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ABSTRACT: Introduction We report the case of a patient who developed symptoms of acute cerebellar ataxia (ACA) after administration of the human papilloma virus (HPV)-16/18 vaccine.Patient and Method This patient developed symptoms of ACA, including nausea, vertigo, severe limb and truncal ataxia, and bilateral spontaneous continuous horizontal nystagmus with irregular rhythm, 12 days after administration of the HPV-16/18 AS04-adjuvanted cervical cancer vaccine. After this, the patient received methylprednisolone pulse and intravenous immunoglobulin (IVIG) therapies as well as immunoadsorption plasmapheresis. Results Severe ACA symptoms did not improve after methylprednisolone pulse and IVIG therapies, but the patient recovered completely after immunoadsorption plasmapheresis. Conclusion This temporal association strongly suggests that ACA was induced by the vaccination.
Neuropediatrics 02/2013; · 0.94 Impact Factor
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Shino Shimada,
Nobuhiko Okamoto,
Masahiro Ito,
Yasuhiro Arai,
Ken Momosaki,
Masami Togawa, Yoshihiro Maegaki,
Midori Sugawara,
Keiko Shimojima,
Makiko Osawa,
Toshiyuki Yamamoto
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ABSTRACT: BACKGROUND: Duplications involving the methyl-CpG-binding protein 2 gene (MECP2) locus at Xq28 have been frequently identified in male patients who exhibit a phenotype unique from that of Rett syndrome, which is mainly characterized by severe mental retardation, recurrent infections, and epilepsy. This combination of features is recognized as MECP2 duplication syndrome. METHODS: Genomic copy number was investigated for patients with unexplained mental retardation, and phenotypic features of the patients having interstitial duplications including MECP2 were analyzed. RESULTS: Three male and one female patients with MECP2 duplication were identified. The phenotypic features of all the four patients were compatible with MECP2 duplication syndrome. The X-chromosome inactivation (XCI) pattern was analyzed in the female patient, identifying a skewed XCI that activated the X-chromosome containing the MECP2 duplication. Her mother possessed the same MECP2 duplication and a random XCI pattern but exhibited no phenotypic features, indicating a nonsymptomatic carrier. The brain magnetic resonance imaging revealed periventricular cystic lesions in all four patients, including the female patient. CONCLUSION: This study suggested clinical implications of the MECP2 duplication syndrome not only in the male but also in female patients with unexplained mental retardation.
Brain & development 08/2012; · 1.74 Impact Factor
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ABSTRACT: Objective: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme, acid alpha-glucosidase (GAA). To the best of our knowledge, no studies have reported the results of systematic and sequential CT analyses before and during ERT. In this study we have treated three patients with late onset Pompe disease by ERT, and investigated the efficacy of treatment by computed tomography number. Methods: We measured the serial changes in the computed tomography (CT) number of multiple organs in three patients with late onset of Pompe disease during 24months of enzyme replacement therapy (ERT). Results: Before treatment, the liver and muscle CT numbers were higher in these patients than in the controls. The liver CT number decreased after performing ERT. Furthermore, the urinary glucose tetrasaccharide levels, a biomarker of glycogen accumulation, were elevated before ERT and reduced thereafter. Conclusions: The findings in these cases suggest that the elevation of the liver CT number represents glycogen accumulation in the liver and that the analysis of the liver CT number is therefore a useful tool for assessing the efficacy of ERT.
Brain & development 04/2012; 34(10):834-9. · 1.74 Impact Factor
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Yoshihiro Maegaki
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ABSTRACT: Hemorrhagic shock and encephalopathy syndrome (HSES) is characterized by abrupt onset of hyperpyrexia, encephalopathy(seizure and coma), shock, diarrhea, disseminated intravascular coagulation, and renal and hepatic failure. HSES occurs in infants and prognosis is quite poor; early death in 35-82%, severe neurological squeal in 20-30%, and normal in only 10-20%. The underlying pathogenesis is still unknown. Although previous reports revealed that lowered plasma alpha1-antitrypsin level or elevated cytokine levels including IL-6 and TNF-alpha, the results are controversial.
