The congenital central hypoventilation syndrome (CCHS): a late presentation

BACKROUND: The congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a rare autosomal dominant disease, characterized by disorders of the autonomic nervous system, with abnormal ventilatory responses to hypercapnia and hypoxia. PHOX2B has been identified as the major gene causing CCHS. It results from polyalanine repeat expansion mutations. It typically presents in the newborn period but some cases have been described in adults (late onset CCHS) reflecting the variable penetrance of PHOX2B mutations. CASE REPORT: A 48 year-old woman presented, after ovarian cyst surgery, with severe hypoventilation requiring intubation. Arterial blood gases revealed a PaO2 of 6.6kPa (50mmHg), a PaCO2 of 10kPa (80mmHg) and a pH of 7.22. The past medical history revealed nocturnal symptoms for a few years. These included apnoeas, fitful sleep and awakening with headaches. Physical examination, pulmonary function tests, lung tomography and magnetic resonance imaging of the brainstem were all normal. Polysomnography revealed numerous central and obstructive apnoeas and hypopnoeas, with severe hypoxaemia and hypercapnia. Hypoxic and hypercapnic stimulation tests showed no adaptation of the ventilatory responses. Genetic analysis showed a heterozygous five alanine expansion mutation of the 20-residue polyalanine tract in exon 3 of the PHOX2B gene. CONCLUSION: The diagnosis of late onset CCHS should be considered in patients with unexplained hypoventilation, and physiological evaluation should be undertaken to document the abnormal ventilatory responses. The presence of a PHOX2B mutation confirms the diagnosis.     

Incidence of pertussis in subjects aged 50 years and older in France in 2013–2014

Objective

To assess the incidence of pertussis (whooping cough) in subjects aged 50 years and older in France.

Œsophagite à éosinophiles : une cause rare de dysphagie

Eosinophilic esophagitis is an unrecognized and emerging entity. Its incidence increases with allergic disorders. A 29-year-old man presented with a 4-year history of intermittent and paroxysmal dysphagia. The triad including allergy, young age, and impaction of foreign bodies, combined with a chronic dysphagia is almost pathognomonic of eosinophilic esophagitis. Endoscopic esophageal features can be diverse, so systematic esophageal biopsies are required. Diagnosis is established with the demonstration of an eosinophilic infiltrate with a cell count exceeding 15 eosinophils per high power field (×400). First line therapy includes swallowed topical corticosteroids and removal of an allergic cause, when it could be identified.     

Le trouble déficit de l’attention/hyperactivité à l’âge adulte : concept, tableau clinique, stratégies diagnostiques et thérapeutiques

Attention Deficit/Hyperactivity Disorder (ADHD) was considered, for a long time, as a disorder affecting children and adolescents, and was most often identified in the early development. It was less known that ADHD can be found in adults. Several arguments (clinics, neuropsychology, neuroanatomy, genetics, longitudinal studies and pharmacology) confirm that ADHD persists in adulthood for most of children and should be still treated, as long as the disorder leads to impairments. Nevertheless, ADHD in adults is considerably misdiagnosed in France. In fact, this can be explained by controverse, by its difficulty to be diagnosed, by a lack of consideration of developmental aspects… Diagnosis is based on clinical aspects, developmental and familial histories, adaptative strategies and functional alteration. Clinical interview put forward particularities in adulthood: decreasing (or change) of hyperactivity and impulsivity, persistance of attentional deficit, increasing of dysexecutive syndrome because demands in planification, social relationships and emotional management are often higher when people grow up. Several domains can be impaired: raising children, driving cars, working, taking care of themselves, daily managing… One of the most difficult issue about adult ADHD concerns criteriology. Although some authors (Wender, Hallowell and Ratey) have developped criteria based on more specific features of adulthood than those described in DSM-IV, criteria have still to be discussed: age-of-onset, number of symptoms required… Assesment scales can help clinicians to evaluate ADHD symptoms and impairments of their adult patients. Main scales are: Conners Adult ADHD Rating Scale (CAARS) and Adult ADHD Self-Report Scale (ASRS) for detection, ADHD behaviour checklist and ADHD rating scale IV for diagnosis, Wender Utah Rating Scale (WURS) for retrospective diagnosis in childhood and Brown Attention Deficit Disorder Scale for a better evaluation of executive functions. This evaluation should be completed by neuropsychological testing. The results can confirm the diagnosis and guide the treatment according to the neuropsychological profile. The more salient tasks for the diagnosis of adult ADHD seem to be: Continuous Performance Test (CPT) for selective and sustained attention, Trail making Test part B for cognitive flexibility, Stroop color/word interference test for inhibition capacity, verbal fluency and processing speed in WAIS-R. It is thus extremely important: (i) to recognize that ADHD affects also adults, at high rate (4% of general population), (ii) to keep in mind that developmental particularities make the disorder more “cognitive” than “behavioral”, (iii) to clarify the link between adult ADHD and the others psychiatric disorders, especially bipolar disorder, (iv) and to know that most of the adults with ADHD can be successfully treated by psychostimulants and psychotherapy, as in childhood. In France, only few teams evaluate ADHD in adulthood. So, one of the purpose of our article is to enable a better consideration of adult ADHD in our country.     

Somatische Stammzellen Grundlagen, Konzepte und Herausforderungen

Adult stem cells are multipotent cells that have the ability to self-renew and to differentiate into highly specialized cells. Differentiation of specific cells is not limited to early embryonic development. It also takes place within the adult organism. Adult stem are found in tissues and organs showing a high turn-over rate such as blood, skin or intestine. Moreover, tissues like liver or skin are able to regenerate after injury, indicating the presence of stem cells within these organs. Whereas blood stem cells are already used in transplantation medicine, the biology and therapeutic potential of stem cells isolated from other tissues are still under investigation. Currently, research is focused on the identification and analysis of the factors regulating stem cell self-renewal and differentiation. A better understanding of stem cell biology certainly will lead to new therapeutic concepts, i.e. the use of stem cells and/or their derivatives as replacement cells to treat diseases including for example diabetes, Parkinson's disease, spinal cord injury, stroke, burns, rheumatoid arthritis.     

Lemierre's syndrome

Lemierre's syndrome is a rare disease, mostly affecting young adults in good health, which can lead to significant morbidity and mortality. We report one case with favourable outcome and clinical features stereotypics: angina, septic thrombosis of the internal jugular vein, pulmonary septic metastasis, Fusobacterium necrophorum on blood cultures. Antibiotic therapy targeting anaerobes has been rapidly initiated and maintained 4-6 weeks. The anticoagulation has been maintained 4 weeks.