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Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive cerebellar ataxia disorder that is caused by a mutation in the alpha-tocopherol transfer protein gene TTPA, leading to a lower level of serum vitamin E. Although it is almost clinically similar to Friedreich's ataxia, its devastating neurological features can be prevented with appropriate treatment. In this study, we present a patient who was initially diagnosed with Friedreich's ataxia, but was later found to have AVED. Frataxin gene screening revealed the absence of GAA expansion in homozygous or heterozygous state. However, TTPAgene sequencing showed the presence of the c.744delA mutation, leading to a premature stop codon (p.E249fx). In addition, the result of mutational analysis of MT-DNA genes revealed the presence of several variants, including the m.10044A>G mutation in MT-TG gene. Here, we report for the first time the coexistence of both mitochondrial and nuclear genes mutations in AVED.

Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development of various dysmorphic features in significant number of patients, facial recognition entity has not yet been established for SRD5A3-CDG. Herein, we reported a novel SRD5A3 missense pathogenic variant c.460 T > C p.(Ser154Pro). The 3D structural modeling of the SRD5A3 protein revealed additional transmembrane α-helices and predicted that the p.(Ser154Pro) variant is located in a potential active site and is capable of reducing its catalytic efficiency. Based on phenotypes of our patients and all published SRD5A3-CDG cases, we identified the most common clinical features as well as some recurrent dysmorphic features such as arched eyebrows, wide eyes, shallow nasal bridge, short nose, and large mouth. Based on facial digital 2D images, we successfully designed and validated a SRD5A3-CDG computer based dysmorphic facial analysis, which achieved 92.5% accuracy. The current work integrates genotypic, 3D structural modeling and phenotypic characteristics of CDG-SRD5A3 cases with the successful development of computer tool for accurate facial recognition of CDG-SRD5A3 complex cases to assist in the diagnosis of this particular disorder globally.

Mitochondrial diseases are a heterogeneous group of disorders caused by the impairment of the mitochondrial oxidative phosphorylation system which have been associated with various mutations of the mitochondrial DNA (mtDNA) and nuclear gene mutations. The clinical phenotypes are very diverse and the spectrum is still expanding. As brain and muscle are highly dependent on OXPHOS, consequently, neurological disorders and myopathy are common features of mtDNA mutations. Mutations in mtDNA can be classified into three categories: large-scale rearrangements, point mutations in tRNA or rRNA genes and point mutations in protein coding genes. In the present report, we screened mitochondrial genes of complex I, III, IV and V in 2 patients with mitochondrial neuromuscular disorders. The results showed the presence the pathogenic heteroplasmic m.9157G>A variation (A211T) in the MT-ATP6 gene in the first patient. We also reported the first case of triplication of 9 bp in the mitochondrial NC7 region in Africa and Tunisia, in association with the novel m.14924T>C in the MT-CYB gene in the second patient with mitochondrial neuromuscular disorder.

Mutations in Methyl-CpG-Binding protein 2 (MECP2), located on Xq28 and encoding a methyl CpG binding protein, are commonly related to Rett syndrome. However, MECP2 mutations have already been reported in patients with neurodevelopmental abnormalities such as X-linked mental retardation, severe neonatal encephalopathy and Angelman-like syndrome (AS-like). Accordingly, we report the clinical, molecular and bioinformatic analyses in a Tunisian patient with AS-like phenotype. In fact, the direct sequencing of MECP2 and cloning essay reveals the emergence of an unusual novel double mutation, including a de novo mutation c.397C > T (p.R133C) and an inherited one c.608C > T (p.T203 M) co-occurring in Trans. We also provide the molecular evidence of the c.608C > T transmission to the patient which was present in her father at somatic mosaicism state. To gain insight into the molecular basis of this disorder, we undertook, for the first time, a whole mitochondrial genome mutational analysis. Thus, the results showed the presence of several variations and a homoplasmic mutation m.827A > G in the MT-RNR1 gene, leading to the disruption of the 12S rRNA secondary structure. Our report is considered as the first to describe an unusual novel double mutation (c.397C > T in trans with c.608C > T) in MECP2 co-occurring with the mitochondrial m.827A > G mutation in the MT-RNR1 gene in a Tunisian patient with AS-like. Besides, our results highlight the importance of studying MECP2 and the significance of mDNA screening in AS-like disorder for a better understanding of its etiopathogenesis.

