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Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord, resulting in progressive muscle weakness and atrophy. Aims: The purpose of our study was to determine the frequency of SMN and NAIP deletions in Tunisian SMA patients. Materials and Methods: Polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was used to detect the deletion of exon 7 and exon 8 of SMN1 gene, as well as multiplex PCR for exon 5 and 13 of NAIP gene. Results: Fifteen (45.4%) out of 33 SMA patients were homozygously deleted for exons 7 and/or 8 of SMN1. Homozygous deletion of NAIP gene was observed in 20% (3 / 15) of patients. Conclusions: The molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis, and pre-implantation genetic diagnosis of SMA.

ObjectifEvaluer la frequence de la depression et sa correlation avec le coping et la qualite de vie (QdV) chez une population de patients tunisiens atteints de la maladie de Parkinson (MP).Patients et methodeNous avons realise une etude transversale portant sur 50 patients atteints de la MP. L’evaluation de la QdV, de la depression et des strategies de coping a ete realisee respectivement a l’aide d’une version arabisee de l’echelle SF-36, l’echelle MDRS et le Brief-COPE test.Resultats et conclusionsLa depression a ete retrouvee chez 58 % des parkinsoniens. Les strategies de coping les plus utilisees etaient centrees sur l’emotion, en particulier la religion (54 %). L’alteration de la QdV interessait particulierement la limitation emotionnelle (98,6 %) et l’activite physique (60,7 %). La presence d’une depression et l’utilisation d’un coping emotionnel sont associees a une mauvaise QdV et doivent etre considerees dans la prise en charge somato-psychique des patients Tunisiens atteints de la MP.

Hereditary spastic paraplegias (HSP) constitute a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower extremities. We performed the first clinical, epidemiological and genetic study of HSP in Southern Tunisia. We investigated 88 patients belonging to 38 unrelated Tunisian HSP families. We could establish the minimal prevalence of HSP in the district of Sfax at 5.75/100,000. Thirty-one percent of the families had a pure HSP, whereas 69% had a complicated form. The mode of inheritance was almost exclusively compatible with an autosomal recessive trait (97%, 37/38). Taking into account previously published results and new data generated in this work, genetic studies revealed significant or putative linkage to known HSP loci in 13 families (34.2%) to either SPG11 (7/38, 18.4%), SPG15 (4/38, 10.5%) or to SPG4 and SPG5 in one family each. The linkage results could be validated through the identification of two recurrent truncating mutations (R2034X and M245VfsX246) in the SPG11 gene, three different mutations (Q493X, F683LfsX685 and the novel S2004T/r.?) in the SPG15 gene, the recurrent R499C mutation in the SPG4 gene as well as the new R112X mutation in the SPG5 gene. SPG11 and SPG15 are the major responsible HSP genes in Tunisia.

Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified. Autosomal recessive forms of spastic paraplegias usually have clinically complex phenotypes but the SPG5, SPG24 and SPG28 loci are considered to be associated with 'pure' forms of the disease. Very recently, five mutations in the CYP7B1 gene, encoding a cytochrome P450 oxysterol 7-alpha hydroxylase and expressed in brain and liver, have been found in SPG5 families. We analysed the coding region and exon-intron boundaries of the CYP7B1 gene by direct sequencing in a series of 82 unrelated autosomal recessive hereditary spastic paraplegia index patients, manifesting either a pure (n = 52) or a complex form (n = 30) of the disease, and in 90 unrelated index patients with sporadic pure hereditary spastic paraplegia. We identified eight, including six novel, mutations in CYP7B1 segregating in nine families. Three of these mutations were nonsense (p.R63X, p.R112X, p.Y275X) and five were missense mutations (p.T297A, p.R417H, p.R417C, p.F470I, p.R486C), the last four clustering in exon 6 at the C-terminal end of the protein. Residue R417 appeared as a mutational hot-spot. The mean age at onset in 16 patients was 16.4 +/- 12.1 years (range 4-47 years). After a mean disease duration of 28.3 +/- 13.4 years (10-58), spasticity and functional handicap were moderate to severe in all cases. Interestingly, hereditary spastic paraplegia was pure in seven SPG5 families but complex in two. In addition, white matter hyperintensities were observed on brain magnetic resonance imaging in three patients issued from two of the seven pure families. Lastly, the index case of one family had a chronic autoimmune hepatitis while his eldest brother died from cirrhosis and liver failure. Whether this association is fortuitous remains unsolved, however. The frequency of CYP7B1 mutations were 7.3% (n = 6/82) in our series of autosomal recessive hereditary spastic paraplegia families and 3.3% (n = 3/90) in our series of sporadic pure spastic paraplegia. The recent identification of CYP7B1 as the gene responsible for SPG5 highlights a novel molecular mechanism involved in hereditary spastic paraplegia determinism.

Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three HSP-affected families from Spain, Portugal, and Tunisia and it allowed us to reduce the SPG26 locus interval from 34 to 9 Mb. Subsequently, a targeted capture was made to sequence the entire exome of affected individuals from these three families, as well as from two additional autosomal-recessive HSP-affected families of German and Brazilian origins. Five homozygous truncating (n = 3) and missense (n = 2) mutations were identified in B4GALNT1. After this finding, we analyzed the entire coding region of this gene in 65 additional cases, and three mutations were identified in two subjects. All mutated cases presented an early-onset spastic paraplegia, with frequent intellectual disability, cerebellar ataxia, and peripheral neuropathy as well as cortical atrophy and white matter hyperintensities on brain imaging. B4GALNT1 encodes β-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), involved in ganglioside biosynthesis. These findings confirm the increasing interest of lipid metabolism in HSPs. Interestingly, although the catabolism of gangliosides is implicated in a variety of neurological diseases, SPG26 is only the second human disease involving defects of their biosynthesis.

Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31. We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation-dependent probe amplification (MLPA) in a large panel of 175 unrelated HSP index patients from kindreds with dominant inheritance (AD-HSP), with either pure (n = 102) or complicated (n = 73) forms of the disease, after exclusion of other known HSP genes. We identified 12 different heterozygous mutations, including two exon deletions, associated with either a pure or a complex phenotype. The overall mutation rate in our clinically heterogeneous sample was 4.5% in French families with AD-HSP. The phenotype was restricted to pyramidal signs in the lower limbs in most patients but nine had a complex phenotype associating axonal peripheral neuropathy (= 5/11 patients) including a Silver-like syndrome in one patient, and less frequently cerebellar ataxia, tremor, dementia. Interestingly, we evidenced abnormal mitochondrial network organization in fibroblasts of one patient in addition to defective mitochondrial energy production in both fibroblasts and muscle, but whether these anomalies are directly or indirectly related to the mutations remains uncertain. Hum Mutat 32:1118–1127, 2011. ©2011 Wiley-Liss, Inc.

Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) and mental impairment is a frequent subtype of complicated HSP, often inherited as an autosomal recessive (AR) trait. It is clear from molecular genetic analyses that there are several underlying causes of this syndrome, with at least six genetic loci identified to date. However, SPG11 and SPG15 are the two major genes for this entity. To map the responsible gene in a large AR-HSP-TCC family of Tunisian origin, we investigated a consanguineous family with a diagnosis of AR-HSP-TCC excluded for linkage to the SPG7, SPG11, SPG15, SPG18, SPG21, and SPG32 loci. A genome-wide scan was undertaken using 6,090 SNP markers covering all chromosomes. The phenotypic presentation in five patients was suggestive of a complex HSP that associated an early-onset spastic paraplegia with mild handicap, mental deterioration, congenital cataract, cerebellar signs, and TCC. The genome-wide search identified a single candidate region on chromosome 9, exceeding the LOD score threshold of +3. Fine mapping using additional markers narrowed the candidate region to a 45.1-Mb interval (15.4 cM). Mutations in three candidate genes were excluded. The mapping of a novel AR-HSP-TCC locus further demonstrates the extensive genetic heterogeneity of this condition. We propose that testing for this locus should be performed, after exclusion of mutations in SPG11 and SPG15 genes, in AR-HSP-TCC families, especially when cerebellar ataxia and cataract are present.

