Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge.

Background: Mendelian susceptibility to mycobacterial diseases (MSMD) is an inborn error of immunity categorized as defects in intrinsic and innate immunity. MSMD is characterized by vulnerability to less virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccine strains, as well as environmental mycobacteria (EM). The definitive diagnosis is made by genetic analysis. Treatments constitute antimycobacterial, interferon-gamma, surgery, and hematopoietic stem cell transplantation (HSCT), which is the only known curative treatment. The mortality rate ranges from 40% to 80% depending on the severity of the mutation. Case: A 13-year-old female patient had multiple hospital visits since the age of 6 months. The most striking diagnosis was repeated mycobacterial infections. She had tuberculosis affecting lymph nodes, skin and soft tissue, bone and joints, the lungs, and epidural and paraspinal regions. She has taken all the childhood vaccines, including BCG. She has been treated four times with first-line and once with second-line antituberculosis drugs. Currently, she is on treatment for nontuberculous mycobacteria and is receiving interferon-gamma. Genetic studies showed autosomal dominant Mendelian susceptibility to mycobacterial disease due to IFNG-R1 defect. Conclusion: To the authors' knowledge, this is the first case report of Mendelian susceptibility to mycobacterial diseases secondary to interferon gamma receptor 1(IFNG-R1) defect in Ethiopia. Although it has been immensely challenging, our multidisciplinary team has learned a lot from the clinical presentation, diagnosis, and management of this child.

Helicobacter pylori, gastritis and non-ulcer dyspepsia in Ethiopian patients.

The aim of this study is to find out the prevalence of Helicobacter pylori infection in patients with nonulcer dyspepsia (NUD) and asymptomatic controls and to see if there is an etiological association between gastritis, NUD and Helicobacter pylori. One hundred thirty six patients with NUD and 71 controls had six endoscopic biopsies from different sites of the gastric mucosa for histological diagnosis. Helicobacter pylori was looked for in all biopsy specimens utilizing half Gram, Giemsa and Gimenez staining techniques. Type B chronic gastritis was detected in 96% of the NUD cases and in 100% of the asymptomatic controls (P > 0.05). Helicobacter pylori was found in 82 (65%) patients with NUD and in 38 (56%) asymptomatic controls (P > 0.05). Type B chronic gastritis is almost universal in both NUD cases and asymptomatic controls. There is no difference in the prevalence of Helicobacter pylori infection between the two groups. The absence of Helicobacter pylori in a significant number of patients (36%) and controls (45%) with gastritis contradicts the etiological association between Helicobacter pylori and gastritis reported by others, suggesting that in Ethiopia there may be a chronic environmental gastritis which may not be helicobacter-related. There is no correlation between NUD and Type B gastritis, and between symptoms and Helicobacter pylori infection in this population.

Comparison of diagnostic methods for detection of Helicobacter pylori.

Of two hundred Ethiopian patients with dyspepsia, multiple biopsies were taken from the antrum of the stomach. Helicobacter pylori was cultured from 85% of duodenal ulcer and in 75% of chronic antral gastritis patients. The overall Helicobacter pylori positivity was 70%. The sensitivity, specificity, positive and negative predictive values of the tests as compared to culture were as follows, respectively: direct urease test 100%/87%/95%/100%, direct gram stain 60%/98%/99%/51%, histological gram stain 66%/97%/98%/56%, Giemsa stain 100%/97%/99%/100% and Gimenez stain 100%/87%/95%/100%. It is concluded that gram staining of direct tissue smear or histology is an insensitive method in the diagnosis of Helicobacter pylori. All the other tests, are shown to be valid. Urease test is an excellent test for provision of presumptive diagnosis of Helicobacter pylori while awaiting confirmation either by culture of histology.

Analysis of surgical admissions to the Ethio-Swedish Children's Hospital (1984-1988) in Addis Ababa.

Surgical problems in children result in significant morbidity and mortality. A retrospective analysis of all surgical patients admitted to the Ethio-Swedish Children's Hospital (ESCH) over a five year period from 1984 to 1988 was made. There were a total of 2,281 surgical patients admitted, accounting for 22% of all hospital admissions (total = 10,364). The gastrointestinal and musculoskeletal systems were the most common systems involved. Acute appendicitis accounted for 13.9% (N = 318), cleft-lip and palate 8% (N = 183), and burns 6.9% (N = 157) of all surgical admissions. Accidents and trauma accounted for 25% of the surgical admissions (N = 564). Of these, the most common conditions were burns, car accidents, accidental falls, and foreign body aspirations. The over all mortality rate was 4% (N = 98). Acute appendicitis, intussusception, acute laryngotracheobronchitis (ALTB), and burns were associated with a high mortality. Of the neonatal admissions, one third died shortly after surgery, probably due to anaesthetic, fluid and electrolyte imbalance. Examination of the general pattern of surgical admissions revealed that many of the conditions were preventable, or amenable to medical therapy if detected early. Health education of the public is therefore necessary in order to reduce the morbidity and mortality of these conditions.