Publications by authors named "Sahoko Miyama"

28 Publications

  • Page 1 of 1

Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.

Am J Med Genet A 2021 03 27;185(3):884-888. Epub 2020 Dec 27.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozygous mutation in PACS2, that is, c.625G > A p.(Glu209Lys). This specific mutation was previously reported in a patient with PACS2-related disorder (early infantile epileptic encephalopathy 66). De novo heterozygous mutations in WDR37 have been shown to cause a novel human disorder, neurooculocardiogenitourinary syndrome (NOCGUS syndrome) (OMIM #618652), characterized by intellectual disability, facial dysmorphism, and coloboma. According to large-scale interactome data, WDR37 interacts most strongly, by far, with PACS1 and PACS2. Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder. Our review of the phenotypes of three human disorders caused by WDR37, PACS1, and PACS2 mutations showed a significant overlap of epilepsy, intellectual disability, cerebellar atrophy, and facial features. The present observation of coloboma as a shared feature among these three disorders suggests that this group of genes may be involved in ocular development. We propose that dysregulation of the WDR37-PACS1-PACS2 axis results in a spectrum that is recognizable by intellectual disability, distinctive facial features, and coloboma.
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http://dx.doi.org/10.1002/ajmg.a.62020DOI Listing
March 2021

Refractory cerebral infarction in a child with an ACTA2 mutation.

Brain Dev 2021 Apr 17;43(4):585-589. Epub 2020 Dec 17.

Department of Neurology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan.

Introductions: A specific mutation in the ACTA2 gene is known to cause multisystemic smooth muscle dysfunction syndrome, which is associated with cerebrovascular diseases and various organ disorders. Cerebral infarctions resulting from severe vasculopathy can be refractory; however, there are no previous reports describing the detailed clinical course of recurrent cerebral infarctions due to an ACTA2 mutation. Herein, we report a patient with an ACTA2 mutation who experienced multiple refractory cerebral infarctions in early childhood.

Patient Description: The patient was aged 1 year and 5 months at her first episode of cerebral infarction. Arteriopathy due to an ACTA2 mutation was diagnosed based on the characteristic cerebrovascular findings and abnormal physical findings, such as bilateral dilated pupils. Bilateral encephaloduroarteriosynangiosis and encephalogaleosynangiosis were performed after the first episode. Because the cerebral infarctions recurred postoperatively, administration of cilostazol followed by bosentan was started. However, despite these treatments she experienced seven cerebral infarctions by age 2 years and 6 months.

Interpretation: Cerebral infarctions in patients with a specific ACTA2 mutation can occur even in early childhood, recur frequently, and cause severe motor and cognitive impairment. Physicians should be highly aware of this disease and be ready to provide the medical and surgical interventions necessary to minimize the disabling sequelae.
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http://dx.doi.org/10.1016/j.braindev.2020.12.001DOI Listing
April 2021

Nonsense variants of result in distinct congenital anomalies.

Hum Genome Var 2020 18;7:26. Epub 2020 Sep 18.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Herein, we report two female cases with novel nonsense mutations of at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) in Case 2 (a 7-year-old girl with white matter hypoplasia and cleft palate). X inactivation was highly skewed in both cases.
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http://dx.doi.org/10.1038/s41439-020-00114-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501222PMC
September 2020

Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.

J Hum Genet 2020 09;65(9):811

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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http://dx.doi.org/10.1038/s10038-020-0782-2DOI Listing
September 2020

White matter abnormality in Jacobsen syndrome assessed by serial MRI.

Brain Dev 2020 Sep 5;42(8):621-625. Epub 2020 Jun 5.

Department of Neurology, Tokyo Metropolitan Children's Medical Center, Japan.

Introduction: Jacobsen syndrome (JS) is caused by a deletion at the terminus of the long arm of chromosome 11. There are few reports of JS associated with cerebral white matter abnormalities (WMA), and the etiology, pathophysiology, and time-dependent changes in WMA with JS still remain unclear.

Case Report: The patient was a 2-month-old female with several morphological anomalies, including trigonocephaly, ectropion, flat nasal bridge, low-set ears, and sparse eyebrows. Chromosome analysis (G-banding karyotyping) of 46,XX,del(11)(q23.3) led to the diagnosis of JS. Head MRI performed at age 9 months indicated diffuse WMA with hyperintense signals on T2-weighted imaging. MRI at age 2.5 years demonstrated a decrease in the WMA and progressive myelination.

Discussion: These findings suggested that the WMA in the present patient were due to chronic white matter edema associated with a deletion in the 11q terminal region of HEPACAM/GlialCAM, a causative gene for megalencephalic leukoencephalopathy with subcortical cysts type 2B (MLC2B). As with some of MLC2B patients, the WMA in the present patient improved over time. The present report is the first to document dramatic changes in WMA in JS visualized by serial MRI examinations from the neonatal period through early childhood.

