Takahiro Motoki

Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients

Duchenne muscular dystrophy (DMD) is a progressive muscular disorder in which respiratory and heart failures are the main causes of death. Intensive intervention in respiratory and cardiac function has dramatically improved the prognosis; however, dysfunction in other multiple organs may emerge in the later stages of the disease. We report the case of four non-ambulatory DMD patients who presented with renal failure. Common findings included decreased fluid intake, use of diuretics, and presence of chronic heart failure. The levels of serum cystatin C (CysC), a marker of kidney function unaffected by reduced muscle mass, were elevated in all four patients. In two patients, renal failure improved by increasing fluid intake, and discontinuing or reducing the dose of diuretics. The findings suggest that non-ambulatory DMD patients are at a risk of reduced kidney perfusion, which potentially leads to prerenal failure. Therefore, in DMD patients, dehydration signs and CysC levels should be monitored.

Idiopathic Childhood Occipital Epilepsy of Gastaut: Report of 12 Patients

This study sought to present clinical and outcome data of patients with idiopathic childhood occipital epilepsy of Gastaut, to validate previously reported characteristics of this epilepsy. The study group was comprised of 12 affected children (three boys and nine girls), with a median age of onset at 10.3 years. Common ictal manifestations included elementary visual hallucinations (75.0%), blindness or blurring of vision (50.0%), headache (50.0%), and secondarily generalized tonic-clonic seizures (58.3%). Interictal electroencephalography revealed occipital spike-wave paroxysms reactive to eye closure and opening in all patients, accompanied by spike-wave activity in the extra-occipital areas in four (33.3%), and by generalized spike-wave discharges in two (16.7%). One patient exhibited the onset of occipital lobe seizures 1 year after manifesting absence epilepsy. Seizure remission occurred in 81.8% of cases, in half of which medication was discontinued by late adolescence. This study confirmed the previously delineated electroclinical features of epilepsy syndrome, with additional aspects including the frequent association of generalized tonic-clonic seizures and atypical evolution from childhood absence epilepsy.

Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister–Hall syndrome

Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH presenting with infantile spasms without hypsarrhythmia. [(18)F]fluoro-deoxyglucose positron emission tomography scan performed during the period of epileptic spasms demonstrated glucose hypermetabolism of the HH, which resolved after cessation of the spasms with adrenocorticotropin hormone treatment. No concurrent increased metabolic activity in the lenticular nuclei or brainstem was observed in the ictal or interictal states. The present case suggests that HHs may be involved in the pathogenesis of infantile spasms, possibly with propagation of epileptic discharges from the hamartoma to the descending spinal pathway.

Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations

OBJECTIVE Neurological manifestations including psychomotor developmental delay and epilepsy in patients with Angelman syndrome caused by ubiquitin protein ligase E3A (UBE3A) mutations has been considered similar but is relatively milder than that in patients with deletion-type Angelman syndrome. This makes the diagnosis of the former subgroup often difficult. We here characterized epilepsy, specifically the types of tremulous movement, in 4 patients (age, 3-38years) with Angelman syndrome caused by UBE3A mutations. METHODS Ictal electroencephalography was used to record episodic tremors in all study patients. Jerk-locked averaging was performed using digital electroencephalography and surface electromyogram data from patients who were monitored for 24h. RESULTS All patients had tremors in the limbs, head, and trunk, which resulted in 2 patients falling backward. These tremors lasted several seconds, and could emerge in clusters for hours in older patients. In addition, the tremors coincided with 7-8Hz rhythmic activity with a frontocentral predominance, diffuse spike-wave bursts, or no apparent change on electroencephalography. In 2 patients, these tremors were confirmed as cortical myoclonus using jerk-locked averaging. The other seizure types were isolated generalized myoclonus and tonic seizures. None of the patients experienced atypical absence seizures. Levetiracetam therapy was effective in controlling the myoclonic events in 2 of the 3 patients. CONCLUSION Semirhythmic myoclonus is common in patients with Angelman syndrome caused by UBE3A mutations, and such myoclonic events are often life disabling. The preserved expression of gamma-aminobutyric acid type A receptor subunit genes located proximal to UBE3A might explain the low prevalence of absence seizures in this population.

