Publications (16)35.58 Total impact
-
Article: Liver transplantation in a case of hypoproteinemia and coagulopathy
[show abstract] [hide abstract]
ABSTRACT: A female infant with hypoproteinemia and coagulopathy associated with hypertyrosinemia was successfully treated with living-related liver transplantation (LRLT). On the 12th day of life plasma amino acid analysis revealed a marked elevation of tyrosine, so the patient was fed on a low-tyrosine and low-phenylalanine diet. However, hepatosplenomegaly. hypotonia, alopecia, eczema and psychomotor delay did not improve and recurrent episodes of disseminated intravascular coagulation (DIC) caused her condition to deteriorate. Liver biopsy on the 230th day revealed marked fatty change accompanied by mild to moderate cholestasis. Therefore. LRLT from her father was performed on the 286th day resulting in improvement of all the aforementioned signs and symptoms. Despite a thorough examination, no diagnosis of a known disorder could be established. However, her elder brother had also been born with severe hypoproteinemia and coagulopathy, and died of DIC on the second day of life. Thus, the disorder is designated as a new entity, namely ‘congenital hypoproteinemia and coagulopathy associated with hypertyrosinemia’.Pediatrics International 10/2007; 40(1):96 - 98. · 0.63 Impact Factor -
Article: A neurosphere-derived factor, cystatin C, supports differentiation of ES cells into neural stem cells.
[show abstract] [hide abstract]
ABSTRACT: Although embryonic stem (ES) cells are capable of unlimited proliferation and pluripotent differentiation, effective preparation of neural stem cells from ES cells are not achieved. Here, we have directly generated under the coculture with dissociated primary neurosphere cells in serum-free medium and the same effect was observed when ES cells were cultured with conditioned medium of primary neurosphere culture (CMPNC). ES-neural stem cells (NSCs) could proliferate for more than seven times and differentiate into neurons, astrocytes, and oligodendrocytes in vitro and in vivo. The responsible molecule in CMPNC was confirmed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, which turned out to be cystatin C. Purified cystatin C in place of the CMPNC could generate ES-NSCs efficiently with self-renewal and multidifferentiation potentials. These results reveal the validity of cystatin C for generating NSCs from ES cells.Proceedings of the National Academy of Sciences 05/2006; 103(15):6019-24. · 9.68 Impact Factor -
Article: [Postoperative complete atrioventricular block induced by carbamazepine in a patient with congenital heart disease].
[show abstract] [hide abstract]
ABSTRACT: We report here a boy with epilepsy and congenital heart defect, complicated postoperatively by complete atrioventricular (A-V) block caused by an adverse effect of carbamazepine (CBZ). He had been taking CBZ for 7 years to treat complex partial seizures. He also had endocardial cushion defect and first-degree A-V block, and underwent cardiac surgery at the age of 17 years. The postoperative course was unremarkable except transient complete left bundle branch block occuring one day after the surgery. Oral CBZ (400 mg per day) was continued. Five days after the surgery, bradycardia (20 beats per minute) suddenly developed, and electrocardiography (ECG) showed complete A-V block. Pervenous pacing was begun, and the heart rate gradually recovered. CBZ was discontinued on the suspicion that it caused the arrhythmia, although its serum level was estimated to be within the therapeutic range (4 to 5 microg/ml). He underwent pervenous pacing for 12 days. He was discharged 27 days after the surgery, when ECG returned to first-degree A-V block. In this case, the cardiac conduction system was affected by an adverse effect of CBZ, in combination with the preoperative first-degree A-V block and the effects of cardiac surgery, resulting in complete A-V block. Although reports of similar cases are scarce, caution should be made in prescribing CBZ to patients who either have cardiac conduction abnormalities or undergo cardiac surgery.No to hattatsu. Brain and development 06/2005; 37(3):257-61. -
Article: Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy.
