Mariem Damak

Clinical features and disability progression in multiple sclerosis in Tunisia: Do we really have a more aggressive disease course?

BACKGROUND Few epidemiological data are available on multiple sclerosis (MS) patients in North Africa (NA). Studies of immigrants from NA showed a more aggressive course compared to European patients. OBJECTIVE The aim of this study is to describe clinical and long term course characteristics of MS in Tunisia and to compare it to European cohorts. METHOD A total of 437 MS patients from three hospital based cohorts in Tunisia and having prospective follow up between 2010 and 2012 were analyzed. We considered as endpoints the time to reach EDSS scores of 3, 4 and 6 in the different clinical forms of MS and the beginning of a secondary progressive (SP) phase. RESULTS Sex ratio was 2.34. Mean age of onset was 30.3 years. The course was relapsing-remitting (RR) in 91% of patients and primary progressive (PP) in 9%. The most frequent isolated onset symptoms were respectively motor (28%), optic neuritis (20%) and sensory (16%) dysfunction. Median time to SP onset was 19.1 years. Median times from onset of multiple sclerosis to assignment of a score of 3, 4 and 6 were 8, 10.7 and 15 years respectively. Benign form of MS represented 31.5%. Median interval from the onset of the disease to EDSS score of 3, 4 and 6 was shorter in PP-MS than in RR-MS. However, there was no difference between these two groups for the median time from the assignment of EDSS 4 to the assignment EDSS 6. CONCLUSIONS Our study shows that Tunisian MS patients have a quite similar clinical feature to European patients. Still, larger MS multicenter cohort studies in NA with longer follow-up duration could clearly respond to the issue.

Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort

BackgroundIn North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson’s disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD’s diagnosis and support patients and their family caregivers for better management of their life according to disease’s evolution.MethodsIn our study, a genetic PD’s diagnosis tool was developed for large scale genotyping using Kompetitive Allele Specific PCR (KASP) technology. We investigated G2019S’s frequency in 250 Tunisian PD patients and 218 controls.ResultsWe found that 33.6% of patients and 1.3% of controls were carriers. Demographic characteristics of patients with G2019S had no differences compared with non-carrier patients. Thereby, we could emphasize the implication of G2019S in PD without any distinctive demographic factors in the studied cohort. Sixty patients out of 250 were genotyped using Taqman assay and Sanger sequencing. The genotyping results were found to be concordant with KASP assay.ConclusionsThe G2019S mutation frequency in our cohort was similar to that reported in previous studies. Comparing to Taqman assay and Sanger sequencing, KASP was shown to be a reliable, time and cost effective genotyping assay for routine G2019S screening in genetic testing laboratories.

Acute aortic dissection presenting as painless paraplegia: a case report.

BackgroundAcute aortic dissection is an extreme emergency that is generally manifested by violent chest pain irradiating to a patient’s back and abdomen. Paraplegia due to spinal cord ischemia and infarction as a presenting manifestation of aortic dissection has been found in 2 to 5 % of patients. However, painless paraplegia is exceedingly rare and limited to a few case reports in the literature. We describe a new case with this unusual presentation of aortic dissection and here we emphasize that this condition must be considered in all patients with painless paraplegia.Case presentationA 70-year-old Arab man with no previous known medical or surgical conditions was hospitalized for brutal heaviness of his lower limbs associated to urinary retention. A neurological examination revealed flaccid paraplegia without sensory disorder. His blood pressure and his pulse were in normal ranges. He was afebrile. His peripheral pulses were not checked. Laboratory investigations eliminated multiple organ failure. Spinal magnetic resonance imaging realized in emergency was normal. He had a cardiopulmonary arrest 1 day after his hospitalization. His autopsy report concluded a type A aortic dissection with an intimal tear at his aortic isthmus with intrapericardial rupture and extension to his intercostal and lumbar arteries.ConclusionsAcute aortic dissection is an extreme emergency that can lead to death unless there is an early diagnosis. It must be considered in any patient with paraplegia even painless. Clinical examination has a major role to play in diagnosing this condition. Apart from the neurological examination, palpation of peripheral pulses and blood pressure measurements in all four limbs is of paramount importance. Then further investigations must be carried out consisting of aortic angiography by computed tomography or by magnetic resonance imaging.

Nouvelle mutation du gène ATP7B responsable d’une maladie de Wilson avec atteinte neurologique sévère

Fig. 1 – Arbre généalogique. Le symbole d’individu noir correspond au sujet atteint (flèche : cas index ; carré hachuré : frère probablement atteint ; * : sujets prélevés). Family pedigree (black symbol: affected member; arrow: index case; hatched square: probable affected brother; *: individuals for whom DNA was available). Nouvelle mutation du gène ATP7B responsable d’une maladie de Wilson avec atteinte neurologique sévère

Ictal epileptic headache: Is it a rare phenomenon?

