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Adenosine deaminase 2 deficiency (DADA2) is a genetic auto- inflammatory disease that most often presents in childhood, but that can also have a late onset in adulthood. It is characterized by vasculitis, mainly of the skin and nervous system most often in the form of a stroke, associated to immunodeficiency and cytopenias. The diagnosis is made by measuring adenosine deaminase 2 (ADA2) enzymatic activity and confirming the presence of mutations in the ADA2 gene by genetic testing. The treatment of choice for the inflammatory phenotype is the early administration of anti-TNFa to avoid the risk of major neurological disabilities. In the case of severe hematological involvement, hematopoietic stem cell transplantation is the only curative treatment currently available.Le déficit en adénosine désaminase 2 (DADA2) est une maladie génétique auto-inflammatoire qui se manifeste le plus souvent à l’âge pédiatrique mais qui peut également débuter à l’âge adulte. Il se caractérise par une atteinte vasculitique responsable d’altérations cutanées et d’AVC associée à une immunodéficience et des cytopénies. Le diagnostic de DADA2 est posé par le dosage de l’activité de l’adénosine désaminase 2 (ADA2) et la confirmation par un test génétique d’une mutation dans le gène

Severe Combined Immunodeficiency (SCID) is one of the most severe forms of Primary Immunodeficiencies (PID) and leads to a potentially fatal course of disease without early and definitive treatment. Adequate management, from the first days of life, can improve the survival and outcome of patients with SCID. This can be achieved through newborn screening (NBS) based on the measurement of T-cell receptor excision circles (TREC). Already present in many countries, this NBS test was introduced in Switzerland in January 2019 on a pilot phase. In addition to the assessment of TRECs, the measurement of kappa recombinant excision circles (KREC) has also been introduced at the same time and allows the identification of severe forms of PID characterized by profound B cell lymphopenia.Le déficit immunitaire combiné sévère (DICS) fait partie des formes sévères d’immunodéficience primaire (IDP) avec un tableau clinique fatal sans traitement précoce et définitif, comme la transplantation des cellules souches hématopoïétiques. Une prise en charge adéquate dès les premiers jours de vie va permettre d’améliorer le devenir des patients avec DICS. Une meilleure prise en charge est devenue possible grâce au dépistage néonatal basé sur la mesure des cercles d’excision des récepteurs des cellules T. Ce test a été introduit en Suisse dans une phase pilote à partir de janvier 2019, avec un dépistage supplémentaire via le dosage des cercles d’excision des recombinants Kappa, qui permet d’identifier des formes graves d’IDP se manifestant surtout par une lymphopénie B profonde.

The outbreak of Coronavirus Disease 19 (COVID-19) following the Severe Acute Respiratory Syndrome-Coronavirus 2 (SARS-CoV-2) viral infection has placed particular pressure on occidental health systems, especially in terms of acute care resources and critical care skills. A number of affected patients subsequently required a rehabilitation process, due to multiple functional limitations, either as a result of an extended stay in intensive care or the consequences of the infection itself. The aim of this article is to report on the Geneva experience in post COVID19 rehabilitation, through 2 clinical vignettes, illustrating the heterogeneity of symptoms and deficits that may be encountered following this disease.L’épidémie de la maladie

After a brain lesion, emotional and behavioral disorders affect the quality of life of the patients and their relatives. This article aims to give some cues to manage three problems chosen for their high frequency: apathy, aggression and depression. It will be reviewed how to recognize, to evaluate and to treat them.Les lésions cérébrales sont fréquemment suivies de troubles émotionnels et comportementaux qui altèrent la qualité de vie du patient et de ses proches. Trois de ces troubles, particulièrement fréquents, sont discutés dans cet article : l’apathie, l’agressivité et la dépression. Une attention particulière sera prêtée à ces symptômes, à leur gravité, ainsi qu’à leur prise en charge, leur traitement médicamenteux ou psychothérapeutique.

