[Malignant infantile osteopetrosis revealed by choanal atresia: A case report]. / Ostéopétrose maligne infantile révélée par une atrésie des choanes : à propos d'un cas.

Malignant infantile osteopetrosis is a rare genetic disease characterized by increased bone density due to osteoclastic dysfunction. We report on the case of a 3-month-old girl who was referred to our hospital by the ENT department for severe anemia in the context of bilateral choanal atresia. Clinical examination showed failure to thrive, anemia, respiratory distress, bilateral choanal atresia, and chest deformation. The abdomen was soft with large hepatosplenomegaly. We noted a lack of eye tracking, no optical-visual reflexes, and left nerve facial paralysis. The blood count showed normocytic normochromic anemia with severe thrombocytopenia. The infectious work-up and blood smears were negative. The skeleton X-ray showed diffuse bone densification of the skull, long bones, pelvis, vertebrae, and ribs. The facial bone CT confirmed membranous choanal atresia. The molecular biology search for the TCIRG1 gene mutation was not available. The patient had supportive treatment (transfusion, oral steroid, vitamin D, oxygen, nutrition). Bone marrow transplantation was indicated but not available. She died at 6 months in a context of severe anemia and bleeding. Malignant infantile osteopetrosis is rare and symptoms are nonspecific. Diagnosis should be considered in young infants presenting refractory anemia, particularly in the context of choanal atresia. Bone marrow transplantation remains the only curative treatment.

[Congenital absence of the patella: two cases reported]. / Absence congenitale de rotules: à propos de deux cas.

OBJECTIVES: To remind a rare disease, To emphasize the importance of patellar agenesis because it's a calling sign, To insist on the necessity to know child bony growth. MATERIALS AND METHODS: We reported observations of two negro-african children's, one female and one male, who were both 7-years-old. They were referred for troubles of the walk, knee pains for the male, and for the female frequent falls and hypotonia. We have noted previous history of second degree familial consanguinity and paternal grandfather's ungueal anomalies for the female. RESULTS: For the female, examination showed ligamentary hyperlaxity, anterior flattening and lateral dimple of the knee, so varied skeletal defects. Skeletal radiographies displayed absence of the patella, "console like" aspect of the superior tibial metaphysis. At the male, examination is normal. Standard radiographies showed semilunar opacities and tomodensitometry showed presence of a tissular formation who looks like the patella. Aplasia of the patellar apparatus is evocated for the female, even though for the male, the diagnosis of hypoplasia seems more probable. CONCLUSION: Absence of patella is rare. It can be transient and patellar nucleus appears lately. It can be permanent and in this case, it is isolated whether associated with other osseous malformations. Interest of such observations is in its rarity and its functional impact related to the biomechanical importance of the patella.

[Infantile cortical hyperostosis: case report]. / Hyperostose Corticale Infantile : a propos d'un cas.

Infantile cortical hyperostosis (ICH) or Caffey-Silverman disease is affection that attained skeleton most frequently flat bones, contiguous fasciae and muscles. We reported the case of a 3 months old female infant of Mauritanian origin, referred for recurrent osteitis of the left clavicle. The present complaints are incessant snivelling and functional disability of the left upper limb. Examination showed clavicular and mandibular swelling, without fever. Biological check-up showed inflammatory signs. Radiographies showed cortical thickening of the left clavicle and mandible. Interest of such an observation is in the rarity of this affection, its originality as for the striking age limitation, in the disconcerting but suggestive symptomatology, at least in the classical sites and in the possibility of its antenatal diagnosis.

[The occipital encephaloceles: report of 16 cases]. / Leb cephaloceles occipitales: a propos de 16 cas.

The encephaloceles belong to dysraphic state abnormalities. Publications on this issue are rare and sparse in Africa. The aim of our study is to describe clinical patterns of occipital encephaloceles, and emphasize on surgery. We collect retrospectively a population of 16 patients. Cranial Ultrasound Echographia has been done for all of them. Only 3 patients got brain CT scan. Medium age was 2 months. The sex ratio was coted 1. The consanguinity was noted in 37% of the cases. The pedicular aspects were more frequent. With neuroimaging studies the diagnosis was reached everytime. It showed hydrocephalus on 3 patients. 15 patients have been operated. One dead before going to surgery. The outcome was good for 13 patients (81%). But 3 patients (18%) deaded, and among them, 2 deaded during post surgery period. A better clinical evaluation showed be done using MRI. The control of epidemiology of these conditions depend on the improvement of the quality of eating in particularly in women bearing child, and performing a genetic counseling.

