Diagnosis: Behçet Disease
The most likely diagnosis is B - Behçet disease, given the classic triad of recurrent oral and genital ulcers with ocular involvement (eye pain and redness), combined with the history of cerebral thrombosis and gastrointestinal manifestations (bloody diarrhea). 1
Clinical Reasoning
This patient presents with the pathognomonic features that fulfill diagnostic criteria for Behçet disease:
Diagnostic Criteria Met
- Recurrent oral ulcers (required criterion) 1
- Recurrent genital ulcers (major criterion) 1, 2
- Ocular involvement with eye pain and redness, consistent with uveitis/retinal vasculitis (major criterion) 1, 2
- Gastrointestinal involvement with bloody diarrhea, likely representing ileocecal ulceration (common in Behçet disease) 2, 3, 4
- Vascular involvement with cerebral thrombosis, a serious manifestation of Behçet disease 5, 6
The American College of Rheumatology criteria require recurrent oral aphthous ulcers plus at least two of the following: recurrent genital ulceration, uveitis/retinal vasculitis, or specific skin lesions—this patient clearly meets these requirements. 1
Why Not the Other Options?
Crohn's Disease (Option A)
- While Crohn's can cause oral ulcers and bloody diarrhea, it does not typically cause genital ulcers or the specific pattern of ocular inflammation seen here 2
- Cerebral venous thrombosis is exceedingly rare in Crohn's disease
- The combination of recurrent genital ulcers with eye involvement points away from inflammatory bowel disease 7
SLE (Option C)
- SLE can cause oral ulcers and thrombosis, but genital ulcers are not a typical feature 7
- The pattern of ocular involvement differs (SLE typically causes retinal vasculopathy rather than uveitis)
- The gastrointestinal manifestations described are more consistent with Behçet disease 2
Scleroderma (Option D)
- Does not present with recurrent oral or genital ulcers 7
- Gastrointestinal involvement in scleroderma manifests as dysmotility, not bloody diarrhea with ulceration
- Cerebral thrombosis is not a characteristic feature
Critical Distinguishing Features
The cerebral thrombosis is particularly significant, as vascular involvement occurs in approximately one-third of Behçet patients and represents a poor prognostic factor requiring aggressive treatment. 1, 6 Cerebral venous thrombosis is a life-threatening complication specific to Behçet disease that can lead to serious consequences without early recognition and treatment. 6
The gastrointestinal involvement with bloody diarrhea most commonly affects the ileocecal region in Behçet disease, with ulcerations that may penetrate or perforate. 2, 3 This patient likely has intestinal Behçet disease, which can present with chronic diarrhea and hematochezia. 4
Clinical Implications
This patient has major organ involvement (ocular, vascular, and gastrointestinal), which is associated with poor prognosis and requires prompt, aggressive treatment. 1, 8 Young males with early disease onset experience more severe disease courses and require closer follow-up. 8
The presence of cerebral venous thrombosis with Behçet disease should be treated with corticosteroids and immunosuppressive therapy; notably, anticoagulation is controversial in Behçet-related thrombosis as venous thrombi adhere to vessel walls and rarely embolize. 5, 6