Abdominal manifestation of von Hippel-Lindom disease in a Kuwaiti family

Von Hippel Lindau disease [VHL] is an autosomal dominant multisystem disorder, caused by a genetic defect in the short arm of chromosome 3, and characterised by the development of neuroectodermal tumours. The disease shows variable penetrance between and within affected families and manifests itself by 5 main group of lesions. 1.-Retinal angiomas, often multiple and bilateral. 2.-CNS haemangioblastomas, typically infratentorial although other parts of the CNS can be involved. 3.-Renal cell carcinomas, very commonly multiple and bilateral. 4.-Abdominal [renal, hepatic, pancreatic] cysts and cystadenomas. 5.-Phaeochromocytomas in VHL-type 2. The abdominal manifestations of VHL may occur independently of the CNS lesions and account for much of the morbidity and mortality from this disease. They may also provide a marker for the inheritance of the disease, therefore making their detection of great importance. In this paper, we describe the abdominal manifestations in 13 members of a Kuwaiti family and briefly review the literature on the subject. We also briefly discuss the natural history and treatment of the renal lesions, and the current recommended screening protocol for the disease

Retroperitoneal liposarcoma: an unusual cause of abdominal enlargement encountered in the medical outpatients'dept

A large retroperitoneal tumor [10kg] was excised from a 50 year old lady who presented to the Medical Outpatients' Department with abdominal enlargement. Retroperitoneal liposarcoma is a rare soft-tissue sarcoma which commonly presents as a painless abdominal mass. Diagnosis is usually by computerised tomography and histological examination. It has a poor prognosis and a high recurrence rate. Wide local surgical excision is the optimal therapy

Foreign body perforation the cervical esophagus

Two cases of foreign body perforation of the cervical esophagus are presented. Although the foreign bodies were shown in soft tissue radiographs of the neck, esophagoscopies were normal and their extraluminal position had to be confirmed by computerized tomography. In 1 case, the foreign body was lodged in the thyroid, necessitating a partial thyroid lobectomy. Prompt diagnosis and management prevented serious complications in both cases