Gastrointestinal stromal tumour of the rectum: a report of two cases

Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract in adults, although rectal localisation of these tumours is very rare. We report here two cases of rectal stromal tumours in a 77-year-old woman and a 65-year-old man, confirmed by histology and immunohistochemistry. Surgery for rectal GIST patients is the standard treatment and adjuvant imatinib, a tyrosine kinase inhibitor, is indicated for GISTs with a high risk of malignancy, as well as in the case of metastatic or unresectable tumours.Pan African Medical Journal 2012; 12:1

Le syndrome de Stewart-Treves compliquant un lymphœdème chronique idiopathique

Le syndrome de Stewart-Treves (SST) est une entité rare, correspondant à un angiosarcome cutané compliquant un lymphoedème chronique. Il est de mauvais pronostic. Stewart et Treves ont rapportés en 1948, les premiers cas d'angiosarcome secondaire à un traitement du cancer du sein. Ce terme s'est généralisé pour regrouper l'ensemble des cas de lymphangiosarcome sur lymphoedème d'origine congénital héréditaire ou non héréditaire, post-traumatique ou post-infectieux. Le SST sur un lymphoedème idiopathique reste exceptionnel. Nous rapportons le cas rare d'une patiente présentant un lymphoedème chronique primitif idiopathique des quatre membres évoluant depuis l'adolescence et qui a développé un SST du membre supérieur droit. Elle a subi une amputation à mi- bras vu le caractère très évolué de la tumeur

Un cas d’angiosarcome de l’oreille externe

L’angiosarcome de l’oreille est une tumeur maligne très rare, et localement très agressive. Elle représente 4-5% des sarcomes cutanés et moins de 1% de tous les sarcomes. Notre objectif est de décrire et de discuter les modalités diagnostiques et thérapeutiques de cette tumeur maligne. A travers le cas clinique d’une patiente âgée de 31 ans reçue pour une masse bourgeonnante du pavillon de l’oreille gauche. Le scanner était en faveur d’une tumeur du pavillon d’oreille avec envahissement de la parotide homolatérale. Le diagnostic histologique était en faveur d’un angiosarcome. Le traitement a consisté en une chirurgie d’exérèse complète suivie d’une radiothérapie adjuvante. Elle est en rémission compléte avec un recul d’une année.Pan African Medical Journal 2016; 24:17

Cancer du sein chez l’homme: à propos de 40 cas et revue de la littérature

Le cancer du sein chez l'homme est une affection rare représentant environ 1% de tous les cancers du sein et moins de 1% de l'ensemble des néoplasies masculines. L'objectif de notre étude est de décrire les différents aspects cliniques, histologique, pronostic et thérapeutiques de cette tumeur rare afin de contribuer à l'amélioration de la prise en charge de cette affection. Il s'agit d'une étude rétrospective portant sur 40 patients colligés au Centre Mohamed VI pour le traitement des cancers de Casablanca de Janvier 2000 à Décembre 2012. L'âge médian a été de 62 ans, le délai moyen de consultation a été de 12 mois, l'autopalpation d'un nodule péri aréolaire a été le principal motif de consultation dans 90% des cas. Le carcinome canalaire infiltrant a été le type histologique prédominant dans 90% des cas. La prise en charge thérapeutique multimodale a consisté en une mastectomie suivie d'un traitement adjuvant à type de chimiothérapie, radiothérapie et/ou hormonothérapie en fonction du stade de la tumeur et des caractéristiques histologiques. Le suivi moyen a été de 38 mois, l'évolution a été caractérisée par une rémission complète chez 16 patients (soit 40%), rechute locale chez 3 patients (soit 7.5%) et par une rechute métastatique chez 5 patients (soit 12.5%). Le site métastatique le plus fréquent a été l'os (62%), suivi par le poumon et le foie. Le décès était survenu chez 10 patients (25%). Le cancer du sein chez l'homme présente des similitudes avec le cancer mammaire chez la femme. Mais il présente aussi beaucoup de particularités, d'où l'intérêt de mener des études prospectives randomisés à plus large échelle afin d'améliorer la prise en charge et le pronostic de cette affection dont l'impact psychosociale est considérable

Axillary apocrine carcinoma skin: report of a case

The cutaneous apocrine carcinomas are malignant tumors rare adnexal, slowly and preferably located in the axillary growth. A girl aged 24 with no particular medical history was addressed to a right axillary mass slowly evolving for two years, associated with pain in the right upper limb. The echo mammogram had shown a mass in the axilla and supraclavicular and axillary MRI had objectified mass axillary measuring 171mm. Pathological examination with immunostaining was in favor of apocrine carcinoma. The cutaneous apocrine carcinomas are well-known in the mammary glands, but it is difficult to morphologically distinguish between breast cancer and apocrine carcinoma.Pan African Medical Journal 2016;

