Publications by authors named "Toshinori Minato"

7 Publications

  • Page 1 of 1

CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report.

Brain Dev 2018 Feb 18;40(2):130-133. Epub 2017 Sep 18.

Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.

We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory myoclonic/tonic seizures since birth. Electroencephalography revealed multifocal spikes, and rhythmic activities that occurred simultaneous with aggravation of myoclonus accompanied by tonic upper limb elevation. Brain magnetic resonance imaging revealed progressive cerebral atrophy with periventricular signal change and thin corpus callosum at one year of age. A de novo heterozygous missense mutation in the CACNA1A gene was confirmed. This patient was the most severe phenotype of CACNA1A-related early-onset encephalopathy among previous reports.
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http://dx.doi.org/10.1016/j.braindev.2017.08.006DOI Listing
February 2018

Follow-up of pediatric patients treated by IVIG for Langerhans cell histiocytosis (LCH)-related neurodegenerative CNS disease.

Int J Hematol 2015 Feb 10;101(2):191-7. Epub 2014 Dec 10.

Department of Laboratory Medicine, Uji-Tokushukai Medical Center, Uji, Kyoto,

The follow-up of eight Japanese children with Langerhans cell histiocytosis (LCH)-related neurodegenerative central nervous system (ND-CNS) disease who were treated with intravenous immunoglobulin (IVIG) for >3 years is described. The patients developed ND-CNS disease at a median age of 5.2 (range 3.5-10.0) years and received IVIG treatment for a median duration of 6.5 + (range 3.7 to 10+) years. After a median follow-up period of 11.6 + (8.3+ to 13.9+) years after ND-CNS disease diagnosis, the median Expanded Disability Status Scale (EDSS) score of the eight patients was 4.0 (range 2.0-9.5). At the last follow-up as of March 2014, three patients have low EDSS scores (<3.0) and can walk without any assistance. Another three patients have EDSS scores of 3.5-4.5 and can walk by themselves, albeit occasionally with supports. However, the remaining two patients are wheelchair bound or bed ridden. The school performance of seven of the eight patients was below average. IVIG appeared to be most beneficial when it was administered soon after ND-CNS disease diagnosis when the EDSS scores were low (1.0-2.5). The patients who began receiving IVIG when their high EDSS scores were higher (4.5-7.0) appeared to obtain less benefit. To prevent progression of ND-CNS disease in patients with LCH, it is recommended to introduce IVIG early and to continue this therapy for >3 years.
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http://dx.doi.org/10.1007/s12185-014-1717-5DOI Listing
February 2015

Neurodegenerative central nervous system disease as late sequelae of Langerhans cell histiocytosis. Report from the Japan LCH Study Group.

Haematologica 2008 Apr 20;93(4):615-8. Epub 2008 Feb 20.

Division of Pediatrics, Takasago-seibu Hospital, 1-10-41 Nakasuji, Takasago, Hyogo Prefecture, Japan 676-0812.

Clinical features, brain magnetic resonance imaging findings and EDSS scores of 11 patients with neurodegenerative central nervous system Langerhans cell histiocytosis were analyzed in Japan. All patients initially had multi-system-type Langerhans cell histiocytosis; 8 at 1-2 years of age and 3 at a later age. Neurodegenerative central nervous system Langerhans cell histiocytosis disease developed after a median time interval of 3.9 years from initial diagnosis. With a median follow-up of 4.5 years, 6 patients showed progression of disease with an EDSS score >3. This study demonstrates the importance of early detection of neurodegenerative central nervous system Langerhans cell histiocytosis by brain magnetic resonance imaging, particularly in the follow-up of patients who developed multi-system-type Langerhans cell histiocytosis in early infancy.
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http://dx.doi.org/10.3324/haematol.11827DOI Listing
April 2008

Treatment of neurodegenerative CNS disease in Langerhans cell histiocytosis with a combination of intravenous immunoglobulin and chemotherapy.

Pediatr Blood Cancer 2008 Feb;50(2):308-11

Division of Pediatrics, Takasago-seibu Hospital, Takasago, Japan.

Background: In rare cases, patients with Langerhans cell histiocytosis (LCH) develop neurodegenerative CNS disease (ND-CNS-LCH). Management of ND-CNS-LCH has not been established.

Methods: We treated five pediatric patients with a combination of intravenous immunoglobulin (IVIG) and chemotherapy (steroid +/- vinblastine +/- 6-mercaptopurine +/- methotrexate). Prior to the therapy, three of the five patients had cerebellar ataxia while the remaining two had abnormal MRI findings without apparent neurological deficits. IVIG was given monthly or twice monthly at the dosage of 250-400 mg/kg/dose.