Objective: Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently identified ZFYVE26 as the gene responsible for one of the clinical and genetic entities, SPG15. Our aim was to describe its clinical and mutational spectra. Methods: We analyzed all exons of SPG15 / ZFYVE26 gene by direct sequencing in a series of 60 non-SPG11 HSP subjects with associated mental or MRI abnormalities, including 30 isolated cases. The clinical data were collected through the SPATAX network. Results: We identified 13 novel truncating mutations in ZFYVE26 , 12 of which segregated at the homozygous or compound heterozygous states in 8 new SPG15 families while 1 was found at the heterozygous state in a single family. Two of 3 splice site mutations were validated on mRNA of 2 patients. The SPG15 phenotype in 11 affected individuals was characterized by early onset HSP, severe progression of the disease, and mental impairment dominated by cognitive decline. Thin corpus callosum and white matter hyperintensities were MRI hallmarks of the disease in this series. Conclusions: The mutations are truncating, private, and distributed along the entire coding sequence of ZFYVE26 , which complicates the analysis of this gene in clinical practice. In our series of patients with hereditary spastic paraplegia–thin corpus callosum, the largest analyzed so far, SPG15 was the second most frequent form (11.5%) after SPG11. Both forms share similar clinical and imaging presentations with very few distinctions, which are, however, insufficient to infer the molecular diagnosis when faced with a single patient.

Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower extremities. Only a few different mutations in the SPG10 gene, KIF5A, have been described in pure dominant forms of the disease. We sequenced the motor domain of KIF5A in a large panel of 205 European HSP patients with either pure or complicated forms of the disease. We identified eight different heterozygous missense mutations, seven novels, in eight different families of French origin. Residue R280 was a mutational hot spot. Interestingly, the patients in 7/8 families had a complex phenotype, with peripheral neuropathy, severe upper limb amyotrophy (Silver syndrome-like), mental impairment, parkinsonism, deafness and/or retinitis pigmentosa as variably associated features. We report the largest series of SPG10 families described so far, which extends both the mutational spectrum of the disease and its phenotype, which now includes complicated forms of HSP. SPG10 mutations were found in 10% of our complicated forms of HSP, suggesting that mutations in KIF5A represent the major cause of complicated AD-HSP in France. © 2008 Wiley-Liss, Inc.

Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Both "uncomplicated" and "complicated" forms have been described with various modes of inheritance. Sixteen loci for autosomal-recessive "complicated" HSP have been mapped. The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome. Here, we report the refinement of SPG15 to a 2.64 Mb genetic interval on chromosome 14q23.3-q24.2 and the identification of ZFYVE26, which encodes a zinc-finger protein with a FYVE domain that we named spastizin, as the cause of SPG15. Six different truncating mutations were found to segregate with the disease in eight families with a phenotype that included variable clinical features of Kjellin syndrome. ZFYVE26 mRNA was widely distributed in human tissues, as well as in rat embryos, suggesting a possible role of this gene during embryonic development. In the adult rodent brain, its expression profile closely resembled that of SPG11, another gene responsible for complicated HSP. In cultured cells, spastizin colocalized partially with markers of endoplasmic reticulum and endosomes, suggesting a role in intracellular trafficking.

International audience; OBJECTIVE: To perform a clinical and genetic study of Tunisian families with autosomal recessive (AR) hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). DESIGN: Linkage studies and mutation screening. SETTING: Reference Center for Neurogenetics in South and Center Tunisia. PARTICIPANTS: Seventy-three subjects from 33 "apparently" unrelated Tunisian families with AR HSP. MAIN OUTCOME MEASURES: Families with AR HSP-TCC were subsequently tested for linkage to the corresponding loci using microsatellite markers from the candidate intervals, followed by direct sequencing of the KIAA1840 gene in families linked to SPG11. RESULTS: We identified 8 Tunisian families (8 of 33 [24%]), including 19 affected patients, fulfilling the clinical criteria for HSP-TCC. In 7 families, linkage to either SPG11 (62.5%) or SPG15 (25%) was suggested by haplotype reconstruction and positive logarithm of odds score values for microsatellite markers. The identification of 2 recurrent mutations (R2034X and M245VfsX) in the SPG11 gene in 5 families validated the linkage results. The neurological and radiological findings in SPG11 and SPG15 patients were relatively similar. The remaining family, characterized by an earlier age at onset and the presence of cataracts, was excluded for linkage to the 6 known loci, suggesting further genetic heterogeneity. CONCLUSIONS: Autosomal recessive HSP-TCC is a frequent subtype of complicated HSP in Tunisia and is clinically and genetically heterogeneous. SPG11 and SPG15 are the major loci for this entity, but at least another genetic form with unique clinical features exists.

Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized by lower limb spasticity associated, in complicated forms, with additional neurological signs. We have analysed a large series of index patients (n = 76) with this condition, either from families with an autosomal recessive inheritance (n = 43) or isolated patients (n = 33), for mutations in the recently identified SPG11 gene. We found 22 truncating mutations, including the first four splice-site mutations, segregating in seven isolated cases and 13 families. Nineteen mutations were novel. Two recurrent mutations were found in Portuguese and North-African patients indicating founder effects in these populations. The mutation frequency varied according to the phenotype, from 41%, in HSP patients presenting with a thin corpus callosum (TCC) visualized by MRI, to 4.5%, in patients with mental impairment without a TCC. Disease onset occurred during the first to the third decade mainly by problems with gait and/or mental retardation. After a mean disease duration of 14.9 +/- 6.6 years, the phenotype of 38 SPG11 patients was severe with 53% of patients wheelchair bound or bedridden. In addition to mental retardation, 80% of the patients showed cognitive decline with executive dysfunction. Interestingly, the phenotype also frequently included lower motor neuron degeneration (81%) with wasting (53%). Slight ocular cerebellar signs were also noted in patients with long disease durations. In addition to a TCC (95%), brain MRI revealed white matter alterations (69%) and cortical atrophy (81%), which worsened with disease duration. In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype.

Hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower limbs. The locus designated spastic paraplegia 15 (SPG15), located in a 16-Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. In this study, we describe three additional families, of Tunisian origin, linked to the SPG15 locus, one of which had a significant multipoint LOD score of 3.46. In accordance with previous reports, the phenotype of our patients consisted of early onset spastic paraparesis associated with mental impairment and severe progression. Retinal degeneration was not observed, however, but we extended the phenotype of this form to include peripheral neuropathy and white matter abnormalities on MRI. Interestingly, like retinal degeneration, thin corpus callosum is not a constant feature in this entity.

