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Volume 35, Issue 5
Displaying 1-15 of 15 articles from this issue
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[in Japanese]2003 Volume 35 Issue 5 Pages 372
Published: September 01, 2003
Released on J-STAGE: December 15, 2011
JOURNAL FREE ACCESSDownload PDF (248K) -
Kyoko Tanaka, Toshihiro Horiguchi, Masumi Inagaki, Makiko Kaga2003 Volume 35 Issue 5 Pages 373-379
Published: September 01, 2003
Released on J-STAGE: December 15, 2011
JOURNAL FREE ACCESSWe retrospectively investigated medical records of 196 patients suspected of having mental retardation at their initial visits. The objective of the study was to clarify the current choice of medical examinations and to assess their usefulness. Frequently selected examinations included (1) neuroimaging, neurophysiology and other central nervous system examinations, (2) psychological examinations and (3) blood tests. The former two demonstrated abnormal results very frequently. Genetic examinations rarely showed abnormal results. On the contrary, chromosomal analysis was often useful for diagnosing diseases that are difficult to be made only by clinical symptoms. Physicians should provide patients and their families with information about medical examinations currently available and useful.View full abstractDownload PDF (1222K) -
Naoki Kozuka, Nobutada Tachi, Kazuhiro Ohya, Eiji Uchida, Shin Kikuchi ...2003 Volume 35 Issue 5 Pages 380-387
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSMyotonic dystrophy (MyD) is a hereditary neuromuscular disorder of an autosomal dominant trait. MyD is caused by an expansion of unstable CTG trinucleotide repeat in the 3' untranslated region of mRNA coding myotonin protein kinase (MT-PK). We analyzed CTG repeat expansion in 10 patients with congenital MyD and their relatives using the non-radioactive PCR Southern method. The region containing the CTG repeat was amplified by PCR using specific primers. The PCR products were electrophoresed on a 1% agarose gel and transferred to a nylon membrane. The CTG repeat expansion was shown using a fluorescein-labelled (CTG) 10 probe. To estimate the number of CTG repeats, we compared the smears obtained on Southern blotting with a picture of PCR products and a DNA size marker (100 bp). We compared our results of radioactive Southern blotting for genomic DNA digested by Eco RI or Bgl I and for PCR products. In congenital MyD patients, heterogeneous smears (3.89-10.22kb: about 1252-3362 CTG repeat) were observed, whereas in the adult type MyD had heterogeneous smears (0.92-1.82kb: about 262-562 CTG repeat). In asymptomatic MyD patients, there were heterogeneous smears (0.35-1.16kb: about 72-342 CTG repeat). These results demonstrated anticipation. We conclude that the non-radioactive PCR Southern method is useful and convenient for the DNA diagnosis of MyD.View full abstractDownload PDF (5134K) -
Kuriko Shimono, Katsumi Imai, Shuichi Shimakawa, Hiroshi Tamai, Atsush ...2003 Volume 35 Issue 5 Pages 388-393
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSWe investigated the clinical characteristics of 54 patients with childhood onset occipital lobe epilepsy (OLE). There were 25 patients of symptomatic OLE (cortical dysplasia, post encephalitis or encephalopathy, brain tumor and so on), and 29 cases of cryptogenic OLE.
Eighteen patients had positive visual symptoms such as flash light, bright spots and sparks of light, 23 patients had negative ones such as scotoma, hemianopia and amaurosis and 10 patients had other complicated visual symptoms such as change of the shape or colors. Young children complained of simple visual phenomena. The youngest patient who could explain visual symptom was 3 years old. All 3 patients with visual field defects had cortical dysplasia in occipital lobe. Ictal SPECT study showed wide hyperperfusion areas in the temporo-parieto-occipital lobe in most of patients with abnormal MRI findings. CBZ and VPA were prescribed in most cases, and were effective in 65% and 60% of the patients, respectively. Seizure prognosis was relatively good. Seizures disappeared in 56% of the patients with symptomatic OLE and 79% of those with cryptogenic OLE.View full abstractDownload PDF (1895K) -
Psychological Estimation Using State-Trait Anxiety Inventory and Therapy by Serotonin Reuptake InhibitorsRyoichi Sakuta, Mami Tazoe, Naoko Narita, Nobuyuki Murakami, Toshiro N ...2003 Volume 35 Issue 5 Pages 394-400
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSUsing State-Trait Anxiety Inventory (STAI) we examined 13 junior high school students with school refusal and indefinite complaints. Significant increase of the anxiety levels was higher in these children than in the control group. Serotonin reuptake inhibitors (SSRIs) were administered to 19 elementary and junior high school students with school refusal and indefinite complaints. The indefinite symptoms improved markedly in 2 children, moderately in 11, and mildly in 6. We conclude that high anxiety may cause indefinite symptoms in children with school refusal and that the treatment of indefinite symptoms with SSRI is an effective supportive therapy.View full abstractDownload PDF (1367K) -
Koki Nikaido, Hiroshi Nihira, Shuji Wakai, Osamu Honmo, Akihiro Tsuzuk ...2003 Volume 35 Issue 5 Pages 401-405
