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Le Touquet – Paris-Plage, France

Robert M.P.,Hopital University Necker Enfants Malades | Robert M.P.,University of Paris Descartes | Plant G.T.,National Hospital for Neurology and Neurosurgery
Neurology | Year: 2014

The year 1917 witnessed the opening of a great debate in neuro-ophthalmology, with Tournay's description of a phenomenon thought to be universal: anisocoria in lateral gaze, due to mydriasis of the abducting pupil and a minor miosis of the fellow one. Through many publications, this phenomenon was soon assessed and confirmed to be physiologic, while the cause of the pupil reaction in lateral gaze was extensively discussed. Cases of abolition and reversal of the phenomenon were also reported in specific clinical situations, such as neurosyphilis, and its study became part of the neuro-ophthalmologic examination. Publications on the phenomenon declined after 1934, with only one publication appearing between 1934 and 1974 (1957). In 1974, the demise of the Tournay phenomenon was secured after 2 pupillographic studies showed it to be rare and marginal. This story is reviewed. Hypotheses are proposed in order to help unfold the controversy; anisocoria in lateral gaze should not be regarded as a myth, nor does it-or only rarely-correspond to a pupil reaction, or noumenon: it can usually be accounted for by a specific optical distortion (apparent without real anisocoria) and hence fits the Kantian definition of a phenomenon. An understanding of Tournay phenomenon is therefore of current relevance to the examination of the pupils to avoid misinterpretation of observed changes in the pupil.

Aiuti A.,San Raffaele Scientific Institute | Aiuti A.,University of Rome Tor Vergata | Bacchetta R.,San Raffaele Scientific Institute | Seger R.,University of Zurich | And 5 more authors.
Current Opinion in Immunology | Year: 2012

Gene therapy has become an attractive alternative therapeutic strategy to allogeneic transplant for primary immunodeficiencies (PIDs) owing to known genetic defects. Clinical trials using gammaretroviral vectors have demonstrated the proof of principle of gene therapy for Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD), but have also highlighted limitations of the technology. New strategies based on vectors that can achieve more robust correction with less risk of insertional mutagenesis are being developed. In this review we present the status of gene therapy for WAS and CGD, and discuss the emerging application of similar strategies to a broader range of PIDs, such as IPEX syndrome. © 2012.

Brousse V.,Hopital University Necker Enfants Malades | Brousse V.,University of Paris Descartes | Brousse V.,Laboratory of Excellence GR Ex | Buffet P.,Laboratory of Excellence GR Ex | And 2 more authors.
British Journal of Haematology | Year: 2014

The spleen has a combined function of immune defence and quality control of senescent or altered red cells. It is the first organ injured in sickle cell anaemia (SCA) with evidence of hyposplenism present before 12 months in the majority of children. Repeated splenic vaso-occlusion leads to fibrosis and progressive atrophy of the organ (autosplenectomy), which is generally complete by 5 years in SCA. The precise sequence of pathogenic events leading to hyposplenism is unknown. Splenic injury is generally silent and progressive. It can be clinically overt with acute splenic sequestration of red cells, an unpredictable and life-threatening complication in infants. Splenomegaly, with or without hypersplenism, can also occur and can coexist with loss of function. Hyposplenism increases the susceptibility of SCA children to infection with encapsulated bacteria, which is notably reduced by penicillin prophylaxis and immunization. Whether hyposplenism indirectly increases the risk of vaso-occlusion or other circulatory complications remains to be determined. © 2014 John Wiley & Sons Ltd.

Valayannopoulos V.,Hopital University Necker Enfants Malades
Handbook of Clinical Neurology | Year: 2013

Lysosomal storage diseases (LSD) are inborn errors of metabolism secondary to lysosomal enzyme defects and are characterized by a progressive accumulation of nondigested macromolecules provoking cellular dysfunction and clinical manifestations. The diagnosis of these diseases can be confirmed easily in most cases by immuno-enzymatic techniques and molecular biology. Even though these enzymatic deficits result in an accumulation of pathological substrates, the underlying mechanisms responsible for the pathogenesis of the disease are not entirely known. Nevertheless, the distribution of the accumulated material determines the affected organs. More particularly in the central nervous system (CNS), neurons are often involved due to the accumulation of storage material and their incapacity of renewal. LSD can be responsible for mental retardation or for a neurodegenerative course in the central nervous system. The peripheral nervous system and the muscle can also be severely impaired. Hematopoietic stem cell transplantation was the first therapy, demonstrating efficacy especially on the neurological involvement of various LSD. Enzyme replacement therapy is now available for Gaucher disease, Fabry disease, mucopolysaccharidoses type I, type II, and type VI, and Pompe disease. Inhibition of the synthesis of the accumulated substrate by small molecules which also have the capacity to diffuse through the blood-brain barrier is another treatment option. New therapeutic strategies using the properties of molecular chaperones and of read-through molecules for nonsense mutations have been studied in vitro and hopefully will soon find clinical applications while intrathecal enzymes are currently studies in clinical trials for MPSII, MPS IIIA and MLD. © 2013 Elsevier B.V.

Leboulanger N.,Hopital University Necker Enfants Malades
European Annals of Otorhinolaryngology, Head and Neck Diseases | Year: 2016

Nasal obstruction is a very frequent symptom in children, with numerous etiologies. Clinical diagnosis is straightforward, but general impact and rare etiologies should be explored for. Complementary examinations are guided by diagnostic orientation. Although not usually a severe condition, nasal obstruction may be life-threatening in neonates and infants. An exhaustive list of etiologies is impossible and would not be useful, but it is worth distinguishing infantile nasal obstruction and nasal obstruction in older children, as causes differ greatly. This is the topic of the present update. © 2015 Elsevier Masson SAS. All rights reserved.

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