Nippon rinsho. Japanese journal of clinical medicine 03/2011; 69(3):460-4.
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ABSTRACT: Array-based comparative genomic hybridization identified a 2.3-Mb microdeletion of 17p13.2p13.1 in a boy presenting with moderate mental retardation, intractable epilepsy and dysmorphic features. This deletion region was overlapped with the previously proposed shortest region overlapped for microdeletion of 17p13.1 in patients with mental retardation, microcephaly, microretrognathia and abnormal magnetic resonance imaging (MRI) findings of cerebral white matter, in which at least 17 known genes are included. Among them, DLG4/PSD95, GPS2, GABARAP and KCTD11 have a function in neuronal development. Because of the functional importance, we paid attention to DLG4/PSD95 and GABARAP, and analyzed zebrafish in which the zebrafish homolog of human DLG4/PSD95 and GABARAP was knocked down and found that gabarap knockdown resulted in small head and hypoplastic mandible. This finding would be similar to the common findings of the patients with 17p13.1 deletions. Although there were no pathogenic mutations in DLG4/PSD95 or GABARAP in a cohort study with 142 patients with idiopathic developmental delay with/without epilepsy, further studies would be required for genes included in this region.
Journal of Human Genetics 03/2010; 55(3):155-62. · 2.57 Impact Factor
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ABSTRACT: We describe the early manifestation and sequential assessment of the central and peripheral nervous system in a Japanese girl with merosin-deficient congenital muscular dystrophy. She showed severe hypotonia (''floppy infant") and suffered mild respiratory failure postnatally. Serum creatine kinase was elevated to 11,487 IU/L. The muscle biopsy showed dystrophic changes with negative expression of merosin (laminin α2), thereby confirming merosin-deficient congenital muscular dystrophy. Her motor milestones were severely delayed, but she could sit without support at the age of 3 years. After 3 years, her motor ability deteriorated and by the age of 5 years, she could not sit and control her neck. Magnetic resonance imaging (MRI) at 2 months of age revealed patterns that were appropriate for her age. At 1 year of age, the T2 weighted images showed diffuse high signal intensities throughout the centrum semiovale, and periventricular and subcortical white matter of the frontal and occipital lobes, while the U fibers, the corpus callosum and the internal capsule were spared. At the age of 7 years, these white matter abnormalities decreased. MR spectroscopy (MRS) revealed normal values of N-acetylaspartate (NAA)/creatine (Cr) and choline (Cho)/Cr metabolite ratios as well as slightly increased myoinositol (mI)/Cr metabolite ratios. Neurophysiological motor nerve conduction velocity (MCV) and compound muscle action potential (CMAP) of the median nerve were in the normal range at the age of 2 months. After the child reached 1 year of age, the MCV and CMAP lagged behind those of healthy controlled children. The sensory nerve conduction velocity of the median nerve demonstrated a mild delay at the age of 15 months. It improved to normal range at the age of 6 years but decreased at 7 years of age. These sequential findings suggest not only that muscular degeneration and dysmyelination had occurred but also that various other factors, including demyelination and the vasogenic system, may influence the pathology of MDC1A.
Brain & development 03/2010; 33(2):140-4. · 1.74 Impact Factor
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ABSTRACT: To report on long-term clinical course in patients with symptomatic occipital lobe epilepsy secondary to neonatal hypoglycemia.
Six patients with neonatal hypoglycemia and symptomatic occipital lobe epilepsy were studied in our hospital through reviewing their medical records retrospectively.
