Kaori Masuko

Tokyo Women's Medical University, Edo, Tōkyō, Japan

Are you Kaori Masuko?

Claim your profile

Publications (6)7.25 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: We report two female cases of acute disseminated encephalomyelitis with onset of 19 and 15 months, respectively. MRI demonstrated the T2-high lesions in the cerebral and cerebellar white matter, and the basal ganglia in addition to the spinal cord in the latter case. Treatment with high dose of intravenous methylprednisolone was effective to ameliorate the symptoms in both cases, although spasticity persists in the leg of the latter case. We review ten Japanese cases of acute disseminated encephalomyelitis with the onset before the age of 24 months, including our cases and eight reported cases in the literatures. And we found no significant interrelationships between age of onset and clinical features.
    No to hattatsu. Brain and development 10/2006; 38(5):363-7.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Pallister-Killian syndrome (PKS) is a disorder caused by a mosaic tetrasomy of chromosome 12p, which manifests with dysmorphism, intellectual disabilities, auditory disturbance, and epilepsy. Here, we describe the findings of brain magnetic resonance (MR) imaging in two patients with PKS. One patient, a 43-year-old man, showed multiple lesions with high signal intensity on T2-weighted image (WI) in the basal ganglia, and widespread T2 elongation in the periventricular white matter. The same signal change was also present in the pontine base. The other patient, a 37-year-old woman, showed T2-high lesions in the bilateral putamina and the parietal periventricular white matter. There was prominent atrophy of the cerebellum and brainstem in this latter case. Both cases showed cortical atrophy with frontal predominance, with accompanying dilatation of the lateral ventricles. Hypoplastic corpus callosum was also present in both cases. Cerebral atrophy with ventricular dilatation has been often described in PKS cases, but many of the MR findings in the present patients have never been reported. Such findings may appear with advancing age in PKS. Since 12p mosaicism is rarely detected in peripheral blood lymphocytes, examination of buccal mucosal cells with fluorescent in situ hybridization method is preferable for the diagnosis of PKS. Recognition of the characteristic features on cranial MR imaging, in addition to the characteristic facial appearance in adulthood, should prompt the correct diagnosis of adult PKS patients.
    Brain and Development 02/2006; 28(1):34-8. · 1.67 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: We report on three patients with xeroderma pigmentosum group A (XPA) who showed laryngeal stridor in their 20s. The stridor appeared on feeding and emotional excitation, was exaggerated during respiratory infection and was life-threatening on some occasions. Adduction of the vocal cords during inspiration, observed by laryngoscopy, confirmed laryngeal dystonia in all cases. This type of focal dystonia may be characteristic in XPA and requires special attention during the management of these patients to avoid serious complications.
    Brain and Development 01/2006; 27(8):598-601. · 1.67 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: We report the case of a 2-year-old boy who experienced total asphyxia at 4 months of age, and suffered abnormalities at specific phases of the respiratory cycle. The patient was bedridden due to severe tetraplegia and showed little response to external stimuli. He has been tube-fed since the initial asphyxia and a tracheotomy was performed after recurrent hypoxic episodes as a result of the respiratory dysfunction. Upon examination, his respiratory pattern was characterized by arrest during the inspiratory phase with a possible over-riding secondary inspiration. The respiratory pause at the inspiratory phase was markedly prolonged during an episode of pulmonary infection, resulting in recurrent cyanosis that necessitated artificial ventilation. The "second" inspiration typically occurred during the mid- or late-inspiratory phases, with this pattern often shown to be variable after epileptic seizures. The characteristic breathing of this patient suggested that difficulty in forming a normal respiratory cycle, other than during periods of hypoventilation or apnoea, could be a significant respiratory dysfunction following asphyxiation. Strategies for the management of such patients should be carefully designed after close observation of breathing patterns within the respiratory cycle, and with consideration for the influence of epileptic seizures and other inputs from somatic afferents.