Metachromatic leukodystrophy (MLD) is a neurodegenerative disorder characterized by progressive demyelination resulting from impaired degradation and thus the accumulation of cerebroside-3-sulfate (sulfatide). It is caused by the deficiency of arylsulfatase A (ARSA) enzyme which is encoded by the ARSA gene. The present study reports the clinical, molecular, and bioinformatic investigation of three patients belonging to a consanguineous family with late-infantile MLD disorder. The results revealed a novel homozygous missense mutation c.699C>A (p.His231Gln) in exon 4 of ARSA gene in the three patients inherited from their heterozygous parents. Interestingly, this novel mutation is the second mutation identified in the substrate-binding site of ARSA protein and it was classified as damaging and deleterious by several bioinformatics tools. The c.699C>A (p.His231Gln) leads to changes in the pre-mRNA secondary structure and in the ARSA protein 3D structure with a significant root mean square deviation value which could probably affect its stability and function.

Sagittal sinus thrombosis (SST) induced by chemotherapy is exceptional. We describe here a new case following the fourth cure of chemotherapy based on cisplatin, bleomycin and etoposide in a 16-year-old patient with no obvious risk factors. Through this uncommon case which forms part of cerebral venous sinus thrombosis (CVST), we propose to study the pathophysiology, the diagnosis and the management of this entity. The exclusion of the other causes of CVST is important not only for the therapeutic implication but also for the prognosis. Then, accurate documentation of each case induced by chemotherapy is needed to further understanding.

Introduction Le syndrome de Klinefelter est une anomalie chromosomique presentant une grande variabilite d’expression clinique. Le caryotype sanguin montre une formule chromosomique a 47, XXY homogene dans 80 % des cas ou en mosaique dans 10 % des cas. Rarement, on peut trouver les formules suivantes 48, XXXY, 49, XXXXY, 48, XXYY entrant dans le cadre de variants du syndrome de Klinefelter. Observations Dans cette etude nous rapportons les caracteristiques cliniques et cytogenetiques de 4 patients presentant les variants du syndrome de Klinefelter. P1, âge de 6 mois, a ete adresse a notre consultation pour dysmorphie faciale avec hypotonie neonatale. Les organes genitaux externes (OGE) sont de type masculin avec testicules en place et presence d’un phemosis. P2, âge de 14 mois, presente une dysmorphie faciale et un retard psychomoteur. L’examen des OGE montre une ectopie testiculaire gauche. P3 est un nourrisson de 6 mois ayant une dysgenesie gonadique. P4 est un homme âge de 33 ans qui consulte pour infertilite. Le caryotype standard realise pour P1, P2, P3 et P4 montre respectivement les formules chromosomiques suivantes : (48, XXYY), (49, XXXXY), (49, XXXXY/46, XY), (47, XXY[29]/48, XXYY[1]). Discussion Les manifestations du syndrome de Klinefelter apparaissent essentiellement a la puberte avec notion de gynecomastie et de petite taille testiculaire, voir meme a l’âge adulte avec infertilite. Cependant les variants de ce syndrome ont un spectre phenotypique plus large avec un pronostic plus severe. La confirmation precoce du diagnostic est essentielle pour la prise en charge therapeutique et le conseil genetique.

Background: Febrile seizures (FSs) relatively represent the most common form of childhood seizures. FSs are not thought of as a true epileptic disease but rather as a special syndrome characterized by its provoking factor (fever) and a typical range of 3 months to 5 years. Although specific genes affecting the majority of FS cases have not been identified yet, several genetic loci for FSs have been reported recently. The aim of this report is to search for the gene responsible for FSs in six affected Tunisian families. Methods: A microsatellite marker analysis was performed on the known FS and generalized epilepsy with febrile seizures plus (GEFS+) loci. According to the results obtained by statistical analyses for the six studied families and in agreement with the involvement of SCN1B gene in the GEFS+ syndrome in previous studies, SCN1B on GEFS+1 locus was considered as one of the potential candidate genes and was tested for mutations by direct sequencing. Results: A sequencing analysis of the SCN1B gene revealed a novel mutation (c.374G>T) that changed an arginine residue with leucine at position 125 of the protein. We consider that the variation R125L may affect the protein structure and stability by the loss of hydrogen bonding. Two identified single nucleotide polymorphisms that are located in a neighboring hypothetical polyadenylation were assumed to compose a putative disease-associated haplotype. Conclusion: Our results support that SCN1B is the gene responsible in one amongst the six FS Tunisian families studied and might contribute to the FS susceptibility for the five others.