The median onset age of epilepsy was 2 years 8 months and median follow-up period was 12 years and 4 months. Initial seizure types were generalized convulsions in 4 patients, hemiconvulsion in 1, and infantile spasms in 1. Ictal manifestations of main seizures were identical to occipital lobe seizures, such as eye deviation, eye blinking, ictal vomiting, and visual hallucination. Seizure frequency was maximum during infancy and early childhood and decreased thereafter with no seizure in 2 patients, a few seizures a year in 3, and once a month in 1. All patients had status epilepticus in the early course of epilepsy. EEGs showed parieto-occipital spikes in all patients. MRI revealed cortical atrophy and T2 prolongation parieto-occipitally in 4 patients, hippocampal atrophy in 1, and unremarkable in 1.
This study indicates that epilepsy secondary to neonatal hypoglycemia is intractable during infancy and early childhood with frequent status epilepticus but tends to decrease in older age.
Epilepsy research 11/2009; 88(2-3):93-9. · 2.48 Impact Factor
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Pediatrics International 09/2009; 51(4):579-82. · 0.63 Impact Factor
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ABSTRACT: A patient with a 47,XX,+der(22)t(11;22)(q23.3;q11.2) karyotype exhibited brisk tendon reflex and Babinski sign with suggested pyramidal sign. A three-dimensional computed tomographic reconstruction revealed a T1-T2 vertebral fusion without hemivertebrae. Sagittal magnetic resonance imaging revealed degenerative disk changes, mild disk herniation, and mild spinal cord compression. Congenital vertebral fusion may be one of the anomalies in supernumerary-der(22)t(11;22) syndrome. Once clinical diagnosis of this chromosome aberration is established, radiologic evaluation of vertebrae and spinal neuroimaging should be performed.
American Journal of Medical Genetics Part A 05/2009; 149A(8):1722-6. · 2.39 Impact Factor
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ABSTRACT: Although associated factors are important for the occurrence of neural damage in neonatal hypoglycemia, they are not fully understood. Sixty patients with neonatal hypoglycemia were studied through a review of their medical records in Tottori University Hospital. The patients were classified into two main groups: Group I were patients who had mental retardation, developmental delay, cerebral palsy or epilepsy while Group II were those who were normal in their follow-up. Group I consisted of 12 patients while Group II consisted of 48 patients. The median gestational age was 38 weeks in Group I and 36.7 weeks in Group II. The frequencies of small for gestational age were similar in both groups. Blood glucose levels less than 15 mg/dl were more frequent in Group 1 (50.0%) than in Group 2 (14.6%) (P=0.015). Duration of hypoglycemia was longer in Group I (median, 14 h) than in Group II (median, 1.75 h) (p<0.001). The following factors were more frequent in Group I than in Group II: toxemia (33.3% and 8.3%, p=0.043), fetal distress (58.3% and 14.5%, p=0.004), an Apgar score of less than 5 at 1 min (33.3% and 6.4%, p=0.025), neonatal seizure (53.8% and 4.3%, p<0.001) and pathological jaundice (41.7% and 6.4%, p=0.006). Cranial CT or MRI revealed cerebral lesions in 8 of the 9 Group I patients in follow-up examinations. This study indicates that severe and prolonged neonatal hypoglycemia can cause cerebral lesions and other perinatal risk factors, such as hypoxia, neonatal seizure and pathological jaundice, would exacerbate hypoglycemic brain injuries.
