ALK-Negative Inflammatory Myofibroblastic Tumor: A Challenging Case in a Premature Newborn.

Inflammatory myofibroblastic tumors (IMT) are rare borderline tumors with a variable histological appearance that may mimic multiple mesenchymal tumors. We present a rare case of a challenging abdominal mass discovered in a premature newborn. The histopathology showed a bland myofibroblastic proliferation associated with an inflammatory infiltrate that was positive for smooth muscle actin and desmin but negative for anaplastic lymphoma kinase (ALK) protein. The diagnosis of an ALK-negative IMT was established. The tumor was partially resected. After six months of follow-up, the residual tumor remained stable, and the patient was asymptomatic. The correct diagnosis and subsequent treatment of ALK-negative IMT require appropriate histopathological, immunohistochemical, and sometimes genetic examination. Further research has to be conducted to help clinicians make an appropriate treatment plan.

L'actinomycose en ORL : à propos de 7 cas

Objectif :L'actinomycose est une infection rare due à une bactérie anaérobie à Gram positif saprophyte des cavités naturelles de l'homme. Le but de ce travail est d'illustrer les difficultés diagnostiques de cette pathologie et de montrer l'importance de l'examen anatomopathologique dans ce cadre.Matériel et méthodes :Il s'agit d'une étude rétrospective de 7 cas d'actinomycose colligés entre les années 1998 et 2015.Résultats :L'étude a intéressé 4 femmes et 3 hommes d'âge moyen de 42 ans (16 à 70 ans). Tous les patients n'avaient pas d'antécédents odontogéniques ni traumatiques. Les localisations étaient nasopharyngées dans 4 cas et sub-mandibulaires dans 3 cas. La symptomatologie était peu spécifique. Une rhinorrhée purulente était notée dans 3 cas, une obstruction nasale bilatérale dans 2 cas, une haleine fétide dans 1 cas et une anosmie dans 1 cas. Le motif de consultation était une tuméfaction submandibulaire dans 3 cas. L'échographie et le scanner n'ont pas aidé au diagnostic positif d'actinomycose. L'examen bactériologique était négatif dans tous les cas. Le diagnostic préliminaire d'actinomycose n'a été évoqué par notre équipe dans aucun cas. Le diagnostic était confirmé en postopératoire par l'examen anatomopathologique d'un prélèvement biopsique dans tous les cas. Il avait mis en évidence des grains actinomycosiques. L'évolution était dans tous les cas favorable après un traitement à base de pénicilline G associé à la chirurgie.Conclusion :L'actinomycose peut prendre des aspects trompeurs prêtant à confusion avec des affections tumorales ou infectieuses à pyogènes. Aucune imagerie ne peut fournir des informations spécifiques pour le diagnostic. Les résultats négatifs des examens bactériologiques doivent être interprétés avec prudence. L'examen anatomopathologique est d'un grand apport pour poser le diagnostic

Spontaneous cholesteatoma of the external auditory canal: the utility of CT.

Spontaneous external auditory canal (EAC) cholesteatoma is a rare disease. The symptoms are nonspecific. It is diagnosed by clinical examination and radiological investigation. The clinical examination alone is often insufficient for accurately assessing spread of the cholesteatoma into the temporal bone, meaning cross-sectional imaging modalities are required, and specifically computed tomography. We report three cases of spontaneous cholesteatoma of the external auditory canal. All of our patients underwent surgery. In two cases, the cholesteatoma was restricted to the external auditory canal, while in one case, it was complicated by a fistula with the lateral semicircular canal. Good anatomical and functional results were obtained in all three cases, with the external auditory canal patent and a good calibre on completion.

Functional defects of peripheral regulatory T lymphocytes in patients with progressive vitiligo.

