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Volume 39, Issue 6
Displaying 1-12 of 12 articles from this issue
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[in Japanese]2007 Volume 39 Issue 6 Pages 414
Published: November 01, 2007
Released on J-STAGE: December 15, 2011
JOURNAL FREE ACCESSDownload PDF (235K) -
[in Japanese]2007 Volume 39 Issue 6 Pages 415-416
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSDownload PDF (1382K) -
Kayoko Saito2007 Volume 39 Issue 6 Pages 417-422
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSAdvances in molecular genetics have made great contributions to the development of genetic medicine. Chromosomal and geneticbiochemical analyses as well as DNA-based testing have been performed clinically as laboratory tests. Because we can now obtain more accurate molecular diagnoses, we can predict the prognosis of a patient or diagnose a patient prenatally or presymptomatically. As genetic testing conveys important genetic information that remains unchanged throughout an individual's lifetime, there are some important issues for discussion. These include informed consent before testing, protection of an individual's genetic information, handling of specimens used in testing, and genetic counseling before and after testing. In this review, we discuss two examples of genetic counseling for Duchenne muscular dystrophy and myotonic dystrophy, as well as the system of providing genetic counseling.View full abstractDownload PDF (1016K) -
Kiyotaka Murakami2007 Volume 39 Issue 6 Pages 423-426
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSWe evaluated the problems of physically disabled children in schools, and clarified the roles of school physicians and the appropriate state of child neurologists.
The range and severity of disabilities of disabled children in schools have gradually been increasing. Although nurses were assigned to provide medical care, the roles of school nurses differ among schools. In addition, about 50% of primary care physicians for these children are not Board-Certified Child Neurologists. Therefore, the instructions of medical care by primary care physicians to teachers and nurses are not well structured, and increase the physical and mental stress of teachers and school nurses. Thus the importance of the roles of school physicians has been increasing.
As a school physician, I would request the followings to the Japanese Society of Child Neurology: 1) a proposal concerning support for commuting methods, 2) further improvement in postgraduate education in medical care and support for physically disabled children, 3) the standardization of written instructions for school, and 4) a proposal concerning the roles of nurses in school for disabled childrenView full abstractDownload PDF (1343K) -
Ambulatory Function and Career Course after School AgeJunko Suzuki, Masatoshi Ito, Tatsuya Fujii, Tomoko Miyajima2007 Volume 39 Issue 6 Pages 427-431
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSThis 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.
Ambulatory ability tended to improve up to 9 years of age, and was maintained at its optimal level between the age of 9 and 11. In some patients, ambulatory function decreased thereafter. Of 62 patients, 43 (69%) attained unaided ambulation, and 48 (77%) could walk with or without the use of crutches by the age of 18. Those who could walk unaided at the age of 6 years (39 of 62; 63%) maintained independent ambulation at the age of 18 years, although some complained of pain and/or fatigue.
Employment at 18 years of age was limited to individuals who could walk with or without crutches. Of two wheelchair-bound patients, one went on to study at the university level and the other went on to a special school. When children with spastic diplegia reached age 18, their career course correlated with the degree of mental retardation. Individuals without mental retardation were employed or went on to higher education.View full abstractDownload PDF (802K) -
Seiichiro Yoshioka, Kenji Sugai, Yoshinao Fujikawa, Hirofumi Komaki, E ...2007 Volume 39 Issue 6 Pages 432-435
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSWe report a case of a male infant with refractory epilepsy, demonstrating hemimegalencephalyw ith slowly progressive expansion. Thepatient experienced his first seizure at 4 months of age. Subsequently, tonic seizures occurred very frequently despite extensive antiepilepticmedications, and his development deteriorated. Cranial magnetic resonance imaging (MRI) at 4 months of age showed focal corticaldysplasia in the right opercular area. This focal lesion gradually expanded, and became thickened. Five years later, the dysplastic lesionoccupied most of the right cerebral hemisphere and the volume of the right hemisphere increased, indicating hemimegalencephaly. He hadprofound motor and intellectualr etardation. In the abnormalc erebral hemisphere, f luorodeoxyglucose-positroenm issiont omography (FDG-PET) showed marked hypometabolism, and ictal single photon emission computed tomography (SPECT) showed hyperperfusion, more pronouncedin the right frontal area. These findings are consistent with a hemimegalencephaly.H emimegalencephalyw ith such a progressive expansionhas never been described previously. These findings are consistent with a hemimegalencephaly showing progressive expansion, which hasnever been described previously.View full abstractDownload PDF (3058K) -