Brain & development 01/2009; 31(9):649-56. · 1.74 Impact Factor
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Yoshiaki Saito,
Kenji Sugai,
Eiji Nakagawa,
Hiroshi Sakuma,
Hirofumi Komaki,
Masayuki Sasaki, Yoshihiro Maegaki,
Kousaku Ohno,
Noriko Sato,
Yuu Kaneko,
Taisuke Otsuki
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ABSTRACT: To determine a management strategy for the epilepsy in children with bilateral cortical malformations, clinical data of 23 patients (age, 3-23 years, M:F=7:16) were retrospectively reviewed. Among these patients, 15 were bedridden and 16 were profoundly retarded and could not even smile. The patients were categorized into the following five groups based on the findings of neuroimaging, seizure types, and electroencephalographic patterns. Group 1: Diffuse cortical malformation with epileptic spasms and secondarily generalized tonic seizures, group 2: diffuse cortical malformation with erratic twitches, group 3: bilaterally extended but not diffuse cortical malformations, group 4: bilateral polymicrogyria with persistent epileptic spasms (Aicardi syndrome), and group 5: bilateral cortical malformation with drop attacks (subcortical band heterotopia and congenital bilateral perisylvian syndrome). Eleven patients suffered from infantile spasms; adrenocorticotropic hormone was effective in group 1 but ineffective in group 4. Treatment of tonic seizures in groups 1-3 and erratic twitching in group 3 with phenobarbital, zonisamide and potassium bromide was beneficial. Epileptic spasms and tonic seizures were prominent in group 4 and were refractory to medical treatment, except that zonisamide, clobazam, and a ketogenic diet were partially or transiently effective. Complex partial and astatic/atonic seizures in group 5 were refractory to medications other than that carbamazepine and clobazam provided limited benefits. Total callosotomy resulted in better seizure control for three patients in group 5, and functional hemispherectomy was effective for one patient in group 4. These results provide the basis for the appropriate choice of medical and surgical treatment for managing bilateral, widespread cortical malformations.
Journal of the Neurological Sciences 12/2008; 277(1-2):37-49. · 2.35 Impact Factor
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ABSTRACT: We report a two-year and one-month-old immunocompetent boy who developed aphasia and right hemiparesis eight months after mild varicella with only a few vesicles. Magnetic resonance images and angiography demonstrated mixed acute and old infarctions of the bilateral middle cerebral arteries. VZV-DNA was detected on polymerase chain reaction analysis of cerebral spinal fluid (CSF). He was treated with intravenous acyclovir and edaravone, and his speech and motor functions had almost recovered after two months. Cerebral lesions of the bilateral middle cerebral artery territories and virus DNA detection from CSF are rare in VZV-related vasculopathy and suggest incomplete immunoresponse to varicella in this patient.
Brain & development 10/2008; 31(1):86-9. · 1.74 Impact Factor
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Yuji Fujii,
Yoshiaki Saito,
Toshihide Ogawa,
Shinya Fujii,
Hideki Kamitani,
Shinji Kondo,
Yasushi Horie,
Masami Togawa,
Michio Senda, Yoshihiro Maegaki,
Kousaku Ohno
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ABSTRACT: We herein report a 12-year-old girl with a basal ganglia germinoma who presented with right-sided hemiparesis after a minor head trauma. Magnetic resonance (MR) imaging revealed a minimally enhanced lesion involving the left putamen, thalamus, and corona radiata. The lesion showed low-signal intensity on T1-, and high intensity on T2- and diffusion-weighted imaging. The MR signal in the adjacent globus pallidum was also low on T2-weighted imaging. MR spectroscopy on the lesion showed a large lactate/lipid/macromolecule peak with a decreased NAA/Cr ratio, but no increase in the Cho/Cr ratio. However, posttraumatic infarction at the territory of lateral lenticulostriate artery was ruled out 1 month later. This was based on progression of the hemiparesis and neuroimaging results, including an increased Cho/Cr ratio and weak uptake on (11)C-methionine positron emission tomography of the basal ganglia lesion. Stereotaxic brain biopsy confirmed the diagnosis of germinoma.
Journal of the Neurological Sciences 08/2008; 270(1-2):189-93. · 2.35 Impact Factor
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ABSTRACT: We report on a boy with bilateral optic nerve hypoplasia and mild psychomotor retardation. At 1 year and 9 months of age, he was admitted to hospital with a cluster of febrile convulsions and unconsciousness. Magnetic resonance imaging (MRI) revealed widespread areas of high signal intensity on diffusion-weighted imaging of the deep cerebral white matter and corpus callosum. This imaging disappeared at five days of illness. No atrophy or abnormalities were noted on the 6-month follow-up MRI. Despite full recovery after the acute episode, the patient showed retarded developmental progress. We discuss the differential diagnosis for this case.