Results: The four patients administered more than 23 doses of IVIG and chemotherapy remained in a stable condition and did not show significant progression signs in neurological deficits or brain MRI findings during the 30-month follow-up period (median; range: 19+ to 38+) following the initiation of therapy for ND-CNS-LCH.

Conclusion: The IVIG-containing treatment may be promising for ND-CNS-LCH; however, its effectiveness remains to be further tested in more patients as well as in a randomized trial.
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http://dx.doi.org/10.1002/pbc.21259DOI Listing
February 2008

A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins.

J Neurol 2007 May 6;254(5):624-30. Epub 2007 Apr 6.

Dept. of Public Health, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.

Although most patients with spinal muscular atrophy (SMA) are homozygous for deletion of the SMN1 gene, some patients bear one SMN1 copy with a subtle mutation. Detection of such an intragenic mutation may be helpful not only in confirming diagnosis but also in elucidating functional domains of the SMN protein. In this study, we identified a novel mutation in SMN1 of two Japanese patients with type I SMA. DHPLC and sequencing analysis revealed that they harbored a point mutation in SMN1 exon 3, 275G > C, leading to tryptophan-to-serine substitution at amino acid 92 (W92S) at the Nterminal of SMN Tudor domain. In-vitro protein binding assays showed that the mutation severely reduced interaction of the domain with SmB protein and fibrillarin, suggesting that it impairs the critical function of SMN. In conclusion, we reported here that a novel mutation, W92S, in the Tudor domain affects the interaction of SMN with the target proteins.
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http://dx.doi.org/10.1007/s00415-006-0410-xDOI Listing
May 2007

Cerebellar ataxia in pediatric patients with Langerhans cell histiocytosis.

J Pediatr Hematol Oncol 2004 Nov;26(11):735-9

Division of Pediatrics, Kyoto City Hospital and Kyoto City Institute of Health and Environmental Sciences, Kyoto, Japan.

The pathogenetic mechanisms of the central nervous system (CNS) problems associated with Langerhans cell histiocytosis (LCH) are not well established. Effective treatment strategies for these CNS complications are not yet available, while diabetes insipidus, also associated with LCH, can be managed effectively. Three Japanese boys with LCH who developed cerebellar ataxia were evaluated. Similar pediatric cases from the literature are also discussed. All three patients initially developed multifocal LCH lesions during early childhood (age <3 years) that responded well to chemotherapy; however, two of the three patients later developed diabetes insipidus. Ataxia, associated with mild developmental delay, was noted in the patients between the ages of 4 to 8 years. Analysis of these three cases, along with previously reported cases, indicates that the median age of onset of LCH was 2.5 (range 0.1-6.5) years and the median age of onset of cerebellar lesions/ataxia was 7 (range 3.5-16.5) years. Although the incidence of cerebellar LCH involvement is low, delayed onset of CNS disease must be monitored during follow-up care of pediatric LCH patients. Brain magnetic resonance imaging is strongly recommended for early detection of cerebellar lesions, but it remains to be determined whether there are any therapeutic measures to prevent exacerbation of CNS disease.
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http://dx.doi.org/10.1097/00043426-200411000-00009DOI Listing
November 2004

Kimura's disease with unusual eosinophilic epithelioid granulomatous reaction: a finding possibly related to eosinophil apoptosis.

Hum Pathol 2002 May;33(5):561-4

Department of Clinical Pathology, Toyooka Hospital, Toyooka City, Hyogo, Japan.

We report and discuss a case of Kimura's disease with an unusual eosinophilic epithelioid granulomatous reaction. A 3-year-old Japanese boy with eosinophilia and a high concentration of IgE developed lymphadenopathy and multiple cervical masses. A lymph node biopsy demonstrated the infiltration of eosinophils in the stroma, which is consistent with the findings of Kimura's disease. Interestingly, a number of apoptotic eosinophils was detected in the infiltrating eosinophils. Multiple epithelioid granulomas with central eosinophilic abscesses and necrosis were also observed. Macrophages and giant cells had phagocytosed the apoptotic eosinophils at the edge of the granulomas. In situ terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end-labeling (TUNEL) assay showed that the TUNEL-positive eosinophils were both in the macrophages and in the central eosinophilic abscesses of the granulomas. These findings suggest that the eosinophils had undergone an accelerated apoptosis in this case of Kimura's disease, and that the epithelioid granulomas were produced by phagocytosis of the apoptotic eosinophils by macrophages.
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http://dx.doi.org/10.1053/hupa.2002.124037DOI Listing
May 2002
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