Congenital Arhinia: A Neonatal Case Report.

Congenital arhinia or nasal absence is a rare condition, with only less than 100 cases published in the literature to date. It is a rare condition that causes respiratory distress during the neonatal period. Although stabilization of the airway is the priority, management is not clearly defined, given the rarity of the malformation. We report a case of arhinia in a female newborn and briefly review the literature.

Management of esophageal atresia and early predictive factors of mortality and morbidity in a developing country.

The aim of this study is to investigate management and outcome in esophageal atresia (EA) and to identify early predictive factors of morbidity and mortality in a developing country. Charts of neonates with repaired EA from 2007 to 2016 were reviewed. Patients' characteristics, operative details, and postoperative outcomes were collected. Statistical analyses were performed to identify predictors of complicated evolution. Forty-two cases were collected. There were 14 girls and 28 boys. Only one patient had antenatal diagnosis (2.3%). The mean gestational age was 38 weeks. Nine patients (21.4%) weighed less than 2.5 kg. Seventeen (40.4%) patients had associated malformations most commonly cardiac (9/17). Thirteen patients had delayed diagnosis (30.9%). Thirty-nine (92.8%) patients underwent primary esophageal anastomosis. Overall survival was 76.2%. Nineteen patients (57% of survivals) had complicated evolution before the age of one year and 15 patients (46.8% of survivals) developed complications after the age of one year. Perinatal variables associated with mortality were prematurity (p = 0.004, OR = 5.4, IC95% = [1.13-25.80]), low birth weight (p = 0.023, OR = 7, IC95% = [1.38-35.47]), cardiac malformations (p = 0.006, OR = 10.5, IC95% = [2.03-54.27]) and delayed diagnosis (p = 0.005, OR = 10.11, IC95% = [2.005-50.980]). Variables associated with short-term and middle-term complications were duration of intubation (p = 0.019, OR = 0.118, IC95% = [0.019-0.713]) and the presence of short-term complications (p = 0.016, OR = 7.33, IC95% = [1.467-36.664]) respectively. These factors may be used to identify patients who will benefit from more intensive follow-up program.

[Primary Sjögren syndrome in a child]. / Syndrome de Goujerot-Sjögren primitif de l'enfant : à propos d'un cas.

Sjögren syndrome is uncommon in children and occurs most often in association with autoimmune diseases (secondary Sjögren syndrome). We describe the clinical and biological features of a 7-year-old girl with primary Sjögren syndrome revealed by recurrent parotiditis. CASE REPORT: A 7-year-old girl was referred for investigation of multiple episodes of parotid swelling since age 4 years, without systemic symptoms. The examination was unremarkable except for enlarged and painless parotid glands. Laboratory investigations and labial salivary gland biopsy revealed Sjögren syndrome without associated disease. Hydroxychloroquine was prescribed with clinical improvement. CONCLUSION: Recurrent parotiditis in children is an uncommon condition. The onset of parotid swelling at 5 years or over deserves screening for disimmune disorders, sarcoidosis, or Sjögren syndrome. Diagnosis of Sjögren syndrome is based on diagnostic criteria.

[Tuberculosis prevention]. / Prévention de la tuberculose.

UNLABELLED: Tuberculosis prevention is classically based on early detection of potential contagious cases and their effective treatment. But due to new parameters such as migration flows around the world, the emergence of Mycobacterium tuberculosis resistant strains and the increase of the population at risk, screening should be more active and target those who are more vulnerable to developing the disease. Traditional screening methods such as chest X-ray and tuberculin skin test, due to their high sensitivity and low cost, remain valid especially in populations with a high prevalence of the disease. The interferon-gamma release assays (IGRAs) seem to be very useful in immunodeficient patients with prior BCG vaccination. The treatment of subjects at high risk of developing active tuberculosis with a daily isoniazid self-administrated dosage for a period of 9 months is a prevention measure not only at the individual level but also at the collective one. All prevention interventions should be part of a national program concordant with the guidelines of the WHO Stop TB program that recommend a universal access to quality diagnosis and treatment focused on the patient. OUTLOOK: New methods of detection based on gene amplification would better suit to detect tuberculosis in immunodeficient patients and identify treatment-resistant strains. The development of the third part of the Stop TB project would reduce the morbidity and mortality of this disease by 2025. CONCLUSION: The prevention of tuberculosis has been a major epidemiological challenge around the world and is continuously improving to adapt to the evolving disease.

[Axonal neuropathy revealing pleural lymphoma as a long-term outcome of therapeutic pneumothorax]. / Neuropathie axonale révélant un lymphome pleural primitif sur séquelles de collapsothérapie.

Peripheral neuropathy is a rare presenting feature of malignant lymphoma, and commonly associated with diagnostic delay. We report a patient with axonal neuropathy revealing primary pleural lymphoma as a late outcome of pulmonary tuberculosis. A 72-year-old-man with a past medical history of pulmonary tuberculosis presented with a 5-month history of axonal neuropathy. The patient complained of chest pain, altered general status. Chest computed tomography (CT) showed pleural tumour invading the chest wall and CT-guided pleural biopsy revealed a B-cell lymphoma. Chemotherapy was not started in consideration of the poor performance status of the patient. Despite corticosteroids, the peripheral neuropathy worsened and the patient died 2 months after the diagnosis of lymphoma. To our knowledge, no previous case of peripheral neuropathy revealing pleural lymphoma has been reported. The diagnosis of lymphoma must be entertained in the presence of peripheral neuropathy of unknown aetiology. Neuropathy associated to lymphoma results from various mechanisms and is characterised by clinical polymorphism. Their prognosis depends on the mechanism of the neuropathy and the severity of the lymphoma.