Brain and Development 07/2008; 30(6):434-6. · 2.12 Impact Factor
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Ariko Takeuchi,
Hiroaki Ehara,
Kyoichi Ohtani, Yoshihiro Maegaki,
Yukiko Nanba,
Ikuo Nagata,
Mitsuo Toyoshima,
Akiko Kondo,
Shoji Nakai,
Kenzo Takeshita,
Kousaku Ohno
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ABSTRACT: One hundred sixty-four patients with Down syndrome (DS) were confirmed in Tottori Prefecture, Japan, from 1980 to 1999. The sex ratio of 1.52 (99 males and 65 females) was comparable to that reported in previous studies. The live birth prevalence per 1,000 was 1.52 (95% CI: 1.29-1.75) from 1980 to 1999, with a prevalence of 1.34 (95% CI: 1.05-1.63) recorded between 1980 and 1989, and 1.74 (95% CI: 1.37-2.11) between 1990 and 1999. There was no statistically significant change between these two decades (chi(2)-test). Live birth prevalence in these two decades showed a significant increase (chi(2)-test, P < 0.005) compared with that recorded in 1969-1978 in Tottori Prefecture (0.803, 95% CI: 0.677-0.929). Mean ages of mothers at the birth of a DS patient were 31.0 years in 1980-1989 and 32.4 years in 1990-1999 (t-test, no significant difference). Dispersion analysis on the mean age of mothers at birth for patients born between 1969-1978, 1980-1989, and 1990-1999 showed a significant difference (t-test, P < 0.005), while comparing the mean age of mothers in 1969-1978 to those in 1990-1999 also revealed a significant difference (t-test, P < 0.001). Live birth prevalence has increased due to the rise in fertility rates among older women, although maternal age-specific risk rates remain unchanged. The widespread introduction of induced abortion following prenatal diagnosis decreased live birth prevalence of DS largely in European (and a few Asian) countries after 1990, or kept prevalence steady, despite increasing fertility rates among women aged 30 and over. In contrast, all published studies have reported an increase in live birth prevalence of this syndrome in Japan, probably resulting from the fact that prenatal diagnoses are used only exceptionally in this country (due to the negative attitude toward selection of life in Japanese culture).
American Journal of Medical Genetics Part A 07/2008; 146A(11):1381-6. · 2.39 Impact Factor
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ABSTRACT: Adrenocorticotrophic hormone (ACTH) therapy is an established treatment for West syndrome. However, some patients may relapse after this therapy, for whom there is no established treatment. We describe 3 patients with symptomatic West syndrome and multiple, poor prognostic factors who relapsed after initial ACTH therapy. They were treated with a second round of ACTH therapy, i.e., daily intramuscular injection for 2-3 weeks and subsequent withdrawal, alternative days for 1 or 2 weeks, every 3 days for 1 or 2 weeks, followed by weekly or biweekly for >/=1 year. Clinical seizures and hypsarrhythmia resolved in all 3 patients within 4 weeks, and these clinical improvements continued through a second round of ACTH therapy. Two patients developed other types of seizures and aggravation of paroxysms on electroencephalography, but no hypsarrhythmia, soon after termination of ACTH therapy. In the other patient, although electroencephalographic findings remained normal during weekly ACTH therapy, focal sharp waves with irregular slow waves appeared after the injection interval became biweekly. After a second round of ACTH therapy, all patients exhibited developmental progress, particularly in gross motor development and visual functions. No serious adverse events occurred during treatment. Long-term weekly ACTH therapy is a potentially effective treatment option for relapsed West syndrome.