WCN 2013 No: 2196 Topic: 6 — MS & Demyelinating Diseases Atypical neurological presentation of GSS: Case report O.H. Daoud, O. Hdiji, I. Bouchhima, E. Turki, A. Boukhris, M. Damak, M.I. Miladi, I. Feki, C. Mhiri. Habib Bourguiba Hospital, Sfax's Medecine University, Sfax, Tunisia Introduction: Gougerot-Sjogren Syndrome (GSS) is an auto-immune exocrinopathy characterized by xerophthalmia and xerostomia. Neurological complications occur between 8.5 and 70%. Data concerning central nervous system (CNS) symptoms have been rarely described. We analyze the clinical, radiological and therapeutic aspects of a patient with CNS signs revealing primitive GSS and we discuss some particularities. Case report: A 52-year-old woman was hospitalized for recurrent clinical focal signs of CNS involvement. It consisted on sudden left hemiparesis on 2009 and two sudden regressed episodes of aphasia on 2011 and 2013. Brain MRI revealed micro nodular lesions appearing as hyper-signal in T2 on periventricular white matter and frontal cortex. Both lacrymal and salivary gland secretions were affected. A high level of antinuclear antibodies to SSA was associated with inflammatory lesions in minor salivary glands biopsy. The diagnosis of GSS was established. An oral corticosteroid therapy (1 mg/kg/day) was prescribed during 6 weeks followed by progressive degression, with good outcome. Discussion: CNS damages are less frequently associated with GSS's systemic damages, and are often inaugural. The pathophysiology remains unknown. Some authors suggest the pathologic role of the anti-SSA based on their higher frequency in patients with CNS manifestation. Neurological focal manifestations are the most observed, but deficit signs are polymorphic. Aphasia is rarely described. The onset may be sudden as stroke. The MRI can reveal T2 hyperintensities on periventricular white matter or juxtacortical, more rarely on the cerebral cortex. Treatment of GSS's neurological manifestations is usually based an oral corticosteroid with high dose. doi:10.1016/j.jns.2013.07.1398 Abstract — WCN 2013 No: 2001 Topic: 6 — MS & Demyelinating Diseases Onset of secondary progression and long-term prognosis in multiple sclerosis A. Scalfari, A. Neuhaus, M. Daumer, P. Muraro, G. Ebers. Centre of Neuroscience, Department of Medicine, Imperial College, London, UK; Sylvia Lawry Centre, Munich, Germany; Oxford University, Oxford, UK Background: Prognosis in multiple sclerosis (MS) remains largely unpredictable. Objectives and methods: Among 806 relapsing-remitting (RR) patients from the London Ontario database, we assessed: 1) the effect of baseline features on the risk of secondary progression (SP); 2) the risk of becoming disabled (DSS 6–8) according to latency to SP. Results: Longer latency to SP predicted lower risk of reaching DSS 6 (OR= 0.76 for 5 years and OR= 0.44 for 15 years of latency); same results were observed in patients matched for early (year-1 + year-2) relapses number. However, RR phase duration did not influence SP evolution. The latency to SP conversely related to the number of total relapses (1–2 = 8.8 years; 3–4 = 11.3 years; ≥5 = 12.2 years). Predictors of the risk of SP were male sex (HR= 1.41), older age at onset (age N 30years vs ≤20years, 21–30years HR= 0.52, 0.65, respectively) and high early relapse frequency (≥3 vs 1, 2 attacks HR= 0.63, 0.75, respectively). Disease duration affected the probability of becoming SP (OR= 1.07), increasing by 9% every 5 years. At baseline, OR for risk of SP yielded by 3 relapses were 3.6, 5.8, 9.5 in patients aged 20, 30 or 40 at onset respectively, and increased by 2-fold at 10 years (OR 7.5, 12.1, 19.8, respectively) and by 5-fold at 20 years (OR 15.6, 25.5, 41.4, respectively). Conclusions: Prevention/delay of SP represents a potential therapeutic target. Early relapse number and age at onset can be used for selecting groups at higher risk of developing severe disability and requiring more aggressive treatments. doi:10.1016/j.jns.2013.07.1399 Abstract — WCN 2013 No: 2105 Topic: 6 — MS & Demyelinating Diseases Pediatric and adult multiple sclerosis — Comparison of magnetic resonance imaging characteristics at disease onset WCN 2013 No: 2105 Topic: 6 — MS & Demyelinating Diseases Pediatric and adult multiple sclerosis — Comparison of magnetic resonance imaging characteristics at disease onset R.-I. Milos, M. Szimacsek, M. Pritsch, J. Penzien, M. Karenfort, A. Blaschek, R. Seidl, K. Rostasy, A. Bayas, K. Storm van's Gravesande, M. Weber, D. Prayer, B. Kornek. Department of Radiology, Medical University Vienna, Vienna, Austria; DRK-Children’s Hospital Siegen, Siegen, Germany; Children’s Hospital Klinikum Augsburg, Augsburg, Germany; Department of General Pediatrics, Pediatric Neurology, Heinrich Heine University, Dusseldorf, Germany; Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner's Children's Hospital, Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics, Medical University of Vienna, Vienna, Austria; Department of Pediatrics IV, Division of Pediatric Neurology, InnsbruckMedical University, Innsbruck, Austria; Department of Neurology, Klinikum Augsburg, Augsburg, Germany; Gottfried von Preyer Children Hospital, Medical University of Vienna, Vienna, Austria; Department of Neurology, Medical University of Vienna, Vienna, Austria Background: Only few studies have compared MRI findings at disease onset between patients with pediatric(POMS) and adultonset multiple sclerosis (AOMS). Abstracts / Journal of the Neurological Sciences 333 (2013) e358–e421 e385

Auteur(s) : Amir Boukhris, Chokri Mhiri Service de Neurologie, Hopital Habib Bourguiba, Sfax, Tunisie Un patient âge de 30 ans, issus de parents consanguins du deuxieme degre (figure 1), presentait une difficulte a la marche d’installation insidieuse depuis l’âge de 15 ans en rapport avec une lourdeur et une raideur des membres inferieurs (MI) d’aggravation progressive associee a une deterioration mentale et une miction imperieuse. L’examen neurologique avait [...]

