Hedia Klaa

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.

Postencephalitic parkinsonism and selective involvement of substantia nigra in childhood

Parkinsonism is a rare complication of encephalitis in childhood. Association to an isolated involvement of substantia nigra is exceptional. Mechanisms of nigral cells neurotropism remain hypothetic. We report on three children presenting with postencephalitic parkinsonism and selective involvement of substantia nigra, with literature review and we discuss pathogenic mechanisms.

Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease characterized by seizures in neonates or infants, which is unresponsive to antiepileptic drugs but controlled by pyridoxine. Without prompt treatment, continued seizures and severe encephalopathy result. Mutations in the ALDH7A1 gene encoding α-amino-adipic semialdehyde (α-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE.

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.

Acquired demyelinating syndromes of the central nervous system in children: study of a cohort of 47 cases

Multiple sclerosis (MS) is a chronic neurological disorder defined by recurrent episodes of central nervous system (CNS) demyelination, ultimately culminating in physical and cognitive disability. While it is rare in the paediatric population, MS in children is likely to have a profound impact on their lifetime academic, social, and vocational achievements. The advent of disease-modifying therapies for MS and the recent evidence of improved long-term outcome, associated with early initiation of therapy, emphasize the need for prompt diagnosis and coordinated care for children affected with MS.

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.

Lésion mésencéphalique avec rehaussement annulaire : tuberculome ou toxoplasmose ?

Cette fillette de 18 mois, sans antécédents familiaux ni personnels notables, avait présenté brutalement au réveil une impotence fonctionnelle de l’hémicorps gauche avec asymétrie faciale. Il n’y avait pas de contexte traumatique ou infectieux. L’examen clinique pratiqué quelques heures après l’installation des troubles a objectivé une hémiparésie gauche flasque, un signe de Babinski à gauche et une parésie faciale périphérique droite. L’état général était conservé et les constantes hémodynamiques étaient stables. Le reste de l’examen clinique était sans particularités. Devant ce syndrome alterne de type Millard-Gübler de survenue brutale, un accident vasculaire cérébral (AVC) protubérantiel a été suspecté. Les examens biologiques (numération-formule sanguine, glycémie, vitesse de sédimentation, taux de protéine C réactive (CRP), ionogramme sanguin, transaminases, gamma-glutamyl transpeptidase, bilirubine totale et conjuguée, azotémie, créatininémie) se sont avérés normaux. Une imagerie par résonance magnétique (IRM) encéphalique a été réalisée 36 heures après l’installation des troubles (fig. 1). Cet examen comportait des coupes en pondération T2, FLAIR, diffusion, perfusion et T1 sans et avec injection intraveineuse de gadolinium.

A Case of Progressive Chorea Resulting From GLUT1 Deficiency

Glucose transporter 1 (GLUT1) deficiency syndrome is caused by solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) gene mutations. These mutations cause impaired glucose transports into the brain, leading to cerebral energy deficiency. This disease’s most common form is typically characterized by infantile-onset, intractable epileptic encephalopathy, acquired microcephaly, psychomotor delay, and hypoglycorrhachia. Recently, the clinical spectrum of GLUT1 deficiency syndrome has been broadened, making the diagnosis challenging in clinical practice.