ABSTRACT
BACKGROUND: Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new mutation of this gene. CASE PRESENTATION: We present an 8-year-old Algerian female patient, who presented with a moderate phenotype with bilateral ptosis that fluctuates during the day and has occurred since birth. During the investigation, and despite the very probable congenital origin, we ruled out other diagnoses that could induce pathology of the neuromuscular junction. The genetic study confirmed our diagnosis suspicion by highlighting a new mutation in the COL13A1 gene. CONCLUSION: We report a case with a mutation of the Col13A1 gene, reported in the Maghreb (North Africa), and whose phenotype is moderate compared with the majority of cases found in the literature.
Subject(s)
Myasthenic Syndromes, Congenital , Child , Female , Humans , Mutation , Myasthenic Syndromes, Congenital/diagnosis , Myasthenic Syndromes, Congenital/genetics , Myasthenic Syndromes, Congenital/pathology , Neuromuscular Junction/genetics , Neuromuscular Junction/pathology , PhenotypeABSTRACT
ntroduction - L'atteinte cognitive est fréquente dans la Sclérose en Plaques (SEP) mais son diagnostic se fait souvent tardivement, au stade de désinsertion sociale et professionnelle. Les études portant sur les aspects cognitifs dans les formes pré-coces de la SEP tels que les syndromes cliniquement isolés (SCI) et les syndromes radiologiquement isolés (SRI) sont rares.Objectifs - Analyserles fonctions cognitives d'un premier événement démyélinisant et identifier les domainesqui seraient les plus précocement atteints.Patients et méthodes - Le profil cognitif d'une populationhomogène de 13 patients présentant unSCI a été évalué, eta été comparé à 15 témoins sains appareillés en fonction de l'âge, du sexe et du niveau d'éducation. Une batterie de tests neu-ropsychologiques(BCCogSEP, batterie courte d'évaluation cognitive de la SEP),vali-dée dans la SEP, a été utilisée. Ses composants explorent les capacités mnésiques et verbales, l'attention, la vitesse de traitement de l'information (VTI) et les fonctions exécutives.Résultats - Lesperformances cognitives globales étaient amoindries dans le groupe SCI, comparativement au groupe témoin. Sur les 13 patients atteints de SCI, cinq (38%) présentaient une altération cognitive globale qui a été objectivée par l'at-teinte d'au moins deux ou trois tests de la batterie. La PASAT (Paced Auditory Serial Addition Test)était le test le plus altéré (84,6% d'atteinte). La VTI et la mémoire de travail étaient les fonctions les plus atteintes chez les patients.Conclusion - Les dysfonctions cognitives peuvent se voir très précocement et peuvent grever lourdement le pronostic de la SEP.
Introduction - Cognitive impairment is common in multiple sclerosis (MS) but its diagnosis is often made late, at the stage of social and professional disinsertion. Studies of the cognitive aspects in early forms of MS such as clinically isolated syndrome (CIS) and radiologically isolated syndrome (RIS) are rare. Objectives - To analysis the cognitive functions of a first demyelinating event and identify the areas that would be most affected early. Patients and methods - The cognitive profile of a homogeneous population of 13 patients with a CIS was evaluated, and compared with 15 healthy controls, matched according to age, sex and level of education. A battery of neuropsychological tests (BCCogSEP, Short battery for cognitive assessment of MS) validated in MS,was used. Its components explore memory and verbal skills, attention, information processing speed (IPS) and executive functions. Results - The overall cognitive performance was reduced in the CIS group,compared to control group. Five out of thirteen CIS patients (38%) had an overall cognitive impairment, demonstrated by the achievement of at least two or three battery tests. The Paced Auditory Serial Addition Test (PASAT) was the most altered test (84.6% impairment). IPS and working memory were the most affected functions in the patients. Conclusion - Cognitive dysfunctions can be seen very early and can severely affect the prognosis of MS.
Subject(s)
Humans , Male , Female , Memory , Memory, Short-Term , Neuropsychological Tests , Demyelinating Diseases , Diagnosis , Academic Medical Centers , Cognitive DysfunctionABSTRACT
BACKGROUND/AIMS: The prevalence of epilepsy in Algeria is unknown. The aims of this multicenter transversal study were to determine the national prevalence and clinical characteristics of epilepsy in the Algerian population. METHODS: This two-phase study was conducted in 5 circumscriptions and included 8,046 subjects aged over 2 months who attended the randomly selected public and private primary care clinics. In the phase 1 study, a questionnaire was submitted to the sample of patients. In the phase 2 study, all potentially epileptic people were examined by neurologists and a second questionnaire was submitted, eventually assessed by appropriate investigations. RESULTS: Sixty-seven patients were identified as having active epilepsy, giving a crude prevalence ratio of 8.32 per 1,000 (95% CI, 6.34-10.3) and an age-adjusted prevalence ratio of 8.9 per 1,000. The highest age-specific ratio was found in patients aged 10-19 years (16.92 per 1,000). Generalized seizures (68.7%) were more common than partial seizures (29.8%). Perinatal injuries were the major leading putative causes (11.9%). CONCLUSION: The prevalence of epilepsy of 8.32 determined in this study is relatively high. These results provide new epidemiological data and suggest that epilepsy remains an important public health issue to consider in Algeria.
