Reticular dysgenesis: a very rare and fatal immunodeficiency disease

Human severe combined immunodeficiency [SCID] represents a group of rare, often fatal, congenital disorders characterized by little or no immune response. Reticular dysgenesis [RD] is the most severe form of inborn SCID. Until recently, its genetic basis was unknown. It is only in 2008, that a gene defect has been described. We present here, a unique hematological phenotype of RD with a dramatic clinical course. The paucity of such cases in the literature, merits this report

Abdominal tuberculosis: Clinical presentation and outcome

To study the clinical presentation and outcome of cases of Abdominal Tuberculosis. Prospective cross-sectional study from January 2005 to December 2006. Surgical Unit II and V, Civil Hospital, Karachi. Fifty four patients of Abdominal Tuberculosis were seen during the study period Four patients were lost to follow-up, which were excluded. Detailed information of all the patients including age, sex, symptoms, signs, investigations and management was recorded, analyzed and compared with local and international data. Out of the 50 patients with Abdominal Tuberculosis, 31 were females and 19 males. Their ages ranged from 17 to 63 years, with a mean age 425.1 years. Thirty five cases were admitted through Emergency and 15 through Outpatients departments. Abdominal pain was the most common symptom found in 44 [88%] patients followed by vomiting in 33 [66%]. Abdominal tenderness was seen in 22 [44%] patients, while 16 [32%] patients had rigidity and other features of peritonitis. Surgery was performed in all these patients, limited right hemicolectomy in 17 [34%], segmental resection and anastomosis in 12 [24%], ileostomy and strictureplasty in six [12%] each, repair of perforation in five [10%] and adhesiolysis in four [8%] patients. Overall mortality was 8% due to septicaemia and multiorgan Abdominal Tuberculosis is a significant clinical entity with lethal complications in neglected cases. It affects a younger age group and is more common in females. Clinical features are rather non-specific but vague ill health, low grade fever, weight loss and anorexia may help to diagnose the case