Hurler-Scheie syndrome in Niger: a case series.

BACKGROUND: Hurler-Scheie syndrome is an intermediate form of mucopolysaccharidosis type I which is a rare lysosomal storage disorder caused by the deficiency or complete absence of enzyme alpha-L-iduronidase activity. We report the first documented cases of Hurler-Scheie syndrome observed in Niger in a Touareg family. CASE PRESENTATION: We studied the case of two 12-year-old twin Touareg boys and their 10-year-old Touareg sister whose parents are first-degree cousins, and there was no history of similar cases in their previous generations. The diagnosis of Hurler-Scheie syndrome was considered in these patients on the basis of clinical and radiological arguments, with the highlighting of a deficiency of enzyme alpha-L-iduronidase in serum and leukocytes. The twins had presented the first symptoms at the age of 24 months and the diagnosis of Hurler-Scheie syndrome was made at the age of 12 years. In their younger sister, the first symptoms were observed at the age of 3 years and the diagnosis was made at the age of 10 years. The three probands were born after a normal full-term pregnancy and a spontaneous vaginal delivery according to their parents. Their birth weight, height, and head circumference were within normal limits according to their parents. The three probands were brought in for consultation for stunted growth, joint stiffness with gait disorders, deformities of the thoracolumbar spine, recurrent otitis media, decreased hearing, increased abdominal volume, snoring during sleep, and facial dysmorphism. CONCLUSIONS: Even in countries with limited access to diagnostic means, a good knowledge of the clinical manifestations of the disease can help to guide the diagnosis of mucopolysaccharidosis type I.

[Arterial hypertension in chronic hemodialysis patients at the National Hospital of Niamey Lamordé]. / L'hypertension arterielle chez les hemodialyses chroniques a l'Hopital national de Lamorde Niamey.

A prospective study was conducted at the department of the National Hospital in Niamey, Niger Lamordé over a period of 12 months (from January 1 to December 31, 2009) on 99 patients on chronic hemodialysis. The purpose of this study was to analyze the epidemiological, clinical, paraclinical and therapeutic aspects of arterial hypertension in this population.The average age was 37 years (range 17 to 65) , the prevalence of arterial hypertension was 61.61 %. The most common functional signs are headache, present in 29.50 % of patients, dizziness in 24.59% and phosphenes in 18.03% of them. Low arterial hypertension was found in 21.32%, mild for 44.26% of patients and severe in 34.42%, tachycardia in 21.31% and heart murmur in 19.67% of them. The dominant etiologies of chronic renal failure in this series remain the chronic glomerulonephritis in 62.30% of cases and the nephroangiosclerosis in 36.06 % of the cases. Cardiomegaly is found in more than half of the patients, the atrial and ventricular hypertrophy in 39.34% and repolarization disorders in 19.67% of them. The systolic and diastolic blood pressure in patients have been standardized in 26.22% under dialysis alone, dialysis plus inhibitor of angiotensin conversion enzyme alone 44.26%, or associated with a calcium channel blocker with 21.33%, and in 8.19% of them arterial hypertension resisted. At the end of this study, there is a high prevalence of arterial hypertension with cardiac resonance in patients on chronic hemodialysis, and its mechanism appears to be natural or volo-dependent, renin-dépendant or both.

Une étude prospective a été menée au service de l'Hôpital National de Lamordé à Niamey au Niger sur une période de 12 mois (du 01 janvier au 31 décembre 2009) portant sur 99 patients hémodialysés chroniques. Le but de cette étude est d'analyser les aspects épidémiologiques, cliniques, paracliniques et thérapeutiques de l'hypertension artérielle de cette population.L'âge moyen est de 37ans (extrêmes: 17 et 65 ans); la prévalence de l'hypertension artérielle est de 61,61%. Les signes fonctionnels les plus fréquents sont les céphalées, présentes chez 29,50 % des patients, les vertiges dans 24,59% des cas et les phosphènes chez 18,03 d'entre eux. L'hypertension artérielle légère est retrouvée chez 21,32%, la moyenne chez 44,26% des patients et la sévère chez 34,42%; la tachycardie chez 21,31% et le souffle cardiaque chez 19,67% d'entre eux. Les étiologies dominantes de l'insuffisance rénale chronique dans cette série demeurent les glomérulonéphrites chroniques dans 62,30% des cas et la néphro angiosclérose dans 36,06% des cas. La cardiomégalie est retrouvée chez plus de la moitié des patients; les hypertrophies auriculaire et ventriculaire chez 39,34% et les troubles de la repolarisation chez 19,67% d'entre eux. Les chiffres tensionnels systolique et diastolique chez les patients ont été normalisés chez 26,22% sous la dialyse seule, sous dialyse plus inhibiteur de l'enzyme de conversion seul chez 44,26% ou associé à un inhibiteur calcique chez 21,33% et chez 8,19% d'entre eux l'hypertension artérielle a résisté. Au terme de cette étude, il en ressort une forte prévalence de l'hypertension artérielle avec un retentissement cardiaque chez les patients en hémodialyse chronique, et son mécanisme semble être d'origine soit volo dépendant, rénine dépendantou les deux associés.

Monitoring adverse events following immunization with a new conjugate vaccine against group A meningococcus in Niger, September 2010.

INTRODUCTION: MenAfriVac is a new conjugate vaccine against Neisseria meningitidis serogroup A, the major cause of meningitis outbreaks in sub-Saharan Africa. In Niger, the MenAfriVac introduction campaign was conducted in the District of Filingue, during September 2010, targeting 392,211 individuals aged 1-29 years. We set up an enhanced spontaneous surveillance system to monitor adverse events following immunization (AEFI) during the campaign period and 42 days thereafter. METHODS: All the 33 health centres of the district have been designated as surveillance units, which reported AEFIs on a daily basis to the health district headquarters. Health care workers were instructed to screen patients presenting with predefined conditions of interest and patients spontaneously presenting at units or at vaccination posts with complaints after vaccination. Cases were classified as serious (resulting in death, hospitalization or long-term disability) or minor. A National Expert Committee was established to determine if serious cases were causally associated with the vaccine. RESULTS: In total, 356,532 vaccine doses were administered. During 61 days of monitoring, 82 suspected AEFIs were reported: 16 severe and 66 minor. The cumulative incidence was of 23.0 per 100,000 doses. Among severe cases, 14 were classified as coincidences, one urticaria complicated by respiratory distress was classified as a probable vaccine reaction, and one death was unclassifiable because post-mortem information was unavailable. The number of units that reported at least one case was 19/33 (57.6%). CONCLUSIONS: Although these results are limited by underreporting of cases, we did not identify safety concerns with MenAfriVac. The lessons learned from this experience should be used to reinforce the national pharmacovigilance system in Niger to make it complaint with international standards. In order to do so, we recommend using a lighter system for routine; and conducting regular training and supervisory activities to increase its acceptance among local health workers.