Neurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour.

Introduction: Gastrointestinal stromal tumours (GISTs) are an important, though uncommon, cause of obscure gastrointestinal bleeding and may rarely be associated with genodermatoses such as neurofibromatosis type 1 (NF1). NF1-related GISTs have unique phenotypic features compared with sporadic GISTs and may elude diagnosis due to their predilection for the small bowel. Case Presentation: We report a case of a 45-year-old Singaporean woman with café-au-lait macules and cutaneous neurofibromas who presented with occult obscure gastrointestinal bleeding and was eventually discovered to have a bleeding jejunal GIST. This finding, considered together with her cutaneous signs, eventually led to the diagnosis of NF1. Conclusion: Genodermatoses and their gastrointestinal complications are likely under-reported in adult Southeast Asian populations and deserve greater awareness from gastroenterologists practising in this region.

A rare case of intratesticular leiomyoma.

A 47-year-old man presented with a scrotal swelling. Ultrasonography of the testes showed that it was an extratesticular swelling. However, the swelling was intraoperatively found to be intratesticular. Histology showed an intratesticular leiomyoma, which is extremely rare.

Pleural fat-forming variant of solitary fibrous tumor.

The fat-forming variant of solitary fibrous tumor is rare. It occurs predominantly in the deep soft tissues of the retroperitoneum and thigh. We describe a case of fat-forming solitary fibrous tumor arising from the pleura, which was successfully treated using a video-assisted thoracoscopic approach. The patient remained free of recurrence 2 years after surgery and continues to be under long-term follow-up.

Subacromial bursitis with giant rice bodies as initial presentation of rheumatoid arthritis.

Rice body formation is a nonspecific response to chronic synovial inflammation associated with tuberculous arthritis, rheumatoid arthritis, juvenile rheumatoid arthritis, seronegative inflammatory arthritis, and even osteoarthritis. Such bodies were termed rice bodies because of their close resemblance to grains of polished white rice. We present a case report of a middle-aged woman with right shoulder subacromial/subdeltoid bursitis with giant rice body formation as her initial presentation of rheumatoid arthritis. Her right shoulder symptoms resolved after subacromial and subdeltoid bursectomy and removal of the rice bodies. She subsequently developed inflammatory arthritis of other joints, met the criteria for rheumatoid arthritis, and has been treated medically.

Concurrent intermediate uveitis and an enhancing intracranial lesion as the initial manifestation of sarcoidosis.

INTRODUCTION: Posterior segment involvement has been described to be associated with central nervous system involvement in sarcoidosis as a result of direct sarcoid tissue infiltration or mass effect of a cerebral lesion. However, isolated intermediate uveitis occurring concurrently with central nervous system involvement prior to extensive systemic disease is rare. CLINICAL PICTURE: We describe a patient with neuro-ophthalmic manifestations of intermediate uveitis and an enhancing basal ganglia lesion at initial presentation, in the absence of extensive systemic disease. TREATMENT: He was treated with high-dose systemic steroids which was progressively tailed down over 6 months. OUTCOME: There was prompt resolution of vitritis with good preservation of visual acuity. CONCLUSION: The difficulties of the initial diagnosis of sarcoidosis and the indications for initiation of steroid therapy are illustrated. We use this case to emphasise the need for a high clinical suspicion of sarcoidosis in the presence of similar unusual and seemingly unrelated combinations of neurological manifestations so as to facilitate the prompt institution of appropriate treatment when indicated.