A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.

Lennox-Gastaut syndrome (LGS) is a drug-resistant epileptic encephalopathy of childhood with a heterogeneous etiology. Recently, genome-wide association studies have led to the identification of new de novo mutations associated with this epileptic syndrome. Herein, we report an 8-year-old child with intellectual disability, severe postnatal microcephaly, Rett-like features, and LGS, carrying a de novo missense mutation in the forkhead box G1 (FOXG1) gene.

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types). Although the mutational spectra are distinct, these disorders share major features and 10% of DS patients have an inherited SCN1A mutation. OBJECTIVES AND PATIENTS 19 selected families with at least one DS patient were studied to describe the mechanisms accounting for inherited SCN1A mutations in DS.

[DRESS syndrome, a drug reaction which remains bad known from paediatricians].

The DRESS syndrome (Rash with Eosinophilia and Systemic Symptoms) is a drug hypersensitivity reaction poorly known by paediatricians. It occurs within 1 to 8 weeks of treatment. Clinical features associate in variable patterns, fever, rash, lymphadenopathies, arthritis and potentially life-threatening damage (hepatitis, nephritis, pneumonitis), hyperleucocytosis and eosinophilia.

[Isolated familial corpus callosum agenesis prognosis].

Agenesia of corpus callosum belongs to a group of cerebral malformations whose prognosis is uncertain. In such cases, assessment of prognosis may benefit from eventual associated fetal, obstetrical or familial features. We report a patient with an isolated corpus callosum agenesia that led to the discovery of a similar malformation in her father.

Relapse of herpes simplex encephalitis.

We report five children who had recurrent central nervous system signs after conventional acyclovir therapy for herpes simplex encephalitis. Secondary exacerbation was characterized clinically by severe ballismic movement disorder in all five children, associated with fever, impairment of consciousness, and seizures. Biologic analysis in all children and magnetic resonance imaging and neuropathology studies of the brain in three cases were compatible with inflammatory reaction.