, presented with fever, claudication, swelling, and local heat for 2 months. He had a history of CIP since birth, diagnosed at 18 months of age. He also had a family history of CIP. He had previously suffered a shoulder fracture and had taken asthma medication for 1 year. He had experienced tonsillitis 2 months ago. On examination, he had hepatomegaly, enlarged lymph nodes in the groin, and a minor swelling on the right knee. He had an audible snapping sound during knee flexion. Blood tests showed increased inflammatory markers. Imaging studies confirmed presence of osteomyelitis, and bone biopsy revealed infection with Staphylococcus aureus. Treatment included vancomycin and cefotaxime. Clinical discussion: Genetic factors behind CIP were discussed, highlighting challenges in diagnosis. Manifestations of CIP, diverse and age-related, include orthopaedic issues, ophthalmological effects, and thermoregulation disturbances. The patient's case is presented with unique features, necessitating a comprehensive diagnostic approach. Conclusion: This case highlights the challenges faced in diagnosing osteomyelitis among CIP patients and emphasizes the need for other diagnostic criteria apart from pain.
ABSTRACT
Inflammatory bowel disease is rare in infants and it includes perianal Crohn's disease, which is inflammation at or near the anus. An early diagnosis is essential to prevent the complications that may affect the development and growth of the child.
ABSTRACT
BACKGROUND: Inflammatory bowel diseases, consisting of Crohn's disease and ulcerative colitis, are chronic bowel relapsing inflammatory disorders. Inflammatory bowel diseases begin rarely in infants. Approximately 25% of patients with inflammatory bowel diseases present before the age of 20 years. Very early-onset inflammatory bowel disease occurs before the age of 6 years; infantile inflammatory bowel diseases occurs before the age of 2 years, and is extremely rare in infants under 1 year of age. CASE PRESENTATION: Herein, we report a case series of 7-month-, 11-month-, and 12-month-old Syrian infants that presented with diarrhea, hematochezia, and pale appearance and were finally diagnosed with infantile inflammatory bowel disease and treated. CONCLUSIONS: Early diagnosis and ruling out infantile inflammatory bowel diseases despite its rarity are recommended. Over and above that, new drugs such as vedolizumab, golimumab, and less invasive treatment methods should also be taken into consideration for better response and adequate remission with improved quality of life.
