No To Hattatsu最新文献

Objective: Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by the formation of hamartoma in multiple organ systems of the body. However, without a well-established cooperative system involving related departments, some organ lesions might be overlooked until symptoms appear or even until the disorder progresses. Therefore, the purpose of this study is to investigate the current status of follow-ups in the TSC patients in the Department of Child Neurology at Okayama University Medical Hospital. Methods: We performed a retrospective chart review of 38 patients with TSC who visited our hospital at least twice between January 2005 and December 2014. Patients were between 3 years and 48 years of age at their latest visit. We divided the patients into a child group and an adult group, and investigated the patients’ follow-up data while focusing on the various multiorgan systems. Results: The follow-ups were well conducted in the child group in terms of every organ. In the adult group, neuroimaging tests were unsatisfactorily performed. The kidney has not been examined in seven patients more than five years even though these patients all had kidney lesions. The lung was not been examined in 7 out of 14 female patients over 18 years of age who are most at risk for lymphangioleiomyomatosis (LAM). In 12 out of 18 child patients, echocardiograms were performed every few years, while electrocardiograms to assess underlying conduction defects were rarely performed in either age group. Conclusions: In Europe, guidelines for the management of TSC have been well established. However, in our hospital, the multiorgan system follow-up is not satisfactorily performed especially in adult patients. We decided the establishment of a TSC board in our hospital for the management of this multiorgan disorder.

A 3-month-old male was brought to our hospital due to fever, poor sucking, and a bulging anterior fontanel. His general condition was poor. Analysis of the cerebrospinal fluid (CSF) showed increases in the cell count (8/μl) and the polymorphonuclear leukocyte count (2/μl) but normal sugar (66 mg/dl) and protein (28 mg/dl) levels. A CSF smear showed no bacterial cells. The administration of antibacterial drugs was initiated, and head MRI was performed on the next day. Plain images revealed no abnormalities. However, contrast-enhanced fluid-attenuated inversion recovery (FLAIR) MRI showed clear contrast enhancement along the brain surface in the meninges of the left and right frontal and left parietal lobes and fluid retention accompanied by contrast enhancement in a part of the adjacent subdural space. These findings could be confirmed only by contrast-enhanced FLAIR MRI. A diagnosis of bacterial meningitis with an unknown cause was made, and the administration of 2 antibacterial drugs was continued. MRI on day 8 of the illness showed the disappearance of contrast enhancement, and plain FLAIR also facilitated a diagnosis of a subdural hygroma. The treatment was effective. At present, the patient is 1 year and 6 months old without sequelae. The diagnosis of bacterial meningitis in infants is difficult based on only symptoms. In its early stage with few abnormal findings in the CSF, diagnosis is sometimes difficult. Antibacterial drug administration should be immediately initiated. However, definite findings are necessary for the continuation of large amounts of antibacterial drugs. Contrast-enhanced FLAIR allows the sensitive visualization of meningeal inflammation and is useful as a complementary diagnostic method for meningitis. In addition, this technique can reveal marked inflammatory lesions such as a subdural hygroma in the early stage, providing information useful for making a diagnosis of bacterial meningitis.

CDKL5 gene mutations are the cause of symptomatic infantile epilepsy in some patients. Such patients present with partial seizures and characteristic hand movements that are often observed in patients with Rett syndrome. This clinical entity has recently been recognized as CDKL5 disorder. In a girl with CDKL5 disorder, who had been treated with combinatory therapy using many anti-epileptic drugs, we were able to control the seizures with valproate monotherapy. As a result of the monotherapy, the patient’s seizures ameliorated temporarily and her quality of life improved. Some patients show improvement in seizures during the natural course of CDKL5 disorder. Therefore, there is a possibility that this was also the case in our patient. However, the patient and her family were satisfied with the improvement in quality of life after the withdrawal of the multi-drug combinatory therapy. Thus, it is important to select the best therapy for patients with intractable epilepsy through long term follow-up.

Objective: The objective of this study was to investigate the trends in the prevalence and characteristics of unilateral spastic cerebral palsy among children born between 1988 and 2007 in Okinawa, Japan. Method: We conducted a surveillance of children with cerebral palsy using the local cerebral palsy registration system. For analysis purposes, the study was divided into two periods: periodⅠ (from 1988 to 1997) and periodⅡ (from 1998 to 2007). We performed a chi-squared test and Poisson regression analysis. Result: We observed a significant trend for an increased prevalence of unilateral spastic cerebral palsy in periodⅡ (p<0.01). The number of children with unilateral spastic cerebral palsy who were born with birth weights of 1500 g or more and/or a gestational age of 32 weeks or more was increased in periodⅡ. In addition, brain magnetic resonance imaging and computed tomography scans showed that porencephaly and periventricular white matter damage were common findings in preterm children of gestational age less than 31 weeks in period II. The most frequently observed neuroimaging feature in children with a gestational age of over 32 weeks was brain infarction. Conclusion: We found a trend for an increased prevalence of unilateral spastic cerebral palsy in periodⅡ. However, the cause of this increase is as yet unknown.

An 11-year-old boy with Lesch-Nyhan syndrome (LNS) had persistently injured himself by biting his lips and buccal mucosa since infancy. Risperidone was only partially effective in suppressing this behavior. Oral administration of S-adenosylmethionine (SAMe), involving increasing the dose from 400 mg to 1 g, resulted in the amelioration of self-injurious behavior and anxiety as well as marked improvement in his self-esteem, performance at school, and friendships. No adverse effects were noted. SAMe may have a favorable effect on symptoms of LNS by activating monoaminergic pathways and/or increasing the adenosine pool in the salvage pathway of guanosine monophosphate synthesis. Defects in these pathways have been essentially implicated in the neurological pathophysiology of LNS.

Joubert syndrome is characterized by neonatal breathing disorders that are thought to improve with age, but recent findings indicate that sleep-related breathing disorders can occur even after infancy. A 15-year-old boy who had a breathing disorder during the neonatal period developed mental retardation and hypotonia. He was diagnosed with Joubert syndrome based on the clinical course and molar tooth sign on brain MRI at 9 years of age. Daytime sleepiness developed at 15 years of age. An interview and the results of sleep questionnaires (Epworth sleepiness scale, Pediatric sleep questionnaire and Pittsburgh sleep quality index), indicated that the patient had daytime sleepiness and a sleep-related breathing disorder. Overnight polysomnography showed central apnea with an apnea hypopnea index of 16, indicating that the patient had central sleep apnea syndrome. After nighttime oxygen therapy at home for one month, the sleep questionnaires showed improved daytime sleepiness and the sleep-related breathing disorder. The improvement persisted for over 12 months thereafter. Sleep-related breathing disorders could be indicated by non-specific complaints such as daytime sleepiness and lead to appropriate therapies. Such disorders should be considered as a complication of Joubert syndrome even after infancy.

Objective: To evaluate the effects and tolerability of vigabatrin (VGB) in children with tuberous sclerosis (TS) with infantile spasms or tonic seizures. Methods: We examined the impact of VGB on a series of 17 children with TS visiting Tohoku University Hospital in Japan during April 2010 and May 2015. To minimize potential adverse effects, VGB was given to the patients for limited 6 months with titration from 30 mg/kg/day as an initial dose. Results: Main seizure types were classified into spasms (n=10) or tonic seizures (n=7). Seizure reduction was positively associated with seizure type of infantile spasms, lower maximum dosage, younger age on VGB administration, and earlier VGB treatment after the diagnosis. Seizure type of infantile spasm was an independent favorable predictor and also associated with long-term seizure reduction. Major adverse events included psychiatric symptoms (n=7) and electroretinogram (ERG) abnormalities (n=2). All symptoms were recovered by reducing the dosage of VGB. Conclusion: VGB is effective and well tolerated as first-line treatment for TS children with infantile spasms. Our “low dosage and limited period” protocol is efficient for improving seizure control as well as minimizing the potential risks of VGB.

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. Methods: Between December 2010 and November 2012, 21 children with 51 episodes of acute respiratory failure were placed on NPPV at our hospital. We investigated the ratio, background, and causes of conditions requiring endotracheal intubation. Results: Pneumonia and bronchitis caused 30 and 21 episodes of respiratory failure, respectively. Respiratory infection required endotracheal intubation in 8 of 30 episodes of pneumonia, and in none of the 21 episodes of bronchitis. Respiratory infections were caused by upper airway obstruction with large amounts of secretion (n=4), lower airway obstruction due to atelectasis (n=3) and a combination of both (n=1). The frequency of breathing physiotherapy was significantly higher for all patients who required assistance with active phlegm expulsion than in those who did not (p=0.006). More patients on endotracheal intubation also required phlegm aspiration compared with other patients (p=0.019). Conclusion: We applied NPPV to acute respiratory failure in children with severe motor and intellectual disabilities. This allowed 84% of them to avoid endotracheal intubation. Acute respiratory failure did not improve in any patient who required endotracheal intubation, but we also used NPPV with breathing physiotherapy and postural drainage. Assistance with phlegm expulsion is hampered in children with severe motor and intellectual disabilities due to conditions such as thoracic deformations, joint contracture and glossoptosis. We consider that assistance with phlegm expulsion using appropriate breathing physiotherapy with NPPV is very important for such patients.