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Background Steroid-responsive encephalopathy and associated autoimmune thyroiditis (SREAT) is characterized by encephalopathy and the presence of antithyroid antibodies. We describe the clinical presentation, outcome and treatments for SREAT by a systematic review of the literature. Methods MEDLINE via PubMed, Web of Science and the Cochrane Library were searched for articles published until 2015. Inclusion criteria were unexplained encephalopathy with antithyroid antibodies. Results We found reports of 251 patients (median age 52 years [range 18–86], 73% females, 80 [32%] with preexisting thyroiditis). Patients presented encephalitis signs with convulsions (n = 117; 47%), confusion (n = 115, 46%), speech disorder (n = 91, 37%), memory impairment (n = 107, 43%), gait disturbance (n = 67, 27%) and persecutory delusions (n = 61, 25%). Twenty-eight patients (11%) presented progressive memory impairment and 26 (10%) isolated psychiatric disorders. In serum, 34% of patients were positive for anti-thyroid peroxidase (TPO) antibodies, 7% for anti-thyroglobulin (TG) antibodies, and 69% both. Thyroid-stimulating hormone levels were usually normal, at 2 UI/ml [0.001–205]. Cerebrospinal fluid from 10/53 patients (19%) was positive for anti-TPO antibodies, 2/53 (4%) anti-TG antibodies and 28 (53%) both. Electroencephalography findings were abnormal for 82% of patients, showing diffuse slowing consistent with encephalopathy (70%) or epileptic activity (14%). The first-line treatment was steroids in 193 patients and other immunosuppressive drugs in 10 cases. At a median follow-up of 12 months [ range 0.2 – 110], 91% of patients showed complete or partial neurological response, with anti-TPO and -TG antibody titers at 347 UI/ml [0–825,000] and 110 UI/ml [0–50,892], respectively. During follow-up, 40 patients (16%) experienced at least one relapse. Relapse was more frequent in patients with initial coma (26% vs 13%, p = 0.08). Conclusion The diagnosis of SREAT should be suspected in case of encephalopathy without obvious cause, to quickly start corticosteroid treatment. The exact modalities of treatment must be defined. [ABSTRACT FROM AUTHOR]

• MEFV heterozygosity is not associated with multiple sclerosis (MS). • MS is more frequent in familial Mediterranean fever (FMF) patients. • MS is more likely to lack oligoclonal bands when associated with FMF. • MS should be suspected upon neurological manifestations in FMF. • The association between FMF and MS is plausible but remains to be confirmed. Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disorder; and leads to the uncontrolled production of interleukin (IL)-1β. Multiple sclerosis (MS) is an inflammatory disease of the central nervous system; and its development seems to be partly correlated with IL-1β levels. It is hypothesized that FMF could be associated with MS. We aim to describe the features of patients displaying both diseases and to investigate the MEFV mutation rate in MS patients. Patients with definite MS were retrieved from the cohort of FMF patients in the Reference Center for Rare Auto-inflammatory Diseases and Amyloidosis (CEREMAIA). We also performed a systematic literature review of articles from PubMed that were published from 1990 to 2020. Twenty-four patients were included in the case series: five patients (1.3%) from our cohort of 364 and 19 patients from the literature. The sex ratio was 2:1. The mean age at diagnosis of FMF was 19 years old; and that for MS was 29 years old. Seven studies investigating the MEFV mutation rate in MS patients were included. Three studies found a higher mutation rate in MS patients than in the control group. FMF and MS features were comparable to those of patients with unrelated diseases; and MEFV mutation carriage was not positively correlated with MS. However; MS prevalence in FMF patients was higher than was expected in a healthy population. To a lesser extent; FMF prevalence in MS patients was higher than expected in a healthy population and the difference might not be significant. These data suggest that FMF could be associated with MS; and further studies are needed to investigate a potential causal association. [ABSTRACT FROM AUTHOR]