[show abstract] [hide abstract]
ABSTRACT: While there is an abundance of literature describing the association of chromosome aberrations with epilepsy, only a few refer to the detailed features of epilepsy. It is important to investigate the associations between specific chromosome abnormalities and features of epilepsy to identify genes involved in epilepsy and treat them more effectively. We investigated the correlation between specific chromosome aberrations and epilepsy by sending questionnaires to the members of Kyoto Multi-institutional Study Group of Pediatric Neurology. Seventy-six patients were collected from 10 institutions. Chromosome abnormalities included: Down syndrome (n = 19); Angelman syndrome (n = 8); Prader-Willi syndrome (n = 4); 4p- syndrome (n = 3); 1q- syndrome (n = 2); 5p- syndrome (n = 2); Miller-Dieker syndrome (n = 2); 18q- syndrome; (n = 2); Klinefelter syndrome; (n = 2); and 32 other individual chromosomal aberrations. Overall, the severity of mental retardation correlated with the severity of epilepsy. We could abstract characteristic features of epilepsy in some syndromes. In Angelman and Prader-Willi syndromes, febrile seizures occurred frequently, the onset of epilepsy was in early childhood and seizure phenotype was multiple. Paroxysmal discharge of the occipital region and diffuse high voltage slow wave on electroencephalography were characteristic in Angelman syndrome. In Down syndrome, West syndrome and focal epilepsy were common and the prognosis of epilepsy in West syndrome with Down syndrome was good. In 4p- syndrome, febrile seizures were often seen, and unilateral or generalized clonic or tonic-clonic status epilepticus were characteristic. For the other chromosomal aberrations investigated here, the patient numbers were too small to abstract common features of epilepsy.Brain and Development 04/2005; 27(2):127-34. · 2.12 Impact Factor -
Article: MR imaging with quantitative diffusion mapping of tacrolimus-induced neurotoxicity in organ transplant patients.
[show abstract] [hide abstract]
ABSTRACT: Our objective was to investigate brain MR imaging findings and the utility of diffusion-weighted (DW) imaging in organ transplant patients who developed neurologic symptoms during tacrolimus therapy. Brain MR studies, including DW imaging, were prospectively performed in 14 organ transplant patients receiving tacrolimus who developed neurologic complications. In each patient who had abnormalities on the initial MR study, a follow-up MR study was performed 1 month later. Apparent diffusion coefficient (ADC) values on the initial MR study were correlated with reversibility of the lesions. Of the 14 patients, 5 (35.7%) had white matter abnormalities, 1 (7.1%) had putaminal hemorrhage, and 8 (57.1%) had normal findings on initial MR images. Among the 5 patients with white matter abnormalities, 4 patients (80.0%) showed higher than normal ADC values on initial MR images, and all showed complete resolution on follow-up images. The remaining 1 patient (20.0%) showed lower than normal ADC value and showed incomplete resolution with cortical laminar necrosis. Diffusion-weighted imaging may be useful in predicting the outcomes of the lesions of tacrolimus-induced neurotoxicity.European Radiology 06/2003; 13(5):986-93. · 3.22 Impact Factor -
Article: Subclinical central pontine myelinolysis following liver transplantation.
[show abstract] [hide abstract]
ABSTRACT: Central pontine myelinolysis (CPM) is a demyelinating disorder of unknown origin that almost exclusively affects the central portion of the basis pontis, and is one of the fatal neurological complications after liver transplantation. We describe two children with CPM detected incidentally after liver transplantation. To our knowledge, this is the first report of CPM diagnosed antemortem in children who had undergone liver transplantation. In our patients, there were no clinical manifestations associated with CPM. We conclude that, including silent cases such as our patients, CPM may be more prevalent than previously appreciated following liver transplantation.Brain and Development 05/2002; 24(3):179-82. · 2.12 Impact Factor -
Article: Acute lethal encephalopathy in systemic juvenile rheumatoid arthritis.
[show abstract] [hide abstract]
ABSTRACT: Macrophage activation syndrome is the most common cause of death in children with systemic juvenile rheumatoid arthritis. We present a first patient with systemic juvenile rheumatoid arthritis in which acute necrotizing encephalopathy developed as a complication of macrophage activation syndrome but not of Reye's syndrome. The suspected mechanism of this lethal complication is discussed.Pediatric Neurology 05/2002; 26(4):315-7. · 1.52 Impact Factor -
Article: Non-progressive viral myelitis in X-linked agammaglobulinemia.