Targeted gene sanger sequencing should remain the first-tier genetic test for children suspected to have the five common X-linked inborn errors of immunity

DATA AVAILABILITY STATEMENT : The original contributions presented in the study are included in the article/Supplementary Material. Further inquiries can be directed to the corresponding author.To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott–Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.The Hong Kong Society for Relief of Disabled Children and Jeffrey Modell Foundation.http://www.frontiersin.org/Immunologyam2023Paediatrics and Child Healt

Tumeur phyllode chez une jeune adolescente de 12 ans: à propos d’un cas et revue de la littérature

Les tumeurs phyllodes du sein sont des tumeurs très rares et restent exceptionnelles chez les enfants et les adolescents, leurs traitement est basésur la chirurgie et la radiothérapie, avec un bon pronostic. Nous rapportons le cas d'une adolescente âgée de 12 ans, qui s'est présentée pour unemasse du sein gauche. Le diagnoctic d'une tumeur phyllode a été retenu après bilan et histologie. Le traitement a consisté en une tumorectomielarge sans traitement adjuvant ; avec une bonne évolution à un recul de deux ans. Phyllodes tumors of the breast are very rare and are exceptional in children and adolescents; their treatment is based on surgery and radiotherapy,with a good prognosis. We report the case of a 12-year old teenage girl presenting with a mass in the left breast. The diagnosis of a phyllodestumor was confirmed on the basis of clinical, imaging and histological examinations. Treatment consisted of a large tumorectomy without adjuvanttherapy, with good evolution during a 2-year follow-up

Lead poisoning in children: a case report

Lead colic is a rare cause of abdominal pain. The diagnosis of lead poisoning is most often mentioned in at risk populations (children, psychotic). We report the case of a 2 year old child that was presented for acute abdomen. Abdominal plain radiograph showed multiple intra-colonic metallic particles and suggested lead poisoning diagnosis. Anamnesis found a notion of pica and consumption of peeling paint. Elevated blood lead levels (BLL) confirmed the diagnosis. The lead poisoning is a public health problem especially in children, but its manifestation by a lead colic is rare and could simulate an acute abdomen table.The Pan African Medical Journal 2016;2

Epidemiology of pertussis in Casablanca (Morocco): contribution of conventional and molecular diagnosis tools

Abstract Background Pertussis, a vaccine preventable disease, is still responsible of significant morbidity and mortality around the world, mostly in newborns. The aim of the present study was (1) to introduce pertussis surveillance in the major pediatric hospital of Casablanca (2) to analyze the prevalence of pertussis among children under 14 years of age and their entourage in Casablanca, Morocco. Methods This is a prospective and non-case controlled study, including children suspected of Pertussis admitted at the Abderrahim Harouchi Pediatric Hospital in Casablanca, from January 2013 to June 2015. Nasopharyngeal samples were obtained for Bordetella spp. culture and Real time PCR detection (RT-PCR) with specific primers of Bordetella spp., B. pertussis, B. parapertussis and B. holmesii. The detection of Bordetella spp. was also performed in some household contacts of the children suspected of pertussis. Results During the 2.5-years period, a total of 282 samples were collected from hospitalized children (156) and in some of their contacts (126). Among 156 samples from the children (from whom 57% were under 2 month of age), Bordetella DNA was detected in 61% (96/156) by RT-PCR. Among these positive samples, 91.7% (88/96) corresponded to B. pertussis DNA. Furthermore, in 39.5% (38/96) of the Bordetella positive samples, B. holmesii DNA was also detected. B. parapertussis DNA was detected in only one sample (1/156). Out of the 156 samples collected from the hospitalized children, only 48 were tested by culture, and 4 B. pertussis were isolated (8.3%). Among the 126 samples from the contacts of the children, mostly mothers (115 cases), Bordetella DNA was detected in 47% (59/126), 90% (53/59) being B. pertussis DNA. Moreover, B. holmesii DNA was also detected in 18.6% (11/59) of the Bordetella positive samples, and coexistence of B. pertussis and B. holmesii DNA in 36.5% (35/96). Two B. pertussis were isolated by culture performed on 43 samples of the contacts of the children (4.6%). Conclusions This study highlights the circulation of B. pertussis but also of B. holmesii in Casablanca-Morocco with a high proportion of co-infections B. holmesii/B. pertussis in infants and their mothers, indicate that infection of non-vaccinated infants could be more associated with young parents. Moreover, the RT- PCR provides a sensitive and specific diagnosis of B. pertussis infections and distinguishes it from other Bordetella species, and is therefore suitable for implementation in the diagnostic laboratory