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Von Willebrand’s disease was first described in 1926 by Erik Von Willebrand. It is a genetic, constitutional defect of hemostasis that is different from hemophilia. It is classified among the rare diseases whose clinical manifestations are dominated by a hemorrhagic profile, which varies from patient to patient. It is an easily diagnosed disease based on a quantitative and qualitative bioassay of VWF. Treatment is multidisciplinary and is based on well-structured prevention. We report the first case of von Willebrand disease in Niger, diagnosed in the Hematology Department of Niamey’s National Hospital.

We report three cases of neurofibromatosis type 1 disease with literature review, collected in the department of neurology and internal medicine from National Hospital of Niamey (HNN). Two of them were men and the first signs were noted by the mother at the birth in 2 cases. Only one case of consanguinity was observed. Clinically, light brown spots on the skin, neurofibromas, Lisch nodules were constantly observed. Histopathological’s exam confirmed neurofibromas. Moreover, cutaneous and ophthalmological manifestations lead to the diagnostic. Two cases of orthopedic complications were observed: one scoliosis and one Congenital dysplasia of the long bones. There was no specific treatment. Neurofibromatosis type 1 or von Recklinghausen’s disease is the most frequent phacomatosis and its diagnosis is usually composed of a set of clinical criteria of the National Institute Health (Bethesda, 1988).

Plasma cell leukemia is a rare malignant hemopathy, characterized by a peripheral plasma cell proliferation of more than 20% of the leukocyte formula. A few rare cases have been described. From which we report a case of plasma cell leukemia in a 52-year-old Nigerien subject initially in a coma, whose anemia led to the diagnosis in the Onco-Hematology department of the National Hospital of Niamey and the evolution was marked by clinical and biological remission after 3 cures of CTD, but died in an infectious picture after 6 cures.

Takayasu arteritis is a chronic, idiopathic, and inflammatory disease that primarily affects large vessels, such as the aorta and its main branches. Much of the literature describing Takayasu arteritis has originated from Asian countries, and the disease was once thought to be restricted to these regions. During the past few decades, patients with Takayasu arteritis have been increasingly recognized in Africa. We report three first cases of Takayasu’s arteritis in Niger by focusing on epidemiological clinical radiological and therapeutic aspects. Of the three patients, two were women and the age of onset was 27 years in one case and 33 years in the other two cases. Clinically, abolition of at least one peripheral pulse was constantly observed. We find a predominance of the involvement of the supra-aortic trunks in 3 cases and less of the abdominal aortic involvement in 1 case. Moreover, our series is distinguished by a case revealed by a stroke in a male subject. Corticosteroids were successful with clinical improvement and stabilization of the disease in the short and medium term. The revascularization performed in two of the patients. Tayasu arteritis is uncommon disease that must be evoked before a symptomatology non-specific coaches and lead to check the pulse. Ischemic complications are already present at the time of diagnosis. We have found a high frequency of arterial thrombosis in our series.

Polymorphisms in genes that encode crucial signalling molecules have been proposed as factors that influence susceptibility to, and outcome of malaria. We studied the role of a mutation, c.1264 T>G, that causes CD36 deficiency on IgG responses to MSP-119 antigen and malaria incidence. Children were genotyped for the c.1264 T>G mutation at the beginning of the study using PCR-RFLP. IgG levels [optical density (OD) readings] and per cent seropositivity to MSP-119 were determined at baseline by ELISA. Children were followed for 12 months for acquisition of anti-MSP-119 IgG antibody and malaria incidence. We observed a significant increase in the production of anti-MSP-119 IgG antibody in normal and heterozygous children during the 12 months of follow-up, but not in homozygous mutants. Normal children had a significantly lower malaria incidence rate compared to other genotypes (χ2 = 115.59; P G mutation that leads to CD36 deficiency is closely associated with reduced IgG production and higher malaria incidence. It is most likely that deficiency of CD36 which is known to modulate dendritic cell function suppresses the production of protective IgG antibodies directed to Plasmodium falciparum MSP-119 antigen, which predisposes to the acquisition of clinical malaria in children.

Introduction: Wolfram syndrome is an autosomal recessive neurodegenerative disorder. Diabetes mellitus and juvenile bilateral optic atrophy are its major signs. It is recognized that this association, which started in childhood or during adolescence, is sufficient to diagnose Wolfram syndrome. Optic atrophy occurs in 98% to 100% of cases with an average age of onset of 11 years. We reported a study of two confirmed cases referred by the internal medicine department. Observations: Case 1: A 23- year-old woman, deaf and dumb by birth, went through a diabetic ketosis test. Ophthalmologic examination showed reduced visual acuity in the fingers at 5 meters P2 in both eyes. Also, the fundus of the eye showed bilateral atrophic papillary palpation with no signs of retinopathy. She had deafness of deep perception and hypogonadotropic hypogonadism. Deafness, diabetes, optic atrophy, and hypogonadism led to the diagnosis. Case 2: A 21-year-old man born from a first-degree consanguineous marriage serves as a supplement to the management of diabetes. The visual acuity was at counting fingers at 1m to the right eye and sees the hand move to 0.5 m to the left eye. On examination at the slit lamp, it had a bilateral dense cataract. After phacoexeresis, the base revealed bilateral optic atrophy. Ultrasound of the urinary tree showed hypotonia of the renal cavities and a neurogenic bladder. Also, audiometry showed mild sensory deafness. The diagnosis of Wolfram syndrome was made in front of the tetrad: diabetes, optic atrophy, deafness, and urinary signs. Discussion: Wolfram syndrome may be familial or sporadic. The gene however is located on the short arm of chromosome 4. Optic atrophy is secondary to the involvement of pre-genetic fibers, and it is characterized initially by temporal palpation of the papilla. The evolution towards diffuse whitish discoloration occurs in a few months or years with the gradual establishment of a blindness around the age of 17 to 30 years. Conclusion: Wolfram syndrome is a clinical entity characterized by clinical and genetic polymorphism. This diagnosis should be considered in the presence of any type I diabetes associated with optic atrophy in children

