Congenital basal meningoceles with different outcomes: a case series.

Background: Basal meningoceles are rare congenital defects and often clinically occult until they result in life-threatening complications. Therefore, it is important to know the diagnostic clues to early diagnosis.

Case Presentation: We describe three cases of congenital basal meningocele in a 3-year-old Japanese boy, a 1-month-old Japanese baby boy, and a 10-month-old Japanese baby girl.

Evolution into moyamoya disease in an infant with internal carotid artery aneurysms.

Introduction: Moyamoya disease (MMD) is characterized by progressive stenosis and occlusion in the terminal portion of both internal carotid arteries (ICAs) and the formation of an abnormal vascular network. Because of the fragile structure of the collateral vessels, MMD is frequently accompanied by intracranial aneurysms that are mainly located within the abnormal basal network or the circle of Willis. However, the association between MMD and aneurysms of the ICAs has never been reported previously.

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.

Background: Genetic aberrations in PAFAH1B1 result in isolated lissencephaly sequence (ILS), a neuronal migration disorder associated with severe mental retardation and intractable epilepsy. Approximately 60 % of patients with ILS show a 17p13.3 deletion or an intragenic variation of PAFAH1B1 that can be identified by fluorescence in situ hybridization (FISH) analysis or gene sequencing.

Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures.

Eyelid myoclonia with absences is classified as a unique type of generalized seizure. Its pathogenesis is proposed to involve the functional abnormalities in cortical-subcortical networks. Here, we describe the case of a 7-year-old boy who had eyelid myoclonia with absences, along with focal motor seizures.

Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.

Voltage-gated sodium channel Nav 1.6, encoded by the gene SCN8A, plays a crucial role in controlling neuronal excitability. SCN8A mutations that cause increased channel activity are associated with seizures.

Glycemic control and motor development in a patient with intermediate DEND.

The most common cause of neonatal diabetes, KCNJ11 gene mutation, can manifest as a neurological disorder. The most severe form consists of a constellation of developmental delay, epilepsy, and neonatal diabetes (DEND). Intermediate DEND (iDEND) refers to a milder presentation without epilepsy.

Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series.

Introduction: Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic dyskinesia because treatment with low doses of anticonvulsants is effective for eliminating the clinical manifestations.

Improved prefrontal activity in AD/HD children treated with atomoxetine: a NIRS study.

Background/aims: Atomoxetine (ATX), a selective norepinephrine reuptake inhibitor, is the first approved non-stimulant drug for treatment of attention deficit/hyperactivity disorder (AD/HD). The present study examined the effects of long-term treatment with ATX on prefrontal hemodynamic activity in AD/HD children during a continuous performance task (CPT) using near-infrared spectroscopy (NIRS).

Methods: Prefrontal hemodynamic activity was measured in 12 children with AD/HD during experimental sessions conducted before and 6 months or more after starting ATX treatment.