Objectives Ictal epileptic headache (IEH) is a rare condition. Missing electroencephalographic (EEG) data, isolated ictal headaches can be linked to tension or migraines headaches even among epileptic patient with substantial therapeutic implications [1] , [3] . Results Here we report the case of two female aged 12 and 40 year-old. Both were followed for epilepsy with Gastaut type benign occipital lobe epilepsy in the first case and focal symptomatic epilepsy due to right mesial temporal sclerosis in the second case. Medical history of migraine was found in the eldest case. At psychiatric evaluation, our youngest patient exhibited histrionic personality. Our two patients were adherent to their anti-epileptic drugs. However, they became complaining from recurrent episode with sudden brief headache, tightening in quality. EEG recording of our first case showed right posterior discharge of sharp theta rhythms concomitant with headache. In our second case, one typical seizures was evidenced during scalp EEG recording with only headache synchronous to discharges starting in the right temporal derivation and spreading to the contralateral side. Anti-epileptic drug was then adjusted in both cases. Conclusion The association between epilepsy and migraine, reported in our second case, make the situation more conflicting when suggesting subtle seizure manifesting as IEH [1] , [3] . Further, psychiatric comorbidity frequent in epileptic patients, as was our first case, made it often difficult to identify epileptic nature of headache [2] . Thus, in patients with epilepsy, the occurrence of isolated headache should be taken into account before stating that a patient is seizure-free. In patent without history of epilepsy, IEH is long time assimilated to migraine or tension type headache as EEG is not recommended as a routine examination in patients with isolated headache.

Guillain Barre Syndrome Associated with Brucellosis: A Case Report and Review of the Literature

Introduction: Guillain-Barre syndrome (GBS) ranks as the most frequent cause of acute flaccid paralysis in the world. It is an autoimmune polyradiculoneuropathy, usually preceded by an acute infection. Rarely, brucellosis may induce a GBS.Objective: To evaluate the clinical and microbiological diagnostic properties of Brucella-induced GBS.Case Report: A 54-year-old woman, with no past medical history, was followed in infectious disease department. She was diagnosed with brucellosis. She had received antibiotic therapy (Rifampicin 600 mg/day and Doxycycline 200 mg/day). After 4 days of treatment, she was referred to our department because of rapidly progressive, ascending, symmetric weakness and bilateral paralysis of muscles of the face. On admission, she was alert. The deep tendon reflexes (DTRs) were absent in all extremities. Muscle strength was 3/5 in the upper extremities and 2/5 in the lower extremities. Proprioception in the lower extremities was impaired, but she did not have any sensory problems. Our patient also presented a facial diplegia. Physical examination was normal, except for splenomegaly. A lumbar puncture showed an albumin-cytologic dissociation in the CSF. Nerve-conduction studies were suggestive of demyelinating polyradiculoneuropathy. Coombs Wright titration was 1/160..Discussion: With a diagnosis GBS preceded by brucellosis, our patient was given an antibiotic therapy (Rifampicin 600 mg/day and Doxycycline 200 mg/day). During hospitalization, she had four plasma exchange sessions and a motor rehabilitation. In a follow-up after 4 weeks, our patient presented a partial recovery, and she was able to walk without support.Conclusion: This case demonstrates that brucellosis can present with a rare neurologic manifestation including GBS. Molecular mimicry seems to be responsible for this complication, through the synthesis of autoantibodies against myelin gangliosides. Thus, brucellosis should be ruled out in all patients who develop acute flaccid paralysis, especially in those who live in endemic areas.

LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathic

The LRRK2‐G2019S mutation is the most common cause of Parkinsons disease (PD) in North Africa. G2019S‐PD has been described as similar to idiopathic with minor clinical differences. The aim of this study was to determine the G2019S‐related phenotype and to investigate gender and gene dosage effects on clinical features of G2019S carriers.

Cavernous Sinus Syndrome as the Presentation of Systemic Non-Hodgkin’s Lymphoma

Background: Cavernous sinus (CS) involvement has rarely been reported in malignant lymphoma. CS syndrome is uncommon as an initial presentation of non-Hodgkin’s extra nodal lymphomas. Case report: A 57-year-old man presented with a one-month history of headache, ocular pain and diplopia. Neurological examination revealed incomplete palsy of the left III and right VI nerves, and sensory loss of the first division of the left trigeminal nerve. Initial Magnetic Resonance Imaging (MRI) suggested left CS thrombosis. Despite optimal anticoagulation therapy, he developed right oculomotor nerve palsy, with ptosis and mydriasis of the left eye and bilateral sensory loss of the first and second division of the trigeminal nerves. MRI demonstrated a homogenous tissue lesion occupying the CS with moderate gadolinium enhancement. A body scan showed hepatosplenomegaly with hepatic and splenic nodules. The patient underwent percutaneous transhepatic biopsy and the lesion was histologically diagnosed as non-Hodgkin’s lymphoma, diffuse large B-cell type. Tumor cells were positive for CD20, CD79a and Ki67. Following four cycles of intravenous and intrathecal chemotherapy, the right oculomotor nerve palsy was completely resolved. There was partial improvement of enhancing lesion noted on follow-up MRI. Conclusion: CS syndrome is a rare presentation of malignant non-Hodgkin lymphoma. The diagnosis rests largely on imaging and biopsy results. It is associated with poor prognosis and Aggressive combined modality treatment appears to improve survival.

Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.

Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.

Le syndrome de Fahr : à propos de dix cas

D03 Les trois singes de la sagesse : «ne rien voir, ne rien entendre, ne rien dire » A. Benoilida,∗, V. Quenardellea, J. Aupyb, C. Dalvit a, B. Lannesc, A. Echaniz-Lagunaa a Service de neurologie, hopitaux universitaires de Strasbourg, avenue Moliere, 67098 Strasbourg, France b Service de neurologie, hopital Pellegrin, CHU de Bordeaux, 33000 Bordeaux, France c Service de pathologie, hopitaux universitaires de Strasbourg, 67098 Strasbourg, France ∗Auteur correspondant. Adresse e-mail : aurelien.benoilid@chru-strasbourg.fr (A. Benoilid)