Atypical childhood absence epilepsy with preceding or simultaneous generalized tonic clonic seizures

OBJECTIVE Although the current diagnostic criteria for childhood absence epilepsy (CAE) do not specifically exclude children with generalized tonic clonic seizures (GTCSs) occurring before or early in the course of the active absence seizures, some workers have suggested that they should be interpreted as doing so. The aim of this study was to compare the clinical features between children with typical CAE and those with atypical CAE with preceding or simultaneous episodes of GTCS (atypical CAE-GTCS). METHODS A total of 11 patients with atypical CAE-GTCS and 30 with typical CAE were identified by using the current CAE criteria. Their clinical data, including age, sex, family history of epilepsy, personal history of febrile convulsions, onset ages of absences and GTCS, treatment, and outcome were statistically analyzed. RESULTS The two groups had the same mean onset age of absences (6years), and their seizure outcome was comparably favorable in terms of both absences and GTCS. There was no significant difference in other clinical data except for the onset age of GTCS between the groups. CONCLUSION These findings show the similarity in the main clinical features between the groups, suggesting that some patients with atypical CAE-GTCS may have a variant form of CAE with early onset of GTCS.

What information can change the attitude of teachers toward the human papillomavirus vaccine

We conducted a self‐administered survey on the perception of teachers toward human papillomavirus (HPV) vaccine to determine the ways to increase their willingness to encourage its use.

Therapeutic Effect of Linezolid in Children With Health Care–Associated Meningitis or Ventriculitis

We evaluated the efficacy of linezolid treatment in 6 children with health care–associated meningitis or ventriculitis (HCAMV) caused by gram-positive cocci. All children were diagnosed and treated at the Ehime University Hospital between January 2010 and December 2017. Of these, 5 were treated with linezolid as an empirical therapy. In these 5 patients, vancomycin was initially used but was changed to linezolid because of cerebrospinal fluid (CSF) culture positivity (n = 3) and a high minimum inhibitory concentration of vancomycin (n = 2). The most common HCAMV pathogens were methicillin-resistant coagulase-negative staphylococci (n = 3). In 3 patients, vancomycin concentration was low in CSF but reached the target concentration in serum, while linezolid concentration was high in both CSF and serum. HCAMV treatment using antimicrobial agents with poor CSF penetration may increase the likelihood of therapy failure. Linezolid is more susceptible as the first-line treatment for HCAMV compared with vancomycin.

Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan

BACKGROUND Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by homozygous mutations in the SMN1 gene. SMA has long been known to be the most common genetic cause of infant mortality. However, there have been no reports on the epidemiology of infantile SMA (types 1 and 2) based on genetic testing in Japan. In this study, we estimated the incidence of infantile SMA on Shikoku Island, which is a main island of Japan and consists of four prefectures: Ehime, Kagawa, Tokushima and Kochi. METHODS A questionnaire was sent to 91 hospitals on Shikoku Island to investigate the number of SMA infants born from 2011 to 2015. A second questionnaire was then sent to confirm the diagnoses of SMA based on clinical and genetic features. RESULTS Responses were received from all of the hospitals, and four patients were diagnosed with infantile SMA among 147,950 live births. We estimated the incidence of infantile SMA patients as 2.7 per 100,000 live births (95% confidence interval, 0.1-5.4). A comparison of the four prefectures indicated that the incidence of infantile SMA was significantly higher in Ehime Prefecture than in the other three prefectures; 5.6 per 100,000 live births (95% confidence interval, -0.7 to 11.9) in Ehime Prefecture and 1.1 per 100,000 live births (95% confidence interval, -1.0 to 3.1) in the other prefectures. CONCLUSION We estimated the incidence of infantile SMA in an isolated area of Japan. For more precise determination of the incidence of infantile SMA, further studies that include neonatal screening will be needed.

Differences in automated analyzers for assessing the use of imprecise serum chloride concentrations as indirect predictors of serum bromide concentrations

Although bromide (Br) is used to treat intractable epilepsy, serum Br concentrations are not routinely analyzed. The present study measured serum Br(-) and Cl(-) concentrations in Br-treated epileptic patients, showing a significant correlation between Br(-) and imprecise Cl(-) concentrations, which suggested the use of a unique correlating equation for each diagnostic tool. Results indicated that imprecise Cl(-) concentrations are useful markers for measuring appropriate serum Br(-) levels in epileptic patients.