Ataxia telangiectasia: findings from two families in the Sudan

We report herein two families with ataxia telangiectasia. Patients in both families fulfilled the diagnostic criteria and showed unusual presentations that are rarely reported in literature. No patient developed malignancy yet. To the best of our knowledge this is the first report on Ataxia telangiectasia from Sudan

Cerebral venous thrombosis. Clinical presentation and outcome in a prospective series from Sudan

To describe the presentation and outcome of treatment of cerebral venous thrombosis [CVT] in patients from Sudan, an example of a developing country. In a prospective study, we described the clinical features, risk factors, and outcome of CVT in patients admitted to the National Center for Neurological Diseases, Khartoum, Sudan, the only specialized neurological hospital in the country, during the period from February 2001-October 2006. Patients were referred from other hospitals in the town or from nearby hospitals in Khartoum state. We recruited only adult and adolescent patients aging >/= 15 years. We reviewed 15 patients [12 females and 3 males] with a mean [ +/- SD] age of 33.9 +/- 11.8 years. Headache [n=15], papilledema [n=13], paresis [n=3], and generalized seizures [n=3] were the most common symptoms, and signs encountered. A prothrombotic risk factor was often identified [n=12]. At the time of the first visit namely, 12 weeks after discharge, 7 patients [46.7%] attained complete neurological recovery, 4 [26.7%] developed optic atrophy, and 2 [13.3%] died of pulmonary embolism. The clinical features and risk factors of CVT in Sudan are not different from elsewhere, but the outcome is less favorable. Places with less privileged health service resources, late presentation or delayed accessibility to appropriate diagnostic tools may negatively influence the final outcome

Pott's disease of the spine: findings from Sudan

Spinal tuberculosis is the commonest type of skeletal tuberculosis. It has variable presentations, but commonly presents with backache and weakness of lower limbs. Its prevalence is increasing world wide after the epidemic of HIV. To the best of our knowledge there are no studies addressing the clinical presentation of this disease in Sudan. In this study we included 84 patients with spinal tuberculosis. The study was conducted in two major hospitals in Khartoum in the period from January 2002 to December 2006. Results show males constituted 46 patients [54.8%] and females 38 [45.2%]. Their ages ranged between 16 years and 80 years, the mean age was 44.46 +/- SD 16.99. All patients had pain and or tenderness at the site of the lesion. Paraplegia or paraparesis was reported in 36 patients [42.8%], quadriplegia or quadriparesis in 25 [30%], Sciatica and root weakness in 22 [26.1%] and right brachial monoplegia in one patient. Evidence of active pulmonary tuberculosis was found in 15 patients [17.8%], abdominal tuberculosis in 7 patients [8.3%], lymphatic Tuberculosis in 1 patient [1.2%]. Cervical vertebrae were affected in a total of 26 patients [30.9%], the dorsal in 39 patients [46.4%] and the lumbar in 30 patients [35.7%]. One vertebra was affected in 3 patients [2.57%], 2 adjacent vertebrae in 48 patients [57.14%], 3 vertebrae in 24 patients [28.57%], 4 vertebrae in 4 patients [4.76%], 5 vertebrae in 1 patient [1.19%] and 6 vertebrae in 4 patients [4.76%]. HIV test was negative in all patients. Tuberculin test was positive in 80 patients [95%] and negative in 4 patients [5%]

Osteopetrosis: a rare disease with rare presentations

At least eight types of osteopetrosis have been described in humans. The primary underlying mechanism involved in all forms is the failure of normal osteoclastic bone resorption. Osteopetrosis tarda, the benign adult form, is inherited as an autosomal dominant trait. Patients typically are asymptomatic and have good long-term survival rates because bone marrow failure rarely occurs. A more common and malignant form, osteopetrosis congenita, presents in infancy and results in bone marrow failure caused by complete replacement of the marrow spaces with osteoclasts. Other forms are rare and have variable manifestations. In this communication we report 2 cases on possibly a rare form of osteopetrosis, the intermediate form