Ilhem Turki

Anti-Ma2-encephalitis in a 2 year-old child: A newly diagnosed case and literature review

BACKGROUND Anti-Ma2-associated encephalitis is a rare paraneoplastic neurological syndrome characterized by isolated or combined limbic, diencephalic, or brainstem dysfunction. It is rarely reported in children. CASE STUDY We describe the clinical data of a 2-year-old girl referred to our department for refractory focal seizures associated with fever, followed by behavioural changes, speech disturbances and confusional episodes. Brain magnetic resonance imaging (MRI) showed left temporoparietal brain involvement. Haematological, biochemical and infectious evaluations were unremarkable. Autoimmune encephalitis was suspected. Paraneoplastic antibodies tests showed positive results for anti-Ma2 antibodies. Screening for underlying tumour was negative. Immunomodulatory treatment was administrated. The patient showed improvement of vigilance and behaviour. However, she kept refractory epilepsy. CONCLUSION Although poor response to immunotherapy, early diagnosis and appropriate treatment of this disorder may prevent irreversible sequelae.

Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis

BackgroundAntiepileptic drugs (AEDs) are effective medications available for epilepsy. However, many patients do not respond to this treatment and become resistant. Genetic polymorphisms may be involved in the variation of AEDs response. Therefore, we conducted an updated systematic review and a meta-analysis to investigate the contribution of the genetic profile on epilepsy drug resistance.MethodsWe proceeded to the selection of eligible studies related to the associations of polymorphisms with resistance to AEDs therapy in epilepsy, published from January 1980 until November 2016, using Pubmed and Cochrane Library databases. The association analysis was based on pooled odds ratios (ORs) and 95% confidence intervals (CIs).ResultsFrom 640 articles, we retained 13 articles to evaluate the relationship between ATP-binding cassette sub-family C member 1 (ABCB1) C3435T polymorphism and AEDs responsiveness in a total of 454 epileptic AEDs-resistant cases and 282 AEDs-responsive cases. We found a significant association with an OR of 1.877, 95% CI 1.213–2.905. Subanalysis by genotype model showed a more significant association between the recessive model of ABCB1 C3435T polymorphism (TT vs. CC) and the risk of AEDs resistance with an OR of 2.375, 95% CI 1.775–3.178 than in the dominant one (CC vs. TT) with an OR of 1.686, 95% CI 0.877–3.242.ConclusionOur results indicate that ABCB1 C3435T polymorphism, especially TT genotype, plays an important role in refractory epilepsy. As genetic screening of this genotype may be useful to predict AEDs response before starting the treatment, further investigations should validate the association.

3-Phosphoglycerate Dehydrogenase Deficiency: Description of Two New Cases in Tunisia and Review of the Literature

3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare autosomal recessive disorder of serine biosynthesis. It is typically characterized by congenital microcephaly, intractable seizures of infantile onset, and severe psychomotor retardation. Diagnosis is suspected on decreased l-serine levels in plasma and cerebrospinal fluid (CSF) and confirmed by genetic study. Early diagnosis in index cases allows supplementation in serine and prevention of fixed lesions. Prenatal diagnosis and genetic counseling allows prevention of secondary cases. We report on the two first unrelated Tunisian families with 3-PGDH deficiency confirmed by biochemical and genetic study. We discuss clinical, biochemical, imaging, electroencephalographic, and therapeutic aspects and review the literature.

Mixed movements disorders as an initial feature of pediatric lupus

UNLABELLED Systemic lupus erythematosus (SLE) is an immunologic disease of the early adulthood. In children, SLE is rare and neurological onset is uncommon. We report on an observation of pediatric lupus in heterozygous twins revealed by mixed movement disorders. CASE REPORT An 8-year-old boy, born to non consanguineous parents, with a family history of depression and a personal history of macular eruption, inflammatory polyarthralgias and a recurrent angina presented with acute movement and mood disorders. Neurological exam showed mild generalized choreic movements with motor and vocal tics. Antinuclear antibodies were positive. Brain MRI was normal. One year after, his twin brother presented with the same features. DISCUSSION Movement disorders are described in pediatric lupus but are unusual as inaugural features of the disease. In SLE, movement disorders such as chorea are usually reported. However, Tics seem to be exceptional. Pathophysiology remains unclear. Early onset and familial form support genetic implication in the pathogenesis of lupus. CONCLUSION Immune-mediated movement disorders such as in SLE are an established cause of acute movement disorders in child.

Pediatric Multiple Sclerosis in Tunisia: A Retrospective Study over 11 Years

Introduction Pediatric multiple sclerosis (pMS) is a rare demyelinating disorder with an onset before the age of 18 years. In this study, we aimed to investigate the characteristics of pMS in Tunisian children. Patients and Methods We conducted a retrospective study over 11 years (2005–2016) including all patients diagnosed with pMS according to the International Pediatric Multiple Sclerosis Study Group (IPMSSG) criteria of 2012 and followed up in a tertiary care research center. Epidemiological, clinical, neuroimaging, laboratory, and therapeutic data were collected and analyzed. Results There were 21 patients. The male-female ratio was 1 : 3. Mean age at onset was 11 years (range: 3–17 years). Three patients had type 1 diabetes. Polyfocal presentation was preponderant (81%) with motor dysfunction in 57% of patients. Paroxysmal dystonia was noticed in 24%. All patients were diagnosed with relapsing-remitting form. Interferon beta was prescribed in 80% with a reduction of annual relapse rate. Conclusion The annual incidence of pMS in Tunisian children aged below 18 years could be estimated as 0.05 per 100,000. Singular features in our cohort were the frequent association with type 1 diabetes and the increased occurrence of dystonia. Greater awareness of pMS may be helpful to improve management strategies of children and their families.

A unique case of acute transverse myelitis with Mycoplasma pneumoniae infection

Mycoplasma pneumoniae is a common cause of respiratory tract infection. Extra-pulmonary complications of M. pneumoniae infection include neurologic complications involving the central nervous system. Myelitis is one of the most severe complications of central nervous system. We report a unique case of acute transverse myelitis associated with M. pneumoniae infection in a 3-year-old boy with particular imaging and clinical course features. Intravenous corticosteroids were prescribed with an 8 wk tapering of oral corticosteroids resulting in full recovery. We postulate an immune-mediated mechanism.

Aicardi-Goutières syndrome: a cause of CSF chronic hyperlymphocytosis.

Aicardi-Goutisyndrome (AGS) is a rare infantile encephalopathy characterized by basal ganglia calcifications, leukodystrophy, chronic pleocytosis and elevated levels of interferon-alpha in cerebrospinal fluid. AGS is a clinical ly and genetically heterogeneous syndrome. We report an early onset case of AGS. Consanguinity, similar picture in the family and course suggested a familial metabolic encephalopathy. Extended basal ganglia calcifications and leukodystrophic cha nges on cerebral imaging, cerebrospinal fluid lymphocytosis and hi gh interferon-alpha level allowed to diagnose AGS. We reviewed the literature and discussed the pathophysiology, differenti al diagnosis and treatment of this disorder.

Encéphalite chez un garçon de 12 ans

Ce garçon de 12 ans issu d’un mariage non consanguin, sans antécédents familiaux ni personnels particuliers a consulté au service d’accueil des urgences pour une instabilité à la marche, des troubles de l’élocution et de la déglutition d’installation brutale. L’examen neurologique a objectivé un syndrome tétra-pyramidal, un syndrome cérébelleux statique et cinétique, une anarthrie et une atteinte multiple des paires