Background and purpose: Febrile Seizure can be associated with heterogeneous epilepsy phenotypes regrouped in a syndrome called generalized epilepsy with febrile seizures plus (GEFS+). The aim of this report is to search for the gene responsible for GEFS+ in two affected Tunisian families. Methods: Microsatellite marker analysis was performed on the known FS and GEFS+ loci. According to the results obtained by statistical analyses, GABRG2 on GEFS+3 locus and SCN1A on GEFS+2 locus were considered as two of the potential candidate genes and were tested for mutations by direct sequencing. Results and conclusions: The mutation analysis and statistical test of the GABRG2 gene revealed a disease association with rs211014 in intron 8 (χ2 = 5.25, P = 0.021). A sequencing analysis of the SCN1A gene was performed for the two tested families and showed a known mutation (c.1811G>A) and a putative disease-associated haplotype in only one family. Our results support that SCN1A is the responsible gene for GEFS+ in one of the two studied Tunisian families and suggest a positive association of an intronic SNP in the GABRG2 gene in both families.

Posterior reversible encephalopathy syndrome (PRES) is an acute central nervous system disorder characterized by reversible brain vasogenic edema. We report here a new case of a nine-year-old boy with B-cell acute lymphoblastic leukemia (B-ALL) who developed PRES secondary to induction chemotherapy including dexamethasone (dexamethasone®), vincristine (oncovin(®)), daunorubicin (adriblastine(®)) and intrathecal injection. Cerebral magnetic resonance imaging (MRI) showed high signal intensity on T2 at cortical and sub cortical region of parieto-frontal and parieto-occipital lobes. The patient was put under sodium valproate (depakine(®)) and we decided to continue dexamethasone (dexamethasone(®)) and daunorubicin (adriblastine(®)) injection. The MRI, after four weeks, was normal. So, we resumed vincristine (oncovin(®)) and we started L-asparaginase injections. Then, the outcome was favorable. The treatment of PRES is based on the withdrawal of the triggering factor to avoid the risk of irreversible lesions. But, due to the severity of leukemia the discontinuation of chemotherapy is difficult because of the risk of disease progression.

Cavernous malformations are vascular lesions of the central nervous system. They are very rare in childhood. We report the case of sporadic cavernous cerebral angioma in a 1-year-old girl without pathologic antecedents revealed by a partial seizure. With this case and a review of the literature, we show the clinical and therapeutic characteristics of cerebral cavernomatosis in childhood.

Glanzmann thrombasthenia (TG) is a congenital platelet function disorder characterized by frequent and occasionally severe bleeding events. Treatment is based on platelet transfusion at the time of bleeding. We report a case of GT revealed in the neonatal period, a severe hemorrhagic syndrome refractory to transfusions, treated at the age of 6 years. Activated recombinant factor VII (Novoseven) injections were necessary. The advantages of recombinant activated factor VII in GT patients with platelet antibodies and/or platelet transfusions refractoriness are discussed.

Nosocomial Infections (NI) have been the major causes of morbidity and mortality of patients in intensive care units (ICUs) particularly in developing countries. Intensive surveillance and preventive measures is an effective element to fight against NI. Based on the temporal data recorded daily in the intensive care unit (ICU) and the help of some physicians, we plan to develop a Clinical Dynamic Decision Support System (CDDSS) based on knowledge discovery in databases (KDD) to help Physicians to predict and prevent NI. The CDDSS aims to the daily estimation of the NI occurrence probability, in the ICU patient hospitalization. The goal is to be able to anticipate if the association of some factors will support the appearance of the infections on the basis of patient histories. We propose to develop an algorithm for mining temporal association rules to extract temporal information. The discovery of temporal pattern would help them to take measures at time.

Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease (PMLD) are hypomyelinating leucodystrophies of the central nervous system (CNS) with a very similar phenotype. PMD is an X-linked recessive condition caused by mutations, deletion duplication or triplication of the proteolipid protein 1 gene (PLP1). However, PMLD is a recessive autosomal hypomyelinating leukodystrophy caused by mutations of the GJC2 gene. In this study, we analyzed 5 patients belonging to 4 Tunisian families. Direct sequencing of GJC2 gene in all probands showed the same homozygous founder mutation c.-167A>G localized in the promoter region. We also generated two microsatellite markers GJC2 195GT and GJC2 76AC closed to the GJC2 gene to confirm the presence of a founder effect for this mutation. Haplotype study showed that the c.-167A>G promoter mutation occurred in a specific founder haplotype in Tunisian population. The identification of this founder mutation has important implications towards genetic counseling in relatives of these families and the antenatal diagnosis.

To illustrate through 10 pediatric cases, the clinical features, course, and importance of neuroimaging (especially MRI) in guiding the diagnosis of acute disseminated encephalomyelitis (ADEM) and controlling patients after treatment.A retrospective review of 10 pediatric cases of ADEM, with special regard to the MRI features, presenting to the Pediatric Departments, Hedi Chaker Hospital, Sfax, Tunisia between January 2002 and December 2008.Children with ADEM presented with variable and multiple neurological signs most often occurring after an infectious episode, especially after upper respiratory tract infection. The MRI permitted confirmation of the diagnosis by showing demyelinating lesions either in the brainstem, the cerebellum, the cerebral white and grey matter, or in the spine of all patients.Acute disseminated encephalomyelitis is characterized by multifocal demyelinating lesions resulting in varied neurological signs. The MRI is the technique of choice to show these lesions.

Cytochrome c oxidase is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. In this study, the authors report the second mutation associated with Leigh syndrome in the blood and buccal mucosa of 2 affected members of a Tunisian family. It was a novel heteroplasmic missense mitochondrial mutation at nucleotide 9478 in the gene specifying subunit III of cytochrome c oxidase substituting the valine at position 91 to alanine in a highly conserved amino acid. It was found with a high mutant load in tissues derived from endoderm (buccal mucosa) and mesoderm (blood). However, it was nearly absent in tissue derived from ectoderm (hair follicles). It was absent in 120 healthy controls, and PolyPhen analysis showed that the hydropathy index changed from +1.276 to +0.242, and the number of structures of the 3D protein decreased from 39 to 32.

Generalized epilepsy with febrile seizure plus (GEFS+) is an autosomal dominant disorder. In the literature, 5 responsible genes were identified and 2 novel susceptibility loci for GEFS+ at 2p24 and 8p23-p21 were reported, indicating the genetic heterogeneity of this disorder. The aim of this report is to identify the responsible loci in a large affected Tunisian family by performing a 10cM density genome-wide scan. The highest multipoint logarithm of odds (LOD) score (1.04) was found for D5S407 in the absence of recombination. Two other interesting regions were found around marker D19S210 (LOD=0.799) and D7S484 (LOD=0.61) markers. To fine map these loci, additional markers in 2 regions on 5q13.3 and 7p14.2 were analyzed and positive LOD scores for both loci were obtained. Sequencing of the Sodium channel subunit beta-1 gene (SCN1B) (19q13.1) showed the absence of any causal mutation. Our findings emphasized the genetic heterogeneity of febrile seizures.

Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafness. He also had tetraplegia, with central blindness and swallowing difficulty. Brain magnetic resonance imaging (MRI) showed involvement of the interpeduncular nucleus and central tegmental tract, white matter abnormalities, and cerebellar atrophy. A whole mitochondrial genome screening revealed the presence of 19 reported polymorphisms and an undescribed A to G mutation at nucleotide 8411 (p.M16V) affecting a conserved region of the mitochondrial adenosine triphosphatase (ATPase) 8 protein. This de novo mutation was detected in heteroplasmic form (97%) and was absent in 120 controls. Thus, the m.8411A>G mutation could strongly be associated with the disease in the tested patient.

Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure to thrive, seizures and respiratory failure. In this study, we performed a systematic sequence analysis of mitochondrial genes associated with LS in Tunisian patients. We sequenced the encoded complex I units: ND2, ND3, ND4, ND5 and ND6 genes and the mitochondrial ATPase 6, tRNA(Val), tRNA(Leu(UUR)), tRNA(Trp) and tRNA(Lys) genes in 10 unrelated patients with Leigh syndrome. We revealed the presence of 34 reported polymorphisms, nine novel nucleotide variants and two new mutations (T5523G and A5559G) in the tested patients. These two mutations were localized in two conserved regions of the tRNA(Trp) and affect, respectively, the D-stem and the T-stem of the mitochondrial tRNA leading to a disruption of the secondary structure of this tRNA. SSP-PCR analysis showed that the T5523G and A5559G mutations were present with respective heteroplasmic rates of 66% and 43 %. We report here the first mutational screening of mitochondrial mutations in Tunisian patients with Leigh syndrome which described two novel mutations associated with this disorder.

We undertook in this study the first successful prenatal diagnoses of MDC1A and LGMD2C forms in Africa, with a subsequent postnatal clinical follow-up of the newborns. Genetic and molecular studies were performed on cultured amniotic fluid cells after exclusion of maternal cell contamination. Immunofluorescence on the patients' muscle biopsies was performed so as to study the expression of muscular laminins. Results showed that normal and affected fetuses were diagnosed according to the presence or the absence of the responsible mutation in LAMA2 or SGCG genes. Postnatal molecular and clinical outcome was concordant with all prenatal diagnoses. However, a patient with MDC1A form of congenital muscular dystrophy who was diagnosed as affected was normal at birth, and developed later clinical features different from those observed in his severely affected elder brother. This intrafamilial clinical variability in two siblings occurring with the same mutation in LAMA2 gene emphasizes the importance of the postnatal follow-up in the confirmation of prenatal diagnosis, and suggests that other genetic or epigenetic factors can monitor the course of the MDC1A form.

Resume Introduction Le syndrome des pointes-ondes continues du sommeil (POCS) represente une forme rare d’epilepsie qui peut se manifester par des troubles neurocognitifs et/ou psychiatriques. Les troubles autistiques sont frequemment associes. Observation Un garcon de 5 ans, issu d’un mariage consanguin lointain ne a terme par cesarienne sans notion de souffrance neonatale, a presente, a l’âge de 18 mois, une epilepsie focale a semiologie centrale confirmee par un electroencephalogramme (EEG) de veille et de sommeil. Il a ete mis sous valproate de sodium (Depakine ® ). Le bilan neuropsychologique a permit d’etablir le diagnostic d’autisme typique (CIM10). Dans le cadre du bilan du retard du langage et des troubles du comportement, un EEG de sommeil realise a l’âge de 3 ans et demi, a objective un pattern de POCS. L’evolution electrique a ete initialement favorable sous valproate de sodium (Depakine ® ) et Clobazam (Urbanyl ® ) avec disparitions des anomalies a l’EEG de sommeil pratique apres un mois et demi de traitement. L’evolution a ensuite ete marquee par la reapparition du pattern de POCS aux EEG ulterieurs ayant necessite l’association aux traitements anterieurs d’ethosuximide (Zarontin ® ). L’evolution electroclinique a ete partiellement favorable grâce a un traitement multidisciplinaire (medicamenteux, reeducation orthophonique et psychomotricite) Discussion L’association autisme et POCS peut etre meconnue ; les POCS ne se manifestant que par une aggravation des troubles neurocognitifs. Nous attirons l’attention sur cette entite clinique, afin de pouvoir la traiter efficacement. L’EEG de sommeil est indispensable pour une meilleure prise en charge. La disparition du pattern de POCS sous traitement s’accompagne habituellement d’une amelioration neuropsychologique significative bien que partielle. Conclusion Cette observation d’un enfant presentant des troubles du comportement et du langage, revelant un POCS, souligne l’interet dans ces situations cliniques frequentes de pratiquer un EEG de sommeil. Informations complementaires Pas de financement.