    No to hattatsu. Brain and development 10/2005; 37(5):419-23.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Alexander disease is a hereditary disorder of myelin degeneration. The pathological feature of the brain is the characteristic inclusion bodies in astrocytes called Rosenthal fibers. The major components of the Rosental fibers are known to be alpha B-crystallin and glial fibrillary acidic protein (GFAP). In recent years, reports have indicated mutations of the GFAP gene in patients with Alexander disease. The R239 mutation (R239C, R239H) tends to cause comparatively more severe conditions among the GFAP mutations. In this study. we examined a long-term survival case of a patient (age 25 years, 7 months) with infantile Alexander disease with an R239C mutation confirmed by DNA analysis. There are no past reports of subjects with the R239C mutation who had as prolonged a long-term survival as our case. Our subject's condition was not as severe as those with the R239H mutation. The clinical progress in those other reports also varied by case. The R239C mutation does not show as much correlation with the clinical presentation as the R239H mutation. We believe that factors such as the environment also play a part in the prognosis of the disease.
    No to hattatsu. Brain and development 02/2005; 37(1):55-9.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Sibling Cases of Early Myoclonic Encephalopathy Involving Two Families. * SumimasaYamashita, * HirokoIwamoto, * MichikoYamada, * MizueIai, * KaoriMasuko, * KazuyoWakabayashi, and † KenjiSugai Kanagawa Children's Medical Center, Division of Child Neurology, Yokohama ; and National Center of Neurology and Psychiatry, Musashi Hospital, Division of Child Neurology, Kodaira, Japan. Purpose: We encountered four cases of early myoclonic encephalopathy, consisting of two sets of siblings in two families. In family S, the elder sister is 7 years old now, severely handicapped and demonstrating both uncontrolled myoclonic and short tonic seizures as well as severe hepatic cirrhosis. The younger brother died at age 9 months. In another family O, the elder sister died at age 1 year, and the younger sister died at age 3 months. Each pregnancy was normal, and the deliveries were term, and all infants showed normal birth weight and normal head circumference. None of the infants was severely asphyxiated. Methods: The clinical record of these four cases revealed that the first seizure commenced within 1.5 months after birth, and seizure types were tonic spasms and myoclonic and clonic seizures. A suppression burst pattern was found in all cases at the beginning and then changed to focal or multifocal abnormalities thereafter. None of the cases showed hypsarrhythmia on EEG. In family S, both cases had minor anomalies such as characteristic facial appearances and finger overlapping. Results: Brain MRI showed severe brain atrophy in all cases but none of the cases showed cortical dysgenesis. In family O, the elder sister showed progressive cerebral and cerebellar atrophy, and the younger sister showed myelinating arrest of the cerebral white matter. Developmental milestones were arrested since the neonatal period in four cases. All cases had severe microcephalus, spastic tetraplegia, and severe mental retardation. Laboratory examination revealed no abnormal findings including CBC, chemistry, lactate, pyruvate, amino acids analysis, organic acids analysis, lysosomal enzymes assay using white blood cells, cerebrospinal fluid examination, and urinalysis. Chromosomal study was normal in all cases. Anticonvulsants such as oral high-dose phenobarbital, intravenous phenytoin for focal onset seizures, and zonisamide for apneic attacks were all effective to a moderate extent in some cases but did not reach complete seizure control. Autopsies were performed in two cases. Severe gliosis of cerebral white matter and marked dendritic expansions of cerebellar Purkinje cells were seen in both cases. No storage materials of neuronal and glial cells or laminar structural abnormalities of the cerebral cortex were found. Conclusions: It is important to differentiate from early infantile epileptic encephalopathy, which is characterized by severe asphyxia, brain anomaly, or cortical dysgenesis as a cause, tonic spasm in the seizure pattern of the onset, and alteration to West syndrome. Our cases did not fulfill these points. The main type of seizure was myoclonic or erratic myoclonia. Early myoclonic encephalopathy (EME) is known in cases of nonketotic hyperglycinemia or other inherited metabolic disorders as a cause of the disease. We could not detect metabolic abnormalities in the cases described. However, EME was suspected to have developed because of some genetic factors that might have influenced the development of the infantile nervous system.
    Epilepsia 01/2004; 45. · 3.91 Impact Factor

Publication Stats

10 Citations
7.25 Total Impact Points

Top co-authors View all

Institutions

  • 2006
    • Tokyo Women's Medical University
      Edo, Tōkyō, Japan