Auto-reactive cytotoxic T lymphocytes play a key role in the progressive loss or destruction of melanocytes in vitiligo but the mechanism underlying the loss of self-tolerance is unknown. A deregulation of regulatory T-cell biology has recently been suggested. The analysis of the suppressive effects of peripheral T regulatory cells in vitiligo patients revealed a functional defect in seven of 15 cases. This defect was strongly correlated with disease activity. The evaluation of the percentage of peripheral regulatory T lymphocytes did not reveal any intrinsic quantitative defect. Yet, a decrease in the percentage of such cells was noted in patients with progressive forms, suggesting a recruitment of regulatory T cells from the peripheral blood to the site of injury. This was further corroborated by the significant increase of Forkhead box P3 expression in the vitiliginous skin of patients. Our data support the involvement of a functional defect of peripheral regulatory T cells in the pathogenesis of vitiligo and open new possibilities to advance therapeutic approaches.

[Congenital nasal pyriform aperture stenosis]. / Sténose congénitale de l'orifice piriforme.

INTRODUCTION: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare and an unusual cause of airway obstruction in newborns. OBSERVATION: We report the case of a female neonate delivered by C-section at 39 weeks of amenorrhea for hydramnios and macrosomia. She presented with mandibular retrognathia, nasal saddling, submucous cleft palate, and loud mouth respiration. She presented with cyanosis every time feeding was attempted. CT revealed permeable choans with a single central incisor and nasal pyriform aperture stenosis. Nasal respiration returned to normal progressively after 56 days of hospitalization. The status was unchanged at 5 months. DISCUSSION: CNPAS is a rare cause of congenital nasal obstruction. It is sometimes associated to a median incisor syndrome. The diagnosis should be made as early as possible for an optimal management. Cyanosis and swallowing disorders may be lethal consequences. Associated abnormalities should be screened for with TDM or MRI. The treatment depends on the severity and may be surgical for a severe stenosis. The prognosis is good if no severe malformation or mental retardation is associated.

[Pulmonary function in children after neonatal meconium aspiration syndrome]. / Fonction respiratoire des enfants ayant des antécédents d'inhalation méconiale.

BACKGROUND: Meconium aspiration syndrome is a disease of the newborn mature or post mature. The acute pulmonary consequences can be extremely severe. In the few studies of the long-term pulmonary sequelae, it seems that certain children surviving meconium aspiration syndrome keep an obstructive syndrome. The aim of our study was to assess long term respiratory residual damage from meconium aspiration syndrome. METHODS: During a seven-year period going from 1994 to 2000, we reviewed the files of children hospitalized in neonatology department of Sfax for meconium aspiration syndrome. The children who were convoked (group M: n=27), underwent spirometry, followed by an exercise stress. An age matched control group (group C: n=23) of healthy children was investigated in the same way. RESULTS: The group M comprised 15 boys and 12 girls aged four to 11, an average of 7+/-1.9 years. With the study of the respiratory function, we did not find an obstructive syndrome. Spirometry revealed a total pulmonary capacity in an average of 133+/-55.65% of theoretical (group M) versus 105.5+/-27.96% of theoretical (group C) (P<0,01), testifying to alveolar hyperinflation. Spirometry fulfilled 5, 10 and 15 min after exercise showed a FEV1 reduction of respectively 8.5 versus 2 (P<0.05); 9.5 versus 3 (P<0.01) and 10.5 versus 4 (P<0.05). CONCLUSION: Children surviving meconium aspiration syndrome tend to develop alveolar hyperinflation and airway hyperreactivity to exercise.

[Autosomal recessive renal tubular dysgenesis: morphologic and genetic study of 2 cases]. / Dysgénésie tubulaire rénale autosomique récessive: étude morphologique et génétique de 2 nouveaux cas.

Renal tubular dysgenesis (RTD) is a rare and severe nephropathy characterized by persistent fetal anuria leading to oligohydramnios with the Potter sequence, and perinatal death. The diagnosis is based on the histological finding of absence or paucity of proximal tubules. A consanguineous family is described in which 2 siblings, born after pregnancies complicated by oligohydramnios were affected with RTD. Patients were small for gestational age at birth. The first patient died after a few hours, the second after a few days of life, with persistent anuria unresponsive to treatment. Histologically, there was marked reduction in the number of proximal tubule sections and no renin was detected by immunohistochemistry. An homozygous mutation of the gene encoding renin was identified in both patients. This study underlines the interest of the histological examination of the kidney for the diagnostic of RTD in anuric fetuses and newborns, and the possibility of mutation analysis of RAS genes for genetic counselling and early prenatal diagnosis.