Club foot is a common congenital deformity, for which a neurogenic process in utero has been proposed in some severe forms, but in most cases its cause remain uncertain. We report on four patients with an unilateral (three cases) or bilateral (one case) clubfoot and a bilateral perisylvian cortical dysplasia. All had severe dysarthria with mild mental retardation, epilepsy occurred in three cases. Direct evidence of fetal lesions of the spinal cord was occasionally present, such as signs of motor axonopathy in two cases analyzed by electrophysiological methods and syringomyelic cavitation at the thoracic level in one case. Even though the sensitivity of the investigations to demonstrate microcopic scars in the spinal cord remains weak, the presence of polymicrogyric rearrangements in the perisylvian cortex, known to proceed from a transient ischemic process occurring in the carotid territory during mid-gestation, strongly suggests that a similar mechanism occured in the spinal cord. In fact, the foot deformity cannot be viewed as the consequence of lesions to brain regions that do not control the foot motility in the fetus. Extraneurological lesions such as jejunal atresia, possibly proceeding from localized vascular compromise, were also encountered. In one sibship, one sister was found to have a severe developmental anomaly of one foot, suggesting that genetic factors may be involved. © 2003 Wiley-Liss, Inc.

Objectifs preciser les caracteristiques cliniques, radiologiques, les modalites therapeutiques et evolutives de l’encephalomyelite aigue disseminee (EMAD). Patients et methodes Etude retrospective de 10 cas d’EMAD colliges durant une periode de 7 ans. Le diagnostic a ete retenu chez des enfants ayant presente de facon brutale des signes neurologiques focaux ou multifocaux associes a des lesions de la substance blanche (SB) a l’IRM. Resultats il s’agit de 2 garcons et 8 filles ayant un âge moyen de 7 ans. L’EMAD a ete precedee par une infection dans 9 cas. A la phase d’etat, une convulsion a ete retrouvee dans 2 cas, un trouble de la conscience (5 cas), un trouble du comportement (1 cas) et un deficit moteur (5 cas). L’IRM cerebrale a montre une atteinte de la SB dans 10 cas et de la substance grise dans 8 cas, une atteinte du tronc cerebral (6 cas) et de la moelle epiniere (3 cas). Le traitement etait symptomatique, et etiologique. L’evolution etait favorable dans 5 cas, marquee par le deces (1 cas), et des sequelles dans les autres cas. Conclusion l’EMAD est une pathologie rare dont le diagnostic repose sur l’IRM, sa prise en charge repose sur la corticotherapie a forte dose qui permet une guerison dans la majorite des cas.

Le syndrome de Griscelli (SG) est une maladie hereditaire rare caracterisee par un albinisme partiel, une sensibilite accrue aux infections et l’apparition au cours de l’evolution d’un syndrome d’activation macrophagique (SAM). Nous rapportons un cas de SG chez un nourrisson de 2 ans. Observation A…, âge de 2 ans,a ete hospitalise a plusieurs reprises depuis l’âge de un mois pour fievre d’origine infectieuse mal toleree. A l’âge de 2 ans, A… a presente une dyspnee aigue associee a une fievre, pâleur extreme et une enorme hepatomegalie. L’hemogramme a revele une anemie regenerative a 4 g/dl et une thrombopenie. La ferritinemie a ete a 1 500 ng/l et les triglycerides a 4,1mmol/l. Le diagnostic retenu etait un SAM. Devant le retard psychomoteur, l’albinisme partiel et le SAM, un SG a ete suspecte. L’examen des cheveux en lumiere polarisee a montre des secteurs pigmentes sous forme de tâches brunâtres melaniques localisees dans l’axe de la tige en faveur d’un SG. La biologie moleculaire est en cours. Conclusion Le SG est une affection rare dont le diagnostic est suspecte sur l’aspect de cheveux a la lumiere polarisee mais confirme par la biologie moleculaire. Son pronostic est severe en l’absence de greffe de moelle osseuse.

International audience; Le travail de recherche présenté dans cet article a pour objectif de proposer un support à l'activité de conception d'un enseignant ou d'une communauté d'enseignants par un outil sensible au contexte exploitant une bibliothèque de patrons. Cet article présente un travail réalisé dans le cadre d'un partenariat avec une association (PARTAGE). Cette association a pour objectif de favoriser l'insertion professionnelle des demandeurs d'emploi. Ce travail vise à apporter une contribution pour assister l'équipe pédagogique de l'association à formaliser des scénarios pédagogiques décrivant leurs situations d'apprentissage. Nous avons analysé leur processus guidant le parcours d'un demandeur d'emploi et formalisé certaines de leurs pratiques pédagogiques sous la forme de patrons. Nous avons étudié la faisabilité de techniques d'opérationnalisation vers une plateforme cible comme Ganesha.