Hématome sous dural, complication du traitement chirurgical des hydrocéphalies. Notre expérience à Dakar

Introduction : L'hématome sous dural est une complication observée lors du traitement chirurgical de l'hydrocéphalie. Avant l'avènement de la tomodensitométrie à Dakar, une incidence de 0,8 % était trouvée. L'objectif de notre travail est de réévaluer cette incidence à la lumière de cet examen et de déterminer les divers facteurs étiologiques. Patients et Méthode : Nos patients ont été opérés par dérivation ventriculo-péritonéale et sont âgés de 8 à 30 ans au moment du diagnostic. Quatre sont de sexe féminin. Le signe le plus fréquent est l'hypertension intra-cranienne. La tomodensitométrie a établi le diagnostic dans tous les cas. Elle montrait dans 4 cas, un hématome unilatéral et dans deux cas, une forme bilatérale. D'importantes calcifications sont retrouvées dans deux cas. Cinq patients ont été opérés et nous notons deux décès. Les valves utilisées sont à débit de drainage fixe. Résultat : Il existe une augmentation de l'incidence par rapport à notre première série datant de 12 ans. Par rapport aux autres systèmes de drainage, nous ne notons pas de différence significative. Aucun facteur étiologique déterminant n'est retrouvé. Conclusion Cette complication pouvant pauci-symptomatique, la réalisation d'examens tomodensitométriques systématiques permettrait de constater une plus grande fréquence de cette complication

[Spiral CT in aortic dissection]. / Place de l'angioscanner dans le diagnostic de la dissection aortique.

Patients with suspected dissection of the thoracic aorta require immediate diagnostic evaluation so that urgent therapeutic interventions can begin. Two women with suspected aortic dissection and one man with abdominal aortic aneurysm underwent color-flow Doppler echocardiography and CT angiography with multiplanar reconstructions. Spiral CT showed ascending aortic dissection (type A Stanford) in two cases and descending aortic dissection (type B Stanford) in one case. It also access the visualization of the intimal flap, the extent of dissection, the size of the aorta, and the presence of pericardial fluid. CT angiography is an accurate diagnostic procedure for patients with suspected aortic dissection and possesses several advantages over other modalities such as transthoracic echocardiography, transesophageal echocardiography and aortography.

Place de l'angioscanner dans le diagnostic de la dissection aortique

La dissection aigue de l'aorte thoracique est une urgence thérapeutique. L'imagerie doit rapidement poser le diagnostic et faire le bilan d'extension. Le but de ce travail est de montrer l'intérêt de l'angioscanner dans le diagnostic de DA à parti de 3 observations. Deux femmes de 40, 43 ans adressées pour dissection aortique thoracique et 1 homme de 60 ans pour anévrysme aorte abdominale ont bénéficié d'une échographie cardiaque et d'un angio-scanner de l'aorte thoraco-abdominale suivi de reconstructions multiplans. La TMD a permis de montrer une dissection de l'aorte ascendante dans 2 cas (stade A de Stanford) et de l'aorte abdominale dans 1 cas (stade B de Stanford) L'angioscanner a visualisé la membrane intimale décollée, précisé l'extension de la dissection, chiffré l'ectasie aortique dans les 3 cas et a monté des signes de gravité à type d'épanchement péricardique. L'angioscanner constitut une alternative fiable dans le diagnostic de DA. Elle est plus sensible que l'échographie transthoracique, moins opérateur dépendant que l'échographie transoesophagienne et plus facile à réaliser qu'une aortographie

[Fronto-ethmoïdal encephaloceles in Dakar. Report of 9 cases]. / Les céphalocèles fronto-éthmoïdales à Dakar: a propos de 9 cas.

A retrospective study of 9 cases of fronto-ethmoïdal encephaloceles is reported. Cases have been gathered from the files of Dakar University Neurosurgical Unit. Fronto-ethmoïdal encephaloceles were about 9.8% of all encephaloceles. In all the cases the exit hole from the anterior cranial fossa is at the site of the foramen caecum. The location of the tumor was fronto-nasal in seven patients and naso-ethmoïdal in two. The cranio-facial deformity consisted of increase of local volume and a lateral displacement of medial canthus in six cases, a down ward drift of the tip of the nose in two cases and one case of orbital hypertelorism. Eight cases were meningo-encephaloceles and the last a meningo-encephocystocele. Diola was the most ethnic group involved. All patients have been operated by a simple neurosurgical procedure without obstruction of the cranial defect nor bony displacement. In five cases mental and aesthetic results were good when operation was done during the first year of live. The authors stress early surgical treatment for fronto-ethmoïdal encephaloceles.

