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The Francophone Society of Bone Marrow Transplantation and Cellular Therapy (SFGM-TC) organized the 8th allogeneic hematopoietic stem cell transplantation clinical practices harmonization workshop series in September 2017 in Lille, France. In this article we give the indications of autologous stem cell transplantation in multiple sclerosis as well as recommendations regarding post-transplant follow-up of patients under the hospice of the SFGM-TC and the Francophone Society of Multiple Sclerosis., (Copyright © 2018. Published by Elsevier Masson SAS.)

Neurological complications post-allogeneic hematopoietic stem cell transplantation are well-characterized; however, given their variable impact, they remain a significant cause of morbidity. The etiologies for these complications are vast. Causes may be linked to toxicity and infection or could be vascular or tumor-related. Regardless, these complications require early investigation, which is often multidisciplinary and hierarchical. Preventive measures may be considered in some situations. It is essential to respond early and quickly with a diagnosis and the appropriate therapeutic approach when faced with neurological complications. Focusing on the axes of etiology, diagnosis and treatment, this article offers a review of neurological complications post-allogeneic hematopoietic stem cell transplantation., (Copyright © 2018 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.)

Introduction: Cerebrotendinous xanthomatosis, a metabolic leukodystrophy with an autosomal recessive inheritance, is secondary to deficiency of sterol 27-hydroxylase, an enzyme involved in cholesterol catabolism. Classical symptoms include clinical or infraclinical xanthomas affecting the skin and tendons, early cataracts, neurological signs and diarrhea. Brain imaging reveals involvement of the dentate nuclei and periventricular white matter hyperintensities. The diagnosis is based on an increased cholestanol level in serum, confirmed by the presence of a mutation in the CYP27A1 gene. Treatment is based on chenodeoxycholic acid., Method: We report a retrospective multicentric study of 15 cases of cerebrotendinous xanthomatosis diagnosed in French adults. Clinical, molecular and MRI findings were recorded in all patients., Results: The average age at diagnosis was 39years (range 27-65). Disease onset occurred in childhood in 73% of patients and in adulthood in 27%. All patients with a pediatric onset were diagnosed during adulthood (age range 28-65years). Clinical symptoms variably associated cerebellar syndrome, pyramidal syndrome, cognitive decline, epilepsy, neuropathy (sought in 10 of our patients, present in forms in 8), psychiatric disorders, cataract and xanthomas. One patient had an atypical presentation: monoparesis associated with xanthomas. Brain MRI was abnormal in all: findings consisted in T2-weighted hyperintensity of the dentate nuclei (47%), periventricular leuoencephalopathy (73%) which preferentially involved the posterior cerebral part (60%), leucoencephalopathy with a vascular pattern (7%), hyperintensity of the cortico-spinal tracts (53%), globi pallidi, corpus callosum and cerebral atrophy (33%). Serum cholestanol was elevated in 93% of patients. The most frequent mutation was 1183C>T (n=5/15). Under treatment with chenodeoxycholic acid, eight patients improved initially, followed by stabilization in five of them, and worsening in the others. Four patients died., Conclusion: Patients with the xanthoma-neurological disorder association should be tested for cerebrotendinous xanthomatosis. The disease often begins in childhood with a diagnostic delay but also in adulthood. Involvement of the dentate nuclei is specific but not sensitive and the supratentorial leucoencephalopathy is not specific but with an antero-posterior gradient. A vascular distribution and involvement of the corpus callosum are possible. Serum cholestanol assay is very reliable: an elevated level provides the diagnosis, which must nevertheless be confirmed by molecular biology., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Neurological manifestations of viral diseases are predominantly secondary to herpes viridae infections. Among them Epstein-Barr (EBV) infections are rare particularly in immunocompetent adults. A 52 year old right-handed woman was admitted for progressive walking difficulties. She presented a proximal limb weakness with proprioceptive ataxia and pain because of lumbosacral radiculopathy confirmed by electromyography. Drowsiness and mnesic troubles were explained by encephalitis on electroencephalography. Brain MRI showed an enhancement of the sub-arachnoïd spaces. The diagnosis of meningoencephaloradiculitis due to primary EBV infection was supported by a mononucleosis syndrome, an increased antibody level and positive EBV PCR in the CSF. Clinical features spontaneously improved without antiviral treatment. Primary EBV infections are rare in adults, as more than 95p.cent of them are positive for EBV serology after 20 years of age. EBV PCR is CSF in an important diagnostic tool allowing to stop antiviral therapies in these cases having a good prognosis.

Intravenous (IV) cyclophosphamide is currently used in secondary progressive (SP) and Primary progressive (PP) Multiple Sclerosis (MS) but its efficacy remains uncertain. Furthermore, it is necessary to determine which MS should be successfully treated with IV cyclophosphamide. We retrospectively investigated 111 consecutive patients with progressive MS (21 PPMS and 90 SPMS) treated in an open label fashion with IV cyclophosphamide. We analysed clinical data (gender, age, duration of progression, primary versus secondary MS). The treatment response was assessed by EDSS change after 6 months and 1 year of treatment. The annual relapse average decreased from 1.92 before treatment to 0.39 during the treatment. Age and gender did not influence response to therapy. We did not find any difference of response between PPMS and SPMS. Duration of the progressive phase in SPMS was not a predictive factor of efficacy. A better response was noted in SPMS patients with surimposed relapses than in patients without relapses during the year before treatment (p<0.05). Furthermore, the better response in SPMS patients with relapses before treatment suggests that it is necessary to treat when MS is still in an inflammatory stage.

Various myopathies are described associated with tubular aggregates. However, in several cases tubular aggregates constitute the main structural feature allowing to consider myopathy with tubular aggregates as a distinct entity. A 50-year-old woman whose parents were consanguinous, presented frequent falls. She walked only after 18 months of age and did poorly in gymnastics. The weakness, which has myasthenic feature, involved predominantly the pelvis girdle. The serum creatine kinase was 206 UI/L (normal < 110 UI/L). Electromyogram showed a myogenic pattern in proximal muscles. Repetitive stimulation on the trapezius revealed 50 p. cent decrementing response. Muscle biopsy showed numerous tubular aggregates in type II fibers. Anti-acetylcholine receptor (AChR) antibodies were absent. There was no thymoma. The neostigmine test was negative. Clinical and electrical myasthenic features characterize one of the numerous forms of myopathy with tubular aggregates. In our case, the lack of AChR antibodies and the negative response to neostigmine argue in favor of a dysfunction of the AChR. This unusual observation highlights the therapeutic difficulties in this myopathy with neuromuscular block.