[Effects and limits of acute noninvasive positive pressure ventilation in children with severe motor and intellectual disabilities with pneumonia/bronchitis].

Objective: We have frequently applied noninvasive positive pressure ventilation (NPPV) to treat acute respiratory failure in children with severe motor and intellectual disabilities. We investigated the features and causes of conditions requiring endotracheal intubation. We aimed to determine whether phlegm expulsion using appropriate breathing physiotherapy with NPPV could avoid the need for endotracheal intubation in such patients.

[Effectiveness of continuous infusion of tizanidine (Ternelin) via a feeding tube for patients with the mixed type of tetraplegia].

Objective: Severe muscle hypertonia in patients with the mixed type of tetraplegia may be associated with significant deterioration in the quality of life of the patients. Intermittent use of oral muscle relaxant drugs, for example, Tizanidine (Ternelin), which is a fast-acting muscle relaxant, can provide relief from the severe hypertonia in these patients, but only for short durations.

Methods: We conducted a retrospective study of the effect of continuous infusion of tizanidine via a feeding tube on the severe systemic muscle hypertonia in patients with the mixed type of tetraplegia.

[Status of children with food allergy who were prescribed an adrenaline autoinjector (epipen)].

Purpose: Both to evaluate the characteristics of food allergic children who were prescribed an adrenaline autoinjector and to assess whether it was used appropriately.

Methods: The characteristics of food allergic children who were prescribed an adrenaline autoinjector were investigated. Among these children, those who experienced severe anaphylaxis due to inadvertent ingestion were analyzed, as was whether and how the autoinjector was used.

Pathological fracture and pyogenic osteomyelitis in a patient with type 2 Gaucher disease.

In Gaucher disease (GD), enzyme replacement therapy (ERT) results in the alleviation of hematological abnormalities and visceral infiltration as well as improvement in quality of life and life-span. However, several years may be required for skeletal manifestations, which are usually observed in type 1 and 3 GD, to respond to ERT. Infants with type 2 GD rarely present skeletal manifestations because most of these patients die within the first 2 years of life before they develop skeletal involvement.

[Changes in serum levels of selenium, zinc and copper in patients on a ketogenic diet using Ketonformula].

Objective: Ketogenic diets tend to cause trace mineral deficiencies. Ketonformula is a foumula for a ketogenic diet developed by Meiji Co Ltd in Japan. No reports are available on the trace mineral deficiencies associated with a use of Ketonformula.

Reversible splenic lesion in a patient with Febrile Infection-Related Epilepsy Syndrome (FIRES).

Febrile infection-related epilepsy syndrome (FIRES) is a severe epileptic syndrome that manifests with refractory seizures or status epilepticus in previously healthy children after banal febrile illness. The neuroimaging findings in the acute phase of FIRES are nonspecific or normal. We report the case of a 7-year-old boy with FIRES who presented with a reversible lesion in the splenium of the corpus callosum on brain magnetic resonance imaging (MRI).

[Efficacy, safety and tolerability of high-dose topiramate with rapid dose titration in symptomatic West syndrome].

Objective: We investigated the efficacy, safety, and tolerability of high-dose topiramate with rapid dose titration in 12 children with symptomatic West syndrome who suffered from severe motor and intellectual disabilities.

Methods: Topiramate was introduced as add-on therapy at the daily dose of 1 mg/kg/day, followed by increments of 2 mg/kg at 3- or 4-day intervals, up to a maximum of 19 or 20 mg/kg/day. The ages at the start of topiramate therapy ranged from 5 to 22 months.

Grisel syndrome as a complication of Kawasaki disease: a case report and review of the literature.

Unlabelled: Grisel syndrome is a non-traumatic atlantoaxial subluxation and a rare complication of any inflammatory condition of the upper neck and otolaryngological procedures. Delayed diagnosis causes neurological impairment, ranging from radiculopathy to paralysis and death. Kawasaki disease is a very frequent and important acute febrile vasculitis of childhood that is seen worldwide, and upper neck involvement (cervical lymphadenopathy) is one of the common symptoms of Kawasaki disease.

Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.

In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor α4 subunit mutation (S252L). We followed the siblings of this family, and found that the elder brother had Asperger's disorder without mental retardation (MR) and the younger brother had autistic disorder with profound MR.

Passive toothbrushing-induced seizures: report of a severely disabled girl.

Toothbrushing-induced seizures are rare reflex seizures triggered by the brushing of one's own teeth. We encountered an 11-year-old girl with severe mental retardation, hypotonic cerebral palsy and epilepsy who presented with toothbrushing-induced seizures. She had had spontaneous brief tonic seizures several times a day since the age of 1 year and 2 months and started presenting with the same type of seizures induced by toothbrushing from the age of 8 years.

[Ketogenic diet may control seizures by increasing the binding potential of the benzodiazepine receptor: a speculation from the [11C] flumazenil-PET study].

The ketogenic diet (KD) is a high-fat, low-protein, low-carbohydrate diet which is effective in the treatment of medically refractory epilepsy. Several theories have been proposed to explain the mechanism underlying the anticonvulsant efficacy of the KD, however, the precise anticonvulsant mechanism of the KD is still unknown. We speculated the mechanism underlying the effect of the KD in patients with intractable epilepsy, based on the results of the [11C] flumazenil (FMZ)-positron emission tomography (PET) study.