Bladder function is controlled by the autonomic and somatic nervous system in the spinal cord. It is coordinated in the brainstem. Different areas of the brain are involved in the voluntary control of this reflex functioning. Brain lesions often cause an overactive bladder syndrome with increased voiding frequency and urgency. Urinary incontinence, frequently present, may be linked to overactive bladder and associated motor and cognitive disorders. Urinary retention occurs in the acute phase of a hemispherical lesion and following brainstem lesions. The identification, evaluation and treatment of urinary disorders in brain-damaged patients require a global assessment and integrated management taking the other neurological consequences of brain damage into account.Le fonctionnement vésical est commandé par les systèmes nerveux autonome et somatique situés dans la moelle épinière. Le tronc cérébral gère et coordonne leur action. Différentes zones du cerveau sont impliquées dans le contrôle volontaire du fonctionnement réflexe. Les lésions cérébrales provoquent souvent un syndrome d’hyperactivité vésicale (HAV) avec une augmentation de la fréquence mictionnelle et une urgenturie. L’incontinence urinaire, souvent présente, pourrait être liée à l’HAV et aux troubles moteurs et cognitifs associés. La rétention urinaire survient à la phase aiguë d’une lésion hémisphérique et suite aux lésions du tronc cérébral. L’identification, l’évaluation et le traitement des troubles urinaires chez les cérébrolésés nécessitent un bilan global et une gestion intégrée aux autres conséquences des lésions cérébrales.

In Switzerland, alcohol consumption is often trivialized and widely accepted as normal behavior. However, even in small quantities, repeated alcohol intake can cause injury to both the central nervous system and the peripheral one. Various mechanisms are involved : direct neurotoxicity, metabolic disorders, vitamin deficiencies, systemic injuries (hepatic, cardiovascular, immune), and accidents. This article describes potential neurological complications and their mechanisms, emphasizing the importance of early screenings for abusive consumption.En Suisse, la consommation d’alcool est une pratique bien ancrée dans les mœurs, considérée comme normale. Cependant, même pris en petites quantités, l’alcool peut provoquer une atteinte du système nerveux, tant central que périphérique. Les mécanismes impliqués sont divers : neurotoxicité directe, désordres métaboliques, carences vitaminiques, atteintes systémiques (en particulier du système hépatique, cardiovasculaire et immunitaire) ou accidents en tous genres. Cet article décrit les complications neurologiques possibles et évoque leurs mécanismes dans l’intention de souligner l’importance d’un dépistage précoce d’une consommation à risque.

Neurologic dysphagia is frequent and has consequences which can be severe, such as, denutrition andpneumonia. In most cases, it can be detected with a clinical exam. The management includes some general measures, an adaptation of textures, specific rehabilitation, and nutritional assessment to judge whether complementary enteral nutrition is needed.

Involvement of the central or peripheral nervous system, frequently present in systemic inflammatory immune disorders, has to be considered a severe threat and requires aggressive immunosuppressive treatment to achieve rapid remission. This is usually obtained with high-dose systemic corticosteroids combined with cyclophosphamide. Once remission is obtained, immunosuppressive agents with a more favorable safety profile are needed to exert a corticosteroid-sparing effect and minimize adverse events. New therapeutic approaches are currently developed to treat autoimmune diseases, mostly linked to the definition of new indications for biological agents such as TNF-alpha antagonists and rituximab.

The diagnosis of functional paresis is evoked when a patient presents with symptoms and signs incompatible with current anatomical and physiological knowledge. A broad assessment, including imaging and motor evoked potentials at rest, remains necessary; the rate of false diagnosis being estimated at 4%. The mechanisms of hysteria remain still dubious but various studies suggest that functional paresis is different from simulation by conscious, voluntary inhibition. The long-term prognosis is bad. The treatment includes cognitive-behavioral therapy and rehabilitation to develop a positive attitude.

Locked-in syndrome (LIS) after basilar artery occlusion is associated with poor prognosis. For a patient with LIS, rehabilitation aims to restore communication, avoid complications, and ensure a certain comfort. We describe a case with remarkable recovery. After 2 years the patient was independent for daily living activities, walks independently and has comprehensible speech.

The passage to ambulatory care of a patient with a long hospital stay due to a wrenching disease is not something obvious. The doctor and the care staff will have to take up the challenge of dealing with an important amount of care. The quality of life of the patient and his caregivers is influenced by the neuropsychiatric disorders, the illness intrusiveness and the depression that come along with them. The chronic disease intruding causes a crisis in their lives. In order to better evaluate these factors we are using the Illness Intrusiveness Rating Scale developed by Devins. This article addresses the high complexity of clinical situations handled in an environment of rehabilitation care with the support of the consultants, nurses and doctors, of the liaison psychiatry.