[Commissural agenesis associated with inter hemispheric cyst]. / Agénesie commisurale associée a un kyste inter hemisphérique.

The Objectives of this study were to Report a rare malformation and to try to understand the embryological origin of such lesion. We reported the case of an eight-month-old female infant, without any particular past medical history, who was refered for seizures and vomiting. The examination revealed normal anthropometric constants, a soft painless and renitent tumefaction of the vertex and a psychomotor delay. Skull x-ray showed a parietal lacuna opposite to an opacity. Ultrasound scan showed an encephalocystocele communicating with dilated ventricles. CT x-ray revealed a single ventricle with an important back and upper extension, which evokes a cystic formation of the centre line. The existence of this cystic formation suppose an agenesis of diencephalic and telencephalic structures notably commissural. Interest of such observation is in its rarity, its complexity, the possibility of its antenatal diagnosis and in the etiopathogenic discussions that she gives rise to.

[Growing skull fracture with cerebral and ventricular hernia after brain trauma]. / Fracture evolutive avec hernie cérébrale et ventriculaire post-traumatique.

Authors report the case of 3 years old boy. He represented a severe head injury with dura mater damage and skull fracture. He has been operated and few years later, he present a vault tumefaction. CT scan show a very large bone defect, a cerebral and ventricular hernia. Mecanism and causal factors are discussed.

[Arachnoid cyst with orbital meningocele: a case report]. / Kyste arachnoidien avec meningocele orbitaire: à propos d'un cas.

Arachnoïd cysts are rare. 1% of cranial neoformation. We report the case of a six years old boy who presented an arachnoid cyst impressive by its compressive phenomena. Present complaint are macrocrania and right orbitary tumor. Tomodensitometry reveal a huge liquid collection which starts from the right cerebellopontine angle to the frontal region and invading the orbital cavity. In addition we have a thalamic fusion Its congenital origin is obvious. The associated malformations seem to be related to an anomaly of the centre line. This case point out the primum movens of malformations which are often complex and whose antenatal diagnosis is rare in our countries

[Contribution of mammography and echography to the diagnosis of breast cancer in Dakar: apropos of 25 cases]. / Apport de la mammographie et de l'échographie dans le diagnostic du cancer du sein à Dakar: à propos de 25 cas.

The authors studied mammographic features of 25 patients with malignant breast disease. 24 of them had ultrasonographic (US) exploration. The study appreciates epidemiological, mammographic and US aspects; It also appreciates the correlation between images and histology. The mean age is 40. Six women (26%) had family history cancer. The mean reason of the exploration is a mass in 76%. At mammography, contours of cancerous opacities are irregular in 56%, regular in 16%. In 20%, the cancer showed no opacity. At US, we find a lack that appears irregular in 48%, regular in 24%, without traduction in 4%, non precised in 24%. Mammography sensitivity was 80%, false negative rate 28% and false positive rate 8% against respectively 96%, 32% et 12% for echography. This study shows that US is more sensitive but less specific than mammography. However, we recommend the use of mammography and echography together because in Senegal, cancer happens at an earlier age at with breast is easier to analyze at US.

[Caudal regression syndrome associated with Klippel-Feil syndrome]. / Syndrome de régression caudale associé à un syndrome de Klippel-Feil.

In this paper, one case of syndrome of caudal suppression associated with a syndrome of Klippel Feil is discussed. It concerned a 14 years old boy, born form a diabetic mother with congenital abnormalities such as: urinary incontinence, facial dysmorphia, a short neck, an arachnodactylia, a lumbar kyphosis, a permanent flexion of the knee, a kalipe cavus, the spine, a partial agenesis of the third and fourth lumbar vertebrae a total agenesis of the fifth and sacrum; This syndrome is infrequent and the pathophysiological mechanisms are still under discussion and no therapeutic strategy is proposed. This case offers an opportunity to the authors to make review of the medical literature on this subject. They emphasized on the interest to look for a vertebro-medullary malformation every time a child comes to us with walking problem or enuresia, this fact should be enforced when mother is diabetic.