Pediatric Neurology 06/2008; 38(6):445-9. · 1.52 Impact Factor
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ABSTRACT: Numerous numbers of pre-, peri- and postnatal damages cause West syndrome in early infancy, however, etiology in many cases are not still elucidated despite intensive biochemical and neuroradiologic investigations. We described four patients having early onset epileptic encephalopathy with severe hypomyelination and reduction in cerebral white matter. The clinical symptoms of these patients are impaired visual attention, acquired microcephaly, spastic tetraplegia, profound psychomotor delay and infantile spasms since early infancy. All patients had striking hypomyelination of cerebrum, reduced volume of white matter and cortical atrophy on MRI. Serial MRI investigations in three patients showed absence of myelination of the white matter. On EEG, one patient revealed suppression-burst and other three had hypsarrhythmia. Despite having intractable seizures, no patient showed deterioration of neurological development. The group of these findings is mimicking to clinical manifestations of 3-phosphoglycerate dehydrogenase deficiency, and has some overlap with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) like syndrome, however it is not compatible with these two conditions. The findings observed in our patients can be regarded as a new clinical condition associated with early onset West syndrome.
Brain and Development 06/2008; 30(5):349-55. · 2.12 Impact Factor
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ABSTRACT: This report describes a female infant with cutis laxa, short stature, microcephaly, wide anterior fontanel and bifrontal cortical malformation. Isoelectrofocusing of plasma transferrin and apolipoprotein C-III showed abnormal patterns suggesting defective N- and O-glycosylation. Together with recently reported patients, this patient represents a novel type of congenital disorder of glycosylation.
European Journal of Paediatric Neurology 06/2008; 12(3):262-5. · 2.12 Impact Factor
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Yoshiaki Saito,
Mitsuo Toyoshima,
Akira Oka,
Luan Zhuo,
Shin-ichi Moriwaki,
Osamu Yamamoto,
Susumu Kanzaki,
Kei-ichi Hanaki,
Haruaki Ninomiya,
Eiji Nanba,
Akiko Kondo, Yoshihiro Maegaki,
Kousaku Ohno
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ABSTRACT: We report on an 8-year-old boy with mental retardation and spastic tetraparesis associated with atrophic skin on the face and extremities, telangiectasia, and severe dental caries. Basal ganglia calcification and multiple lesions in the subcortical white matter have been present since infancy. The patient has complications of liver dysfunction, multiple endocrine defects, and elevation of blood/cerebrospinal fluid lactate. Extensive laboratory examinations, including skin and muscle biopsies, and UV- and mitomycin C-sensitivity tests on fibroblasts, provided no evidence of a specific disease entity. No deterioration was noted, and supplementation of riboflavin and other vitamins had no apparent effect on the neurodevelopmental status of this patient. This patient may represent a novel disease entity, with unclear pathogenesis.
Brain and Development 04/2008; 30(3):221-5. · 2.12 Impact Factor
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ABSTRACT: We describe the serial magnetic resonance imaging (MRI) findings in a six-year-old girl with congenital adrenal hyperplasia, who presented with seizures and unconsciousness during a hypoadrenal crisis. Initial neuroimaging revealed the presence of brain edema with high signal changes in the fronto-parietal cortex on diffusion-weighted MRI. The brain edema worsened four days into admission, and by day 14 low-density areas were seen over the frontal lobes bilaterally using computed tomography (CT). Follow-up MRI at between one and two months of admission revealed extensive white matter lesions with high intensity on T2-weighted images (T2WI) and fluid-attenuated inversion recovery (FLAIR) images, which extended into deep cortical layers. Additionally, linear lesions with high signal change on T1-weighted imaging developed in the superficial cortical layers, with frontal predominance. This layer appeared isointense on T2WI and high intensity on FLAIR images, suggesting laminar cortical necrosis. Two months later, linear, cavitary lesions appeared in the middle cortical layers between the aforementioned superficial laminar abnormality and deep cortex/white matter lesions. The high-intensity signals in the deep cortical layers remained contiguous with the white matter lesions. This unique type of multi-layered cortical lesion may have resulted from a complex combination of hypoglycemia and hypoxia/ischemia in the setting of adrenal insufficiency.
Brain and Development 02/2008; 30(1):77-81. · 2.12 Impact Factor