Pyruvate therapy for mitochondrial DNA depletion syndrome.

Background: Mitochondrial DNA depletion syndromes are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. Sodium pyruvate has been reported to have a therapeutic effect in mitochondrial diseases.

Methods: We analyzed the effects of 0.

[Prednisolone treatment for Duchenne muscular dystrophy].

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder and is the most common form of muscular dystrophy. Affected children develop muscle weakness in early childhood. Only steroids have been shown with evidence to improve muscle function in patients with DMD.

Efficacy and tolerability of modified Atkins diet in Japanese children with medication-resistant epilepsy.

Ten Japanese patients aged 1.5-17years with medication-resistant epilepsy were placed on the modified Atkins diet (MAD) for 3weeks during admission to our hospital. Dietary carbohydrate was restricted to 10g per day.

Initial and long-term effects of cloxazolam with intractable epilepsy.

Cloxazolam has been used mainly as an anxiolytic agent. The present study was designed to evaluate the effectiveness of cloxazolam as an add-on antiepileptic drug in patients with intractable epilepsy. A total of 32 patients with intractable epilepsy were treated with cloxazolam: 13 with generalized epilepsy, 15 with focal epilepsy, and 4 with undetermined type of epilepsy.

Epilepsy in pervasive developmental disorder without brain MRI abnormalities.

Background: Epilepsy has been reported in patients with pervasive developmental disorder (PDD), with an incidence ranging from 5% to 40%; however most of the studies included patients with brain magnetic resonance imaging (MRI) abnormalities (e.g., tuberous sclerosis) and patients with epilepsy whose seizure onset was in the first year of life.

Modified Atkins diet for the treatment of nonconvulsive status epilepticus in children.

The authors describe the use of a modified Atkins diet for the treatment of 2 children with nonconvulsive status epilepticus. Patient 1 was a 4-year-and-11-month-old girl diagnosed with frontal lobe epilepsy. Since the age of 3 years and 10 months, she had daily nonconvulsive status epilepticus resistant to antiepileptic agents.

[Epidemiological study of cerebral palsy in Shiga Prefecture, Japan, during 1977-2000. Part 3: clinical features of cerebral palsy at six years of age].

Clinical features of cerebral palsy (CP), including the types of CP, severity of disability and complications were evaluated at six years of age in 569 children with CP in Shiga Prefecture born in 1977-2000. Spastic diplegia and tetraplegia accounted for the vast majority, 43% and 28%, respectively. Hemiplegia was present in 18%, dyskinetic type in 6% and ataxic type in 5% of the subject children respectively.

[Epidemiological study of cerebral palsy in Shiga Prefecture, Japan, during 1977-2000. Part 2: etiologies and risk factors of cerebral palsy in Shiga prefecture].

Etiologies and risk factors of 569 patients with cerebral palsy (CP) in Shiga Prefecture born during 1977-2000 were investigated. The patients with CP born at preterm and at term were separately analyzed. The main etiologies or risk factors for CP in preterm children were periventricular leukomalacia (PVL, 58%), multiple births (25%) and mechanical ventilation (45%).

[Epidemiological study of cerebral palsy in Shiga Prefecture, Japan, during 1977-2000. Part 1: incidence pattern of cerebral palsy in Shiga Prefecture with reference to birth weight and gestational age].

The prevalences of cerebral palsy (CP) among 6-year-old children in Shiga Prefecture born during 1977-2000 were compared in eight successive 3-year periods (period I-VIII) with reference to birth weight and gestational age. During the 24-year surveillance period, among 349,514 children born in Shiga Prefecture, 569 children had CP at the age of 6 years, thus the prevalence was 1.63 per 1000 live births.

[Sulthiame treatment for patients with intractable epilepsy].

We examined the antiepileptic effect and side effects of sulthiame in 28 patients with intractable epilepsy. The patients' ages ranged from 6 months to 34 years (mean: 8 years 7 months), and 26 of them were under 18-years-old. Nineteen patients had severe physical and mental disabilities.

[A follow up study of spastic diplegia in Shiga Prefecture--ambulatory function and career course after school age].

This study investigated the changes in ambulatory function in individuals with spastic diplegia from 6 (the age at which children start going to elementary school in Japan) to 18 years of age (the age at which children leave high school) in Shiga Prefecture. Sixty-two patients with spastic diplegia (19-28 years of age, born between 1977 and 1986) were studied. Ambulatory function at 18 years of age was compared with that at 6 years of age.

Three Japanese patients with glucose transporter type 1 deficiency syndrome.

We report three Japanese patients with glucose transporter type 1 deficiency syndrome (Glut1DS). Two patients had a normal erythrocyte 3-O-methylglucose (3OMG) uptake, one with a previously reported T295M substitution and the other with a novel 12-bp insertion at nt 1034-1035, ins CAGCAGCTGTCT. The third patient, with deficient 3OMG uptake, had a previously reported hot-spot mutation, R333W.

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy.

While there is an abundance of literature describing the association of chromosome aberrations with epilepsy, only a few refer to the detailed features of epilepsy. It is important to investigate the associations between specific chromosome abnormalities and features of epilepsy to identify genes involved in epilepsy and treat them more effectively. We investigated the correlation between specific chromosome aberrations and epilepsy by sending questionnaires to the members of Kyoto Multi-institutional Study Group of Pediatric Neurology.