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSA 4-year-old girl had repetitive attacks of chest pain, palpitation and loss of consciousness, which lasted for a few minutes and occurred several times a day. Interictal and ictal EEGs revealed that these episodes were complex partial seizures with autonomic symptoms originating from the right antero-temporal area. Brain MRI depicted a tumor in the right temporal lobe, the suspected etiology of the seizures. The tumor and its surrounding area were carefully resected using electrocorticogram. Pathologically, the tumor was diagnosed as an oligodendroglioma. MR spectrometry demonstrated a definite reduction of NAA/creatine ratio in the tumor. It is reported that a probability of developing seizures in cases of oligodendroglioma is about 80-90%. The occurrence rate of seizures in oligodendroglioma is much higher than that in other brain tumors. The cause of the epileptogenesis in oligodendroglioma might be due to the pathological tissue of satellitosis and secondary degeneration of neurons.View full abstractDownload PDF (3827K) -
Toshiyuki Iwasaki, Hisao Miura, Wataru Sunaoshi, Nozomi Hosoda, Kenji ...2003 Volume 35 Issue 5 Pages 406-410
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSA 13-year-old boy patient had severe mental retardation and spastic quadriplegia due to fetal distress and hypoxic-ischemic brain damage in the perinatal period. He suffered from West syndrome at the age of 7 months, and subsequently was diagnosed as having symptomatic localization-related epilepsy. His intractable epileptic seizures were not controlled by combination of various antiepileptic drugs. After prescribing nitrazepam and zonisamide for more than 1 year, we added clobazam (CLB), which has been marketed in Japan since 2000, to this combination therapy. After the introduction of CLB, tonic seizures disappeared. However, gelastic seizures laughing with a stiff face and a wry mouth appeared frequently before falling asleep, and sleep disturbance worsened subsequently. It has not been reported previously that gelastic seizures are a side effect of CLB, although irritability and sleep disturbance have been described.View full abstractDownload PDF (3681K) -
Chie Endo, Susumu Miyake2003 Volume 35 Issue 5 Pages 411-416
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSWe report a 3-year-old girl with idiopathic hypereosinophilic syndrome. She was admitted to our hospital because of fever, cough, significant eosinophilia (16, 500/μl) and an elevated serum IgE level (114, 685u/ml). After wheezes continued for severel days, paraplegia, dysuria and dyschezia developed. CSF, chest roentgenogram and spinal MRI were normal, as well as motor and sensory conduction velocities of the median and tibial nerves. Flaum's hematologic score was 4. Treatment with prednisolone resulted in remission of neurological symptoms and a rapidly normalization of the eosinophil count. During the following months, eosinophilia reappeared with tapering the medication, but there was no recurrence of neurological signs. Glucocorticoid therapy was discontinued after 21 months.View full abstractDownload PDF (4628K) -
Kyoko Maruta2003 Volume 35 Issue 5 Pages 417-421
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSA 19-year-old man with Lesch-Nyhan syndrome (LNS), had dyspnea and an inspiratory wheeze, and underwent assisted mechanical ventilation and tracheostomy. Bronchoscopy revealed tracheomalacia of the crescent moon type. He lost his weight, and his general condition gradually worsened. Four months post-tracheostomy, he died of massive hemoptysis from a tracheobrachiocephalic artery fistula.
Many patients with LNS have renal failure and pneumonitis, whereas occasional cases are complicated by convulsions, recurrent coma, abnormalities of respiration, and sudden death. The etiology of sudden death is not clear. Although tracheomalacia, to our knowledge, has not been described in the literature, it may be a clinical feature of LNS associated with abnormal respiration and sudden death.
Tracheobrachiocephalic artery fistula is common in patients with neuromuscular disorders and a chronic tracheostomy tube. Caution is required in LNS patients with opisthotonic extensor spasms of the neck and trunk, chronic bronchitis, and malnutrition.View full abstractDownload PDF (3506K) -
Kyoko Maruta2003 Volume 35 Issue 5 Pages 422-425
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSA severely retarded 30-year-old woman developed acute lithium intoxication. Since the age of 22, she had been treated with neuroleptics for her aggressive behavior. At 30 years of age, lithium carbonate was added to arrest selfinjurious behavior, at an initial dosage of 300 mg/day and a maintenance dosage of 900 mg/day. She subsequently developed anorexia and weight loss, and was admitted to our hospital. After 7 months of lithium therapy, she suddenly had a high fever (38.3°C), diabetes inspidus, severe hypernatremia, and became akinetic and mute. Under the suspicion of lithium intoxication, all medication was discontinued, and mannitol to increase renal lithium clearance. She was given gradually improved over a month, but remained hypothyroid.
This case shows the importance of interaction of lithium carbonate and other drugs which may cause lithium intoxication. In patients with severe intellectual disabilities who are unable to complain their symptoms, lithium therapy requires particularly close attention to signs of early toxicity.View full abstractDownload PDF (639K) -
[in Japanese], [in Japanese], [in Japanese]2003 Volume 35 Issue 5 Pages 426-428
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESS -
[in Japanese], [in Japanese]2003 Volume 35 Issue 5 Pages 429-431
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESS -
[in Japanese], [in Japanese], [in Japanese]2003 Volume 35 Issue 5 Pages 431-433
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESS -
[in Japanese]2003 Volume 35 Issue 5 Pages 436
Published: September 01, 2003
Released on J-STAGE: December 12, 2011
JOURNAL FREE ACCESSDownload PDF (189K) -
[in Japanese]2003 Volume 35 Issue 5 Pages 442-447
Published: September 01, 2003
Released on J-STAGE: December 15, 2011
JOURNAL FREE ACCESSDownload PDF (1205K)
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