Conclusion: The findings of the present study suggested that WMA in JS are due to chronic white matter edema associated with HEPACAM/GlialCAM deletion and show gradual improvement over time, as seen in some MLC2B patients.
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http://dx.doi.org/10.1016/j.braindev.2020.05.001DOI Listing
September 2020

Coma and seizure caused by an afloqualone overdose.

Pediatr Int 2019 Feb;61(2):212-213

Department of Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1111/ped.13777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850479PMC
February 2019

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.

J Hum Genet 2019 May 14;64(5):487-492. Epub 2019 Feb 14.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

We herein report two individuals with novel nonsense mutations in STAG2 on Xq25, encoding stromal antigen 2, a component of the cohesion complex. A male fetus (Case 1) clinically presented with holoprosencephaly, cleft palate and lip, blepharophimosis, nasal bone absence, and hypolastic left heart by ultrasonography at 15 gestational weeks. Another female patient (Case 2) showed a distinct phenotype with white matter hypoplasia, cleft palate, developmental delay (DD), and intellectual disability (ID) at 7 years. Whole-exome sequencing identified de novo nonsense mutations in STAG2: c.3097C>T, p.(Arg1033*) in Case 1 and c.2229G>A, p.(Trp743*) in Case 2. X-inactivation was highly skewed in Case 2. To date, only 10 STAG2 pathogenic variants (four nonsense, four missense, and two frameshift) have been reported in patients with multiple congenital anomalies, ID, and DD. Although Case 2 showed similar clinical features to the reported female patients with STAG2 abnormalities, Case 1 showed an extremely severe phenotype, which could be explained by the first detected truncating variant in males.
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http://dx.doi.org/10.1038/s10038-019-0571-yDOI Listing
May 2019

Intermittent Erythema in Guillain-Barré Syndrome.

Pediatr Neurol 2018 07 20;84:56. Epub 2017 Jun 20.

Division of Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.06.007DOI Listing
July 2018

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

Am J Med Genet A 2017 May 4;173(5):1353-1357. Epub 2017 Apr 4.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Among more than 5,000 human monogenic disorders with known causative genes, transposable element insertion of a Long Interspersed Nuclear Element 1 (LINE1, L1) is known as the mechanistic basis in only 13 genetic conditions. Meckel-Gruber syndrome is a rare ciliopathy characterized by occipital encephalocele and cystic kidney disease. Here, we document a boy with occipital encephalocele, post-axial polydactyly, and multicystic renal disease. A medical exome analysis detected a heterozygous frameshift mutation, c.4582_4583delCG p.(Arg1528Serfs*17) in CC2D2A in the maternally derived allele. The further use of a dedicated bioinformatics algorithm for detecting retrotransposon insertions led to the detection of an L1 insertion affecting exon 7 in the paternally derived allele. The complete sequencing and sequence homology analysis of the inserted L1 element showed that the L1 element was classified as L1HS (L1 human specific) and that the element had intact open reading frames in the two L1-encoded proteins. This observation ranks Meckel-Gruber syndrome as only the 14th disorder to be caused by an L1 insertion among more than 5,000 known human genetic disorders. Although a transposable element detection algorithm is not included in the current best-practice next-generation sequencing analysis, the present observation illustrates the utility of such an algorithm, which would require modest computational time and resources. Whether the seemingly infrequent recognition of L1 insertion in the pathogenesis of human genetic diseases might simply reflect a lack of appropriate detection methods remains to be seen.
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http://dx.doi.org/10.1002/ajmg.a.38167DOI Listing
May 2017

[Irreversible cerebral ischemia caused by febrile status epilepticus in Sturge-Weber syndrome type III].

No To Hattatsu 2017 03;49(2):126-9

We report a 9-year-old girl with Sturge-Weber syndrome (SWS) type III, whose motor function deteriorated after an episode of febrile status epilepticus. The patient had leptomeningeal angiomas in the left temporal, occipital, and parietal lobes. Complex partial seizures, which started at 8 months, were controlled by antiepileptic medications. At 9 years of age, she developed irreversible ischemic lesions in the left temporal and occipital regions after the febrile status epilepticus and her motor function deteriorated. In addition to antiepileptic medications, aspirin therapy was started.SWS type III is a rare disorder characterized by leptomeningeal angiomatosis without facial nevus. In addition to the chronic ischemia in the affected cortex, epileptic seizures result in a phased progression of ischemia in SWS. Although the patient’s complex partial seizures had been well-controlled, a single episode of febrile status epilepticus resulted in permanent brain lesions. The impairment of appropriate hemodynamic response to status epilepticus, together with venous hypertension in the affected side in SWS may have caused the cerebral infarction in our case. Seizure control is crucial to improving the neurological prognosis of SWS.
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March 2017

Recurrent Lingual Abscess in a Child.

Pediatr Infect Dis J 2017 07;36(7):694-695

From the Departments of *Children and Family Support, †Surgery, and ‡Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

We report the case of