Objective: To decipher the pathophysiological mechanisms involved in SPG31 determinism. Background Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with SPG31, a pure dominant HSP. We recently identified 12 different heterozygous mutations in REEP1 by screening 175 unrelated HSP index patients from kindreds with dominant inheritance (AD-HSP), associated with either a pure or a complex phenotype. The overall mutation rate in our clinically heterogeneous sample was 4.5% in French families with AD-HSP. The phenotype was restricted to pyramidal signs in the lower limbs in most patients but 9 had a complex phenotype. Design/Methods: We performed analyses on primary cultures of fibroblasts in 5 patients from 2 unrelated SPG31 families. In family 1 (one patient), the mutation c.103delG, p.Val36SerfsX4 was identified in exon 3 of REEP1. In family 2 (4 patients), the mutation c.124T>C, p.Trp42Arg was identified in exon 3 of REEP1. Results: We evidenced abnormal mitochondrial network organization in fibroblasts of all patients from two SPG31 families in addition to defective mitochondrial energy production in both fibroblasts and muscle. The localization of some mitochondrial proteins appeared dramatically impaired in all the fibroblasts studied. Conclusions: The alteration of mitochondrial morphogenesis seems correlated to the type of mutation. Studies of potential partners of REEP1 highlight the crucial role of mitochondrial fusion-fission balance in the pathogenesis of SPG31 and suggest a direct involvement of mitochondrial dysfunction in this neurodegenerative condition. Supported by: Association contre les maladies mitochondriales (AMMi), Association Strumpell-Lorrain (ASL). Disclosure: Dr. Goizet has received research support from Genzyme Corporation. Dr. Benard has nothing to disclose. Dr. Depienne has nothing to disclose. Dr. Boukhris has nothing to disclose. Dr. Sole has nothing to disclose. Dr. Coupry has nothing to disclose. Dr. Pilliod has nothing to disclose. Dr. Martin-Negrier has nothing to disclose. Dr. Forlani has nothing to disclose. Dr. Durr has nothing to disclose. Dr. Brice has nothing to disclose. Dr. Lacombe has received personal compensation for activities with Genzyme as a consultant. Dr. Rossignol has nothing to disclose. Dr. Stevanin has nothing to disclose.

Introduction La tuberculose du systeme nerveux central (SNC) demeure un probleme de sante publique en Tunisie. Les tuberculomes intraduraux extramedullaires (TIDEM) sont exceptionnels. Seuls quelques cas ont ete rapportes. Observations Une femme de 26 ans etait suivie au service de Neurologie de Sfax depuis 2004 pour une meningo-encephalo-radiculite d’origine tuberculeuse sous traitement antituberculeux. Un an plus tard, elle a presente d’une facon insidieuse une lourdeur et des paresthesies des membres inferieurs avec des troubles sphincteriens. L’examen neurologique a montre une paraplegie spastique et un niveau sensitif T11. L’IRM medullaire a montre la presence d’une lesion ovalaire intradurale extramedullaire, en hyposignal T1 et T2 au niveau de L1. Apres injection de Gadolinium, il y avait une prise de contraste peripherique en cocarde. Cette lesion refoulait le cone terminal et s’associe a une epidurite dorsale. Il n’existait pas d’immunodepression et la serologie HIV etait negative. Le traitement chirurgical consistait en une laminectomie D10-L2, evidement d’une masse kystique en regard de la queue-de-cheval renfermant un liquide epais, jaunâtre rappelant le caseum. Il existait aussi une arachnoidite etendue sur une hauteur de 10 cm adherente a la moelle dorsale. L’examen anatomopathologique de la piece operatoire etait en faveur d’une necrose caseeuse et avait confirme l’origine tuberculeuse. L’evolution s’est faite vers l’amelioration partielle. Discussion L’atteinte du SNC s’observe dans 10 % des cas de tuberculose. La meningite tuberculeuse represente la forme la plus frequente. Les TIDEM sont exceptionnels. Seuls 25 cas ont ete rapportes dans la litterature. Le debut est insidieux et progressif. L’IRM medullaire est la methode diagnostique de choix. L’association d’une resection chirurgicale a un traitement anti tuberculeux de longue duree permet une bonne recuperation motrice. Conclusion Bien qu’exceptionnel, le TIDEM doit etre evoque en presence d’un syndrome medullaire, chez un sujet jeune surtout dans les pays endemiques, en cas de contage tuberculeux ou en cas d’antecedents de meningite tuberculeuse.