Résumé La catatonie est un syndrome clinique fréquent et pourtant méconnu. Décrite précisément par le psychiatre allemand Karl Kahlbaum à la fin du xix e siècle, la catatonie a connu certains rebondissements nosologiques. Rattachée à la schizophrénie par Emil Kraepelin puis par Eugen Bleuler, il a fallu attendre le milieu du xix e siècle pour reconnaître des catatonies en lien avec d’autres étiologies, notamment des affections somatiques. Ce changement de paradigme a permis de redécouvrir ce syndrome, d’en dessiner une prise en charge et de tenter d’en comprendre l’origine. D’un point de vue diagnostique, nous verrons que quelques signes cardinaux peuvent être retenus : inhibition et rigidité, stéréotypies, agitation sans but, négativisme et ambivalence. Le traitement de la catatonie doit être double : soulager le symptôme, c’est-à-dire lever l’état catatonique, et traiter la cause. Parmi les traitements symptomatiques, certaines benzodiazépines (notamment le lorazépam) et le zolpidem sont efficaces dans la majeure partie des cas et constituent un test diagnostique. En cas d’échec, l’électroconvulsivothérapie reste le traitement de référence en seconde ligne. Concernant la cause de la catatonie, on distingue les affections psychiatriques : les troubles de l’humeur en premier lieu, la schizophrénie, mais aussi l’autisme et la catatonie périodique, et également de très nombreuses causes organiques parmi lesquelles nous soulignerons la place de l’encéphalite à anticorps anti-NMDAR (récepteur N-Méthyl-D-Aspartate du glutamate). Le traitement de la cause doit être entrepris au plus vite et parallèlement au traitement de l’état catatonique, à l’exception des neuroleptiques qui risquent d’aggraver la catatonie s’ils sont administrés trop tôt. La catatonie correspondrait au niveau cérébral à un dysfonctionnement des circuits impliqués dans le mouvement volontaire, en réaction à la peur, le plus souvent sous forme stuporeuse mais parfois sous forme furieuse. Le cortex orbitofrontal latéral, en défaut dans la catatonie, et porteur de récepteurs GABA-A, serait fortement impliqué dans cette réaction primitive qu’il a pour rôle d’inhiber par interaction avec le cortex orbitofrontal médian et l’amygdale. Catatonia is a frequent but unrecognized syndrome. Described in the late nineteenth century by the German psychiatrist Karl Kahlbaum, catatonia has experienced some nosological twists including the attachment to schizophrenia by Emil Kraepelin and Eugen Bleuler. It was not until the mid-nineteenth century that clinicians recognize catatonia related to other etiologies including somatic ones. This paradigm shift has helped to rediscover this syndrome, to find a treatment algorithm and try to understand its pathophysiology. From a diagnostic point of view, we will see that a few cardinal signs may be retained: inhibition and rigidity, stereotypies, aimless agitation, negativity and ambivalence. The treatment of catatonia must be twofold: to relieve the catatonic state, and to treat the cause. Among symptomatic treatments, some benzodiazepines (such as lorazepam) and zolpidem are generally very effective and provide a diagnostic test. If that fails, electroconvulsive therapy is the main second line treatment. Regarding the cause of catatonia, one should distinguish psychiatric disorders: mood disorders, schizophrenia, autism and periodic catatonia; and numerous organic causes among which we will highlight anti-NMDAR (N-Methyl-D-aspartate glutamate receptor) encephalitis. Treating the cause should be undertaken as quickly as possible in parallel with the treatment of the catatonic state, except for neuroleptics which may worsen catatonia if administered early. Catatonia corresponds to a dysfunction of the circuits involved in voluntary movement in response to fear, most often in the form of stupor but sometimes in a furious form. The lateral orbitofrontal cortex, in default in catatonia, and carrier of GABA-A receptors, would be heavily involved in this primitive reaction which it should inhibit by interaction with the median orbitofrontal cortex and the amygdala. [ABSTRACT FROM AUTHOR]