Congenital chloride diarrhea (CCD) is a rare genetic disorder characterized by persistent watery diarrhea and electrolyte imbalances. Herein, we report the case of a 6-year-old girl with a significantly delayed diagnosis of CCD, who had been misdiagnosed with Bartter syndrome since infancy due to atypical symptoms. Notably, the patient presented with rare gastrointestinal complications, including colonic ulcerations and an active perianal fistula. While the colonic ulcerations resolved under standard conservative medical treatment, the concurrent perianal fistula completely healed using an innovative, non-surgical approach consisting of local rectal antibiotic application (cefdinir powder) and antiseptic sitz baths. This case demonstrates that CCD can present with unusual structural complications. Crucially, although CCD typically manifests in early infancy, clinicians should consider this genetic metabolic disorder even in older children presenting with chronic diarrhea and recurrent electrolyte disturbances.

Complex perianal Crohn's disease often requires functional assessment beyond anatomy. We report a 30-year-old man with transsphincteric fistulae and supralevator extension. Point-of-care transperineal ultrasound with contrast and shear-wave elastography showed avid rim enhancement and mixed stiffness in a left ischioanal lesion, favoring phlegmon over liquefied abscess. Magnetic resonance imaging confirmed complex tracts; endoscopic ultrasound deemed internal drainage unsafe. On examination under anesthesia, a seton was placed, and only a limited incision was performed, yielding minimal pus. Multimodal transperineal ultrasound provided real-time vascular and tissue characterization, altered surgical planning, and avoided unnecessary wide drainage while complementing MRI.

Perianal fistulizing Crohn's disease (pfCD), a frequent and serious manifestation of Crohn's disease (CD), is characterized by perianal inflammation and fistula formation and severely impacts patient quality of life. Due to its complex and progressive nature, pfCD requires effective, multidisciplinary management combining both medical and surgical approaches. Infliximab (IFX), a tumor necrosis factor inhibitor, remains the preferred treatment of pfCD. It is recommended in several international clinical guidelines and supported by extensive clinical evidence demonstrating its efficacy and safety in this patient population. Higher IFX serum concentrations have been associated with improved clinical outcomes in CD, reinforcing the need for optimized therapeutic strategies. Subcutaneous (SC) IFX is a more recently available alternative to intravenous (IV) IFX, offering comparable efficacy and safety in patients with CD and greater convenience through self-administration. Although SC IFX has not been evaluated in randomized controlled trials specifically in patients with pfCD, its use has been explored in real-world prospective and retrospective studies. SC IFX treatment in patients with pfCD has achieved sustained clinical and radiological remission with low recurrence rates, and high treatment persistence was observed without new safety issues, supporting its potential as a therapeutic option for pfCD. SC IFX may provide additional advantages over IV IFX, including reduced treatment burden for patients. However, evidence from prospective studies specifically investigating SC IFX in pfCD remains limited. Further research, particularly studies evaluating pfCD-specific clinical and radiological outcomes, are needed to better define the role of SC IFX in pfCD treatment. In summary, this review underscores the well-established role of IV IFX in pfCD, highlights the emerging evidence supporting SC IFX, and identifies key knowledge gaps that require further investigation to inform future treatment strategies in pfCD.

Congenital afibrinogenemia is a rare autosomal recessive coagulation disorder characterized by absent or severely reduced circulating fibrinogen levels, leading to variable hemorrhagic manifestations. The coexistence of congenital afibrinogenemia and Crohn disease is exceptionally rare and represents a major diagnostic and therapeutic challenge, particularly in patients with active fistulizing perianal disease requiring repeated invasive procedures and immunosuppressive therapy. A 20-year-old woman with congenital afibrinogenemia diagnosed during childhood presented with chronic bloody diarrhea and perianal symptoms. Her bleeding history included umbilical cord bleeding, post-vaccination bleeding, recurrent ecchymoses, and fibrinogen levels below 0.4 IU/L. Seven months before admission, she developed a perianal abscess requiring surgical drainage, followed by persistent mucous and bloody diarrhea. Imaging demonstrated inflammatory rectal thickening and an active horseshoe anal fistula. Because of the anticipated hemorrhagic risk associated with endoscopic biopsies, intravenous fibrinogen concentrate was administered before endoscopy. The diagnosis of colonic Crohn disease with active fistulizing perianal involvement was established based on clinical, radiological, endoscopic, and histopathological findings. Following multidisciplinary evaluation, treatment with infliximab and azathioprine was initiated. During follow-up, recurrent epistaxis was successfully controlled with fibrinogen replacement therapy, while gastrointestinal and perianal symptoms markedly improved without major hemorrhagic, thrombotic, or infectious complications. This association of congenital afibrinogenemia with active fistulizing perianal Crohn disease highlights the complexity of balancing inflammatory control, procedural safety, and hemorrhagic risk. Individualized multidisciplinary management and appropriate peri-procedural hemostatic support are essential to optimize outcomes in this exceptionally rare clinical setting.