Background: The ageing population in developing countries has brought a demographic and an epidemiological transition, with the impact of chronic diseases resulting from life style changes on the health status of the population. Objective: To describ a profile geriatrics patient, specifically to identify epidemiologic, clinical, etiologic and outcome of this group at the department of internal medicine to NNH Patients and method: Medical records of all geriatric patients aged ≥65 years admitted at the department of NNH Between January 2012 and December 2015 were retrieved and reviewed retrospectively. Results: A total of 6074 admissions at the internal medicine department of NNH over three years were reported and 1130 (18, 6%) were geriatrics patients, the average age was 75, 95 years and more than half were men (50,7%). 80 % of patients were in the young old group (65-74 years), 13% in the old group (75-84 years) and 7% in the oldest old group (≥85 years). High blood pressure was the frequent comorbidity (12, 3%) and the most symptoms caused hospitalization were stroke (17, 6%), fevers (16, 5%) and worst health (13, 1%). Frequent illnesses were cardiovascular diseases (38.4%), infections, (19.2%) and endocrine diseases (11%). The average length of hospital stays was 8, 7 days. The mortality rate was 18, 2% and the worst outcomes factors were female sex, frail elderly group in 75 to 84 years and high blood pressure. Conclusion: Chronic diseases were responsible of morbidity and mortality for the majority elderly’s patient.

Resume Introduction La compression du nerf recurrent gauche par l'oreillette gauche dans le retrecissement mitral serre definit le syndrome cardiovocal d'Ortner. L'etiologie vasculaire par anevrisme compressif de l'aorte thoracique est bien documentee dans la litterature. Fait clinique Nous presentons le cas d'une femme de 90 ans presentant une maladie de Horton avec une dysphonie d'apparition recente et decouverte simultanee d'un anevrisme sacciforme de la crosse de l'aorte et d'une paralysie de la corde vocale gauche. Discussion La place de la dysphonie et de l'anevrisme aortique au cours de la maladie de Horton est commentee. Cette observation suggere d'ajouter la maladie de Horton a la liste des etiologies du syndrome d'Ortner.

The current interest in malaria elimination has led to a renewed interest in drugs that can be used for mass administration to minimize malaria transmission. Primaquine (PQ) is the only generally available drug with a strong activity against mature P lasmodium falciparum gametocytes, the parasite stage responsible for transmission. Despite concerns about PQ-induced hemolysis in glucose-6-phosphate dehydrogenase (G6PD)-deficient individuals, a single dose of PQ may be safe and efficacious in clearing gametocytes that persist after conventional treatment. As part of a mass drug intervention, we determined the hemolytic effect of sulfadoxine-pyrimethamine (SP) plus artesunate (AS) plus a single dose of primaquine (PQ; 0.75 mg/kg of body weight) in children aged 1 to 12 years. Children were randomized to receive SP+AS+PQ or placebo; those with a hemoglobin (Hb) level below 8 g/dl were excluded from receiving PQ and received SP+AS. The Hb concentration was significantly reduced 7 days after SP+AS+PQ treatment but not after placebo or SP+AS treatment. This reduction in Hb was most pronounced in G6PD-deficient (G6PD A−) individuals (−2.5 g/dl; 95% confidence interval [95% CI], −1.2 to −3.8 g/dl) but was also observed in heterozygotes (G6PD A) (−1.6 g/dl; 95% CI, −0.9 to −2.2 g/dl) and individuals with the wild-type genotype (G6PD B) (−0.5 g/dl; 95% CI, −0.4 to −0.6 g/dl). Moderate anemia (Hb level of

Aniridia syndrome is a genetic anomaly affecting all ocular structures; it is transmitted by an autosomal dominant mode. In its isolated form aniridia is characterized by a hypoplasia of the iris frequently associated with other ocular anomalies. It the syndromic form it is associated to other systemic abnormalities. Authors are here reporting a case of aniridia associating: a corneal pannus, total aniridia, lens ectopia, and cataract found in a 14 years old girl. She also presented an atopic background with a positive family history of atopia. She is issued from a first degree consanguineous marriage. The management was multidisciplinary. In ophthalmology she underwent an intra-capsular extraction of the lens in both eyes with no intra-ocular lens implantation. Dermatological management was treatment of cuteanous lesions with emollients, corticoids and antihistamines drugs and ointments.