Intra-individual cognitive imbalance in ASD between perceptual reasoning and ambiguity-solving related to tool use: Comparison among children exhibiting ASD, AD/HD, and typical development.

Objective: Several studies have suggested that objective deficits in the processing of abstract information in conjunction with an enhanced ability to process concrete information is a definitive characteristic of autism spectrum disorder (ASD). However, this cognitive imbalance is not necessarily clear in high-functioning autistic individuals who do not display absolute differences relative to typically developing (TD) populations. Thus, the purpose of this study was to identify this cognitive tendency in high-functioning autistic individuals using intra-individual cognitive comparisons.

Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.

Long-term outcome of West syndrome with a NR2F1 mutation.

Successful treatment of immune tolerance induction with rituximab in a patient with severe hemophilia B and inhibitor.

Inhibitor development is one of the major problems in hemophilia patients. Whereas the inhibitor incidence in hemophilia A is estimated to be as high as 25-30%, it appears to be less frequent in hemophilia B, occurring in about 1-3% of hemophilia B patients. There are only a few case reports about immune tolerance induction (ITI) for hemophilia B patients.

Clinical features and long-term outcome of a group of Japanese children with inflammatory central nervous system disorders and seropositivity to myelin-oligodendrocyte glycoprotein antibodies.

Background: Myelin-oligodendrocyte glycoprotein and aquaporin-4 have been extensively analyzed as targets for humoral immune reactions in central nervous system (CNS) demyelinating diseases, and the results indicated a possible role of these antibodies in the pathogenesis of various demyelinating diseases.

Objective: To investigate the antibody titer levels against myelin-oligodendrocyte glycoprotein and aquaporin-4 in pediatric patients with inflammatory CNS disorders, and to evaluate clinical significance to study anti-myelin-oligodendrocyte glycoprotein antibodies.

Methods: Sera at onset from patients with acute disseminated encephalomyelitis (ADEM) in 7, optic neuritis (ON) in 5, pediatric MS in 4 and neuromyelitis optica in one were tested for myelin-oligodendrocyte glycoprotein and aquaporin-4 antibodies using cell-based assays with live transfected cells.

Utility of thallium-201 scintigraphy in Tolosa-Hunt syndrome.

Tolosa-Hunt syndrome (THS) is a rare disorder, especially in the pediatric population, characterized by unilateral painful ophthalmoplegia with a relapsing-remitting course. Because the diagnosis of THS is based on the exclusion of other causes of painful ophthalmoplegia, attention should be paid to possible alternative diagnoses. Thallium-201 chloride ((201)Tl) scintigraphy has been used to evaluate tissue histology in clinical oncology with a marker, the retention index (RI).

[Case of a pharyngeal-cervical-brachial variant of Guillain-Barré syndrome without pharyngeal palsy].

We report a case of a 3-year-old boy with acute muscle weakness that initially affected neck and all four limbs but later vanished from the lower limbs. Pharyngeal palsy was not observed during the course. All deep tendon reflexes were absent.

Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly.

Hemimegalencephaly (HME) presents as severe refractory seizures and requires early surgical treatment to prevent progression to catastrophic epilepsy. Single-photon emission computed tomography (SPECT) and positron emission tomography (PET) are useful imaging techniques for the presurgical evaluation of patients with intractable epilepsy. However, the results in HME are variable and no study has compared SPECT and PET performed at around the same time.

[A case of bipolar I disorder with autistic disorder showing "waiting-for-instruction" as a depressive symptom].

We have experienced a case of bipolor I disorder complicated by mental retardation and autistic disorder. Acquired daily life activities such as eating, clothing and toileting without assistance were gradually lost during depressive periods, which was consistent with the previous reports. Before losing daily life skills, the patient could no longer perform daily life activities without consecutive instructions.

Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study.

We, for the first time, used functional neuroimaging analyses for a girl with early myoclonic encephalopathy (EME). The interictal single photon emission computed tomography (SPECT) and [18F]-fluoro-D-deoxyglucose positron emission tomography (FDG-PET) at 1 month of age showed hypoperfusion and hypometabolism of bilateral basal ganglia, thalami, and the right parietooccipital cerebral cortices, showing that there is profound dysfunction of the basal ganglia and thalamus as well as cerebral cortex. On the other hand, subtraction ictal SPECT of tonic spasms clearly showed hyperperfusion of the bilateral basal ganglia, thalami, brainstem, and deep cortical layer of bilateral frontoparietal cortices.

Successful treatment with sumatriptan in a case with cyclic vomiting syndrome combined with 18q- syndrome.

The authors present a 14-year-old girl with 18q- syndrome combined with cyclic vomiting syndrome. Since the age of 5 years, she has been admitted to hospital 30 times. Despite trying many prophylactic treatments, no medication has inhibited the vomiting attacks successfully.

Dynamic cortical activity during spasms in three patients with West syndrome: a multichannel near-infrared spectroscopic topography study.

Purpose: To investigate spatial and temporal cortical activity during clusters of naturally occurring epileptic spasms in patients with West syndrome (WS) by using multichannel near-infrared spectroscopy (mNIRS).

Methods: Conventional magnetic resonance imaging (MRI) and interictal and ictal single-photon emission computed tomography (SPECT) were carried out in three patients with WS. Thereafter, cortical hemodynamics during naturally occurring epileptic spasms were measured by mNIRS with simultaneous video/electroencephalographic (EEG) monitoring.

Theophylline impairs memory/learning in developing mice.

We studied the relationship between theophylline and memory/learning using an elevated plus-maze test and measuring spontaneous locomotor activity in developing mice. There were no significant differences in transfer latency (TL) in 21-, 30- and 42-day-old mice in the acquisition trial, but theophylline significantly prolonged TL in comparison with the control group in 21- and 30-day-old mice in the retention trial (n = 20; 21-day-old mice, P = 0.0009; 30-day-old mice, P = 0.

[Improvement of action myoclonus in a patient with dentatorubral-pallidoluysian atrophy by piracetam].

We report a 13-year-old girl with dentatorubal-pallidoluysian atrophy (DRPLA), presenting clinically as progressive myoclonic epilepsy. The action myoclonus, which severely impaired her daily life, was markedly improved by administration of piracetam, a drug reportedly useful for myoclonus of cortical origin. In our case, piracetam effectively suppressed severe subcortical myoclonus of DRPLA, suggesting that the drug may be useful in the treatment of both cortical, and subcortical myoclonus.

[A five-year-old girl with epilepsy showing forced normalization due to zonisamide].

A case of forced normalization in childhood is presented. When zonisamide was administered to a five-year-old girl with intractable epilepsy, disappearance of seizures was accompanied by severe psychotic episodes such as communication disturbance, personal relationship failure, and stereotyped behavior, which continued after the withdrawal of zonisamide. These symptoms gradually improved by administration of fluvoxamine, however epileptic attacks reappeared.

[Treatment with fluvoxamine against self-injury and aggressive behavior in autistic children].

Five autistic children underwent fluovoxamine administration. Their self-injury and aggressive behaviors did not respond psychotherapy and other medication with haloperidol, carbamazepine. The improvement of the behaviors was excellent in two patients, and partial in one patient.