Atypical form of melorheostosis improved by pamidronate.

BACKGROUND: Melorheostosis is a rare chronic bone disease of unknown etiology that often affects a single limb. AIM: Report a new case of melorheostosis of the ribs improved by pamidronate infusions CASE: A 36-year-old man without any medical history was admitted for a history of one month painful tumefaction on the 7th left rib. The diagnosis of melorheostosis of the rib and the tibia was made. Patient was treated by pamidronate infusions with useful and satisfactory outcome.

[Soft tissue metastasis revealing an asymptomatic bronchial adenocarcinoma]. / Métastase musculaire squelettique révélatrice d'un adénocarcinome bronchique.

Skeletal muscle metastases from non-small-cell lung cancer are uncommon. We report a case of lung adenocarcinoma disclosed by metastatic dissemination to a forearm muscle. A 46-year-old man consulted for a painful mass of the right forearm. Ultrasonography and computed tomography revealed a heterogeneous collection in the forearm invading the cortex of the humerus. An excisional biopsy of the right forearm showed an infiltration of the muscle with metastatic adenocarcinoma. Immunohistochemical patterns suggested the pulmonary origin. Chest x-ray was normal. Bronchoscopy revealed an endobronchial mass that was confirmed by biopsy to be an adenocarcinoma. The lung tumor was staged T2N0M1. The patient has received local radiation therapy and chemotherapy. After eighteen months, the disease progressed but without local muscular recurrence. Skeletal muscle metastases from lung cancer are rare and although their prognosis is poor, local treatment may be worthwhile.

[Primary pulmonary angiosarcoma]. / Angiosarcome pulmonaire primitif.

Pulmonary angiosarcoma is an uncommon vascular and usually secondary tumor. Only a few primary cases of pulmonary angiosarcoma have been described. We report a case of primary pulmonary angiosarcoma in an adult man who presented with hemoptysis. Chest x-ray film and chest CT showed a right para-cardiac opacity associated with diffuse alveolar consolidation of the right basal lobe. Right inferior lobectomy has been performed. Pulmonary angiosarcoma was diagnosed on histological and immuno-histochemical studies of the operative specimen. The primitive character was retained after ruling out all other tumor localizations. The clinical outcome was rapidly fatal. This observation is added to the other rare cases published of primitive pulmonary angiosarcoma. It confirms the poor prognosis and the extremely hemorrhagic nature of this tumor. Isolated necrotic parenchymatous mass was an original radiological pattern observed in this patient.

[Bronchiectasis in a patient with ulcerative colitis]. / Bronchectasies chez un patient porteur d'une rectocolite ulcéro-hémorragique.

Bronchopulmonary involvement is uncommon in ulcerative colitis. Bronchiectasis is a rare manifestation of the disease. We report a case of a 65-year-old patient with ulcerative colitis in whom we diagnosed bronchiectasis. The evidence of a relationship between bronchiectasis and ulcerative colitis was established on the basis of 3 criteria: the late occurrence of bronchiectasis in a patient without pulmonary history, their appearance after the ulcerative colitis developed and their improvement after inhaled corticosteroid treatment. This observation points out that ulcerative colitis investigations should be extended to the respiratory structures. The respiratory involvement is not always concomitant with the bowel disease. This observation suggests the efficiency of the inhaled corticosteroids in this disease.

[Sub-pleural lipoma: apropos of a case]. / Le lipome sous-pleural: à propos d'un cas.

Lipomas are rarely observed in a subpleural localization. Clinical signs are uncommon and most are an incidental discovery at x-ray. We report a case of an incidentally discovered lipoma in the subpleural area observed in a 56-year-old patient. Physical examination showed normal respiratory function. An extrapulmonary intrathoracic opacity situated in the right axillary area was observed on standard chest x-ray. Computed tomography established the diagnosis of a subpleural fatty mass. This case draws attention to this uncommon localization of lipomas and illustrates the contribution of computed tomography for diagnosis. The CT pattern allowed us to avoid transmural or surgical biopsy.

[Disseminated tuberculosis in non-immunocompromised host: three case reports]. / Tuberculose disséminée sur terrain non immunodéprimé: à propos de trois cas.

INTRODUCTION: Disseminated tuberculosis, i.e., tuberculosis involving lung, liver, spleen, bone marrow and lymph nodes is rare (2.8%), particularly when immunocompromised diathesis is lacking. EXEGESIS: We report three cases of disseminated tuberculosis confirmed by bacteriology or histology, which occurred in non-immunocompromised patients. Disease evolution under antituberculous treatment was favorable in two cases and fatal in the third one. CONCLUSION: Disseminated tuberculosis must be suspected when miliary pulmonary lesions are associated with hematologic abnormalities, even in non-immunocompromised host. Early treatment is mandatory to avoid fatal outcome.

[Ion transports across the respiratory epithelium]. / Les transports ioniques à travers l'épithélium respiratoire.

The electrolytes and water transport across the respiratory epithelium have aroused particular interest for 20 years ago, with regard to the essential role they play in the regulation of the bronchial mucus composition and volume. The development of new in vitro and in vivo, techniques, allow better knowledge of these transport systems and their regulation. Transport involves two main ionic movements: chloride secretion and sodium absorption by the epithelial cells, associated with parallel water movements. In cystic fibrosis, the modification of bronchial mucus results from a defective protein-kinase dependent regulation of chloride secretion. This defect blocks water and chloride secretion by the respiratory epithelium causing dehydration of the mucus.