[show abstract] [hide abstract]
ABSTRACT: We report a 14-year-old boy with X-linked agammaglobulinemia (XLA) complicated by isolated non-progressive myelitis caused by Coxsackie virus B1. Despite the absence of immunoglobulin supplement and persistence of the virus for the initial 2 years, motor impairment did not show any progression for 3 years. This report shows that the prognosis of central nervous system infection in XLA is not determined by immunoglobulin levels alone, and that it is not always progressive or fatal. The balance between host immunity and the virulence of the causative virus may be involved in the prognosis of meningoencephalitis in XLA.Brain and Development 04/2002; 24(2):109-11. · 2.12 Impact Factor -
Article: Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood
[show abstract] [hide abstract]
ABSTRACT: Ehlers-Danlos syndrome type IV is of special interest to neurologists because of the risk of cerebrovascular complications. We describe a 5-year-old female with Ehlers-Danlos syndrome type IV, demonstrating multiple intracranial aneurysms and right middle cerebral artery stenosis. The diagnosis of Ehlers-Danlos syndrome type IV was confirmed by electron microscopic examination of a skin biopsy. To our knowledge, this is the youngest reported patient with intracranial aneurysms associated with the Ehlers-Danlos syndrome type IV. Ehlers-Danlos syndrome type IV should be considered in the differential diagnosis of cerebrovascular disorder and stroke in early childhood.Pediatric Neurology 11/2001; · 1.52 Impact Factor -
Article: Partial seizures in leukoencephalopathy with swelling and a discrepantly mild clinical course
[show abstract] [hide abstract]
ABSTRACT: We report a patient with ‘Leukoencephalopathy with swelling and a discrepantly mild clinical course’, an entity of leukoencephalopathy recently clarified. Our patient presented with complex partial seizures in addition to characteristic radiological findings and clinical course. A review of the literature revealed that this new neurodegenerative disease complicates epilepsy in more than half of the patients, and that partial components in the seizure symptomatology are not infrequent.Brain and Development 10/2000; 22(6):387-389. · 2.12 Impact Factor -
Article: Living-Related Liver Transplantation and Neurological Outcome in Children With Fulminant Hepatic Failure
[show abstract] [hide abstract]
ABSTRACT: Background. Fulminant hepatic failure (FHF) in children is associated with high mortality under medical management. Living-related liver transplantation(LRLT) is an accepted measure to treat the children with end-stage liver disease. Reversibility of hepatic encephalopathy is crucial for the quality of life among the survivors after transplantation. Methods. A retrospective review was made of the records of children undergoing LRLT at this hospital between May 1992 and November 1996. Results. Eleven children with FHF underwent emergency LRLT. The mean age was 5 years (range, 2 months to 15 years). The indication for transplantation was persistent or worsening hepatic encephalopathy and severe coagulopathy, despite repeated plasma exchanges or exchange transfusions. The cause of FHF was non-A, non-B hepatitis in seven children, hepatitis B in two children, herpes simplex virus hepatitis in one child, and fulminant Wilson's disease with intravascular hemolysis in one child. The grade of hepatic encephalopathy was II in four children, III in two, and IV in five. The actuarial survival rate was 73% after a mean follow-up of 28 months (range, 13-67 months). Short-term neurological morbidity was present in two children with grade IV encephalopathy who also showed brain edema on cranial computed tomography. Eight survivors exhibited no long-term neurological deficit; the mean intelligence or developmental quotient was 97 (range, 86-110) at the end of the follow-up period. Conclusions. LRLT is an effective option for the treatment of FHF in children. The long-term neurological status is satisfactory among survivors.Transplantation 03/1998; 65(5):686-692. · 4.00 Impact Factor -
Article: Congenital bilateral perisylvian syndrome: First report in a Japanese patient
[show abstract] [hide abstract]
ABSTRACT: A Japanese boy with congenital bilateral perisylvian syndrome is described. He had oropharyngoglossal dysfunction and severe dysarthria. Magnetic resonance imaging of the brain, disclosed bilateral perisylvian malformations suggesting polymicrogyria. The patient also showed mental retardation, epilepsy, and poor motor skills.Journal of Human Genetics 01/1996; 41(1):189-192. · 2.57 Impact Factor -
Article: Carbamazepine Therapy and LongTerm Prognosis in Epilepsy of Childhood
[show abstract] [hide abstract]
ABSTRACT: Sixty-seven of 90 patients (74% who had been treated with carbamazepine (CBZ) alone were seizure-free for > 3 years. The EEG of the patients given CBZ monotherapy was more often normal in those without neurologic abnormalities other than mental retardation or a genetic predisposition. The prognosis of patients with partial seizures secondarily generalized was poorer than that of the other patients. Patients without mental retardation more often had monotherapy CBZ. The lowest blood level of CBZ for maintenance was considered to be 4 μg/ml, although the therapeutic blood level was between 6 and 12 μ.g/ml. Most of the side effects were mild.RÉSUMÉ67 patients parmi 90 enfants (soit 74%) qui avaient été traités par carbamazépine (CBZ) en monothérapie n'ont plus présenté de crises pendant au moins 3 ans. L'EEG de patients traités par CBZ en monothérapie était souvent normal chez ceux qui ne présentaient pas d'anomalies neurologiques en dehors d'un retard mental ou d'une predisposition genetique. Le pronostic était plus mauvais chez les patients présentant des crises partielles secondairement généralisées que chez les autres. Les patients sans retard mental avaient plus souvent que les autres une monotherapie par CBZ. Le seuil inferieur efficace du taux sanguin de CBZ a été estiméà 4 mg/1, bien que le taux thérapeutique se soit situé entre 6 et 12 mg/1. La plupart des effets secondares ont été peu importants.RESUMENSesenta y siété de 90 pacientes (74%) que habian sido tratados con carbamazepina (CBZ) como medicación única, permanecieron libres de ataques durante más de 3 años. El EEG de los pacientes que recibfan monoterapia con CBZ fue mis frecuent-emente normal que el de los enfermos sin anomalfas neurológicas, aparte de retraso mental o predisposición genética. El pronóstico de los pacientes con ataques parciales con generalización secundaria fue peor que en otros pacientes. Los enfermos sin retraso mental recibieron monoterapia con CBZ más frecuente-mente. Se consideró que los niveles en sangre de CBZ más bajos de mantenimiento fueron de 4 μg/ml a pesar de que el nivel terapéutico se consideraba entre 6 y 12 μ.g/ml. Los síntomas colaterales fueron, en su mayor parte, de poca importancia.Epilepsia 01/1989; 30(1):57 - 61. · 3.96 Impact Factor -
Article: γ-aminobutyric acid, benzodiazepine binding sites and γ-aminobutyric acid concentrations in epileptic El mouse brain
[show abstract] [hide abstract]
ABSTRACT: All El mice provoked by postural stimulation since the age of 4 weeks had convulsions between 22 and 24 weeks of age, the refractory period ranging from 20 to 30 min. As compared to ddY mice, the maximal number of high-affinity [3H]muscimol binding sites was larger and the affinity was lower in the brains of the El mice, which had or had not experienced repeated seizures caused by postural stimuli. The basal and γ-aminobutyric acid (GABA)-stimulated [3H]flunitrazepam binding sites, and GABA concentration in the brains of the El mice did not differ from those of the ddY mice. In El mice following provoked convulsions, there were no temporary changes in [3H]muscimol binding, or [3H]flunitrazepam binding with or without exogenous GABA stimulation. The GABA concentration in the brains of the El mice increased immediately after seizures, and returned to the control values within 60 min.European Journal of Pharmacology. -
Article: 123I-IMP SPECT findings in mitochondrial encephalomyopathies
[show abstract] [hide abstract]
ABSTRACT: We performed N-isopropyl-[123I] p-iodoamphetamine (IMP) single photon emission computed tomography (SPECT) in three patients with Leigh syndrome, two patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), and two siblings with progressive external ophthalmoplegia (PEO). The SPECT images were compared with the findings on magnetic resonance imaging (MRI) and computed tomography (CT). All Leigh syndrome patients showed low accumulation areas (LAA) bilaterally in the frontal lobes and the basal ganglia. The frontal lobe LAA was seen even in an area without abnormalities on CT/MRI. Each MELAS patient showed a focal LAA. SPECT could also detect an old stroke-like lesion that was no longer shown by CT/MRI. However, SPECT did not show LAA in the basal ganglia, which showed calcification on CT or abnormal signal intensity on MRI. MRI in the 2 PEO patients showed lesions bilaterally in the basal ganglia in one, and in the internal capsules in the other. SPECT showed LAA not only in corresponding areas, but also in the occipital lobes, where no lesions were revealed by MRI. Thus,123I-IMP SPECT was more sensitive than CT/MRI for detecting stroke-like lesions in MELAS patients, although it did not detect small lesions in the basal ganglia. LAA in the frontal lobes and occipital lobes may be SPECT findings characteristic of Leigh syndrome and PEO, respectively.Brain and Development. -
Article: Cerebellum and brain stem atrophy in a child with Huntington's chorea
[show abstract] [hide abstract]
ABSTRACT: An 11-yr-old girl with Huntington's chorea since the age of 4 had mental deterioration, chorea, rigidity, generalized convulsions and cerebellar ataxia. Computerized tomography (CT) showed atrophy of the cerebellum and brain stem in addition to atrophy of the caudate nucleus and cerebral cortex.Computerized Radiology
Top co-authors
Top Journals
Institutions
-
1989–2007
-
Kyoto University
- Department of Pediatrics
Kyoto, Kyoto-fu, Japan
-