Keiko Hirano, Hideo Aiba, Masayuki Yano, Seiji Watanabe, Yoshinori Oku ...2007 Volume 39 Issue 6 Pages 436-439
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSWe report a 17-year-old boy who was diagnosed as autoimmune encephalitis with various neurological complications such as hemiplegia, aphasia and seizures. An autoimmune process was considered to be responsible for the repeated episodes of encephalitis because the symptoms were highly responsive to steroids and anti-glutamate receptor antibodies were detected in the CSF. After administration of the immunosuppressant tacrolimus, we could taper the steroid dosage. He has had no relapse for three years to date. We demonstrated the possibility of steroid-sparing treatment with tacrolimus for a patient with steroid-responsive encephalitis. There were few reports describing tacrolimus therapy for encephalitis. Tacrolimus may be effective for selected patients with recurrent encephalitis in which an autoimmune mechanism is considered as the pathogenesis.View full abstractDownload PDF (1284K) -
Tsuyoshi Oomi, Eiji Nakagawa, Yoshinao Fujikawa, Hirofumi Komaki, Kenj ...2007 Volume 39 Issue 6 Pages 440-443
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSA fever of unknown origin developed in a patient with sequelae of acute encephalopathy who had received dantrolene for severe spasticity. A chronic subdural hematoma was found on MRI, and initially it was suspected that the patient had an intracranial infection. However, close investigation ruled out the chronic subdural hematoma as the source of infection. The patient's fever continued in spite of administration of antibiotics and antimycotics. We suspected that the fever was drug-induced and discontinued the use of dantrolene. As a result, the patient's fever promptly went down. After discontinuation of dantrolene the patient experienced increased muscle tone, vomiting and sleep disturbances. Dantrolene was readministered with the consent of the patient's family, but the fever returned. When dantrolene was once again discontinued, the fever immediately went down. We concluded that the fever of the patient was induced by dantrolene.View full abstractDownload PDF (2323K) -
Rika Hashi, Akihiro Nakamura, Tateo Sugimoto, Kazunari Kaneko2007 Volume 39 Issue 6 Pages 445-449
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSWe report the clinical course and results of electroencephalographic (EEG) examinations in 2 sisters with infantile dentatorubral pallidoluysian atrophy (DRPLA).
Typical development was seen until the age of 6 months. From that age, however, development was delayed. The elder sister experienced astatic seizure at the age of 3 years. She began to deteriorate and had difficulty in controlling her body movement at the age of 3 years and 7 months.
Magnetic resonance imaging revealed marked cerebellar atrophy and genetic analysis of the DRPLA gene led to a diagnosis of DRPLA. Repeat size of the CAG base sequence was 86/19. Neurological deterioration was rapid and controlling convulsions using antiepileptic drugs was difficult. EEG was characterized by high-voltage slow waves and poor development of basic wave through the follow-up period.
In contrast, the younger sister showed only mild developmental delay, and could stand independently at the 2 years and 9 months. Repeat size of the CAG base sequence was 79/11. Myoclonic seizures developed at 4 years and 7 months, but have been well controlled using sodium valproate. EEG showed diffuse 3-4 Hz spike-and-wave complexes that were rather different from the findings in her elder sister.
In conclusion, these case reports of sisters with DRPLA showing different clinical courses and EEG findings suggested that EEG may be useful to clarify the clinical prognosis of infantile-onset DRPLA.View full abstractDownload PDF (824K) -
Hiroto Akaike, Maki Osawa, Kenji Sugai, Eiji Nakagawa, Hirofumi Komaki ...2007 Volume 39 Issue 6 Pages 451-455
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSWe describe a patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS). This patient showed central hypotonia, mental retardation, disappearance of language, multiple facial anomalies, and intractable epilepsy. Overnight EEG showed CSWS (spike & wave index=99.2%) at seven years of age. Chromosomal analysis using G-banding revealed a deletion at the end of chromosome 22, indicative of 22q13 syndrome.
In addition, subsequent magnetic resonance imaging (MRI) demonstrated cerebral infarction in the left posterior temporal area, which was probably caused by recurrent status epilepticus. Unlike previous case reports, a striking feature in this patient was the development of motor deterioration after 15 years of age. The severe EEG abnormalities and frequent status epilepticus might induce this deterioration and brain infarction.View full abstractDownload PDF (1653K) -
[in Japanese], [in Japanese], [in Japanese], [in Japanese], [in Japane ...2007 Volume 39 Issue 6 Pages 456-458
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESS -
[in Japanese], [in Japanese], [in Japanese], [in Japanese], [in Japane ...2007 Volume 39 Issue 6 Pages 458-459
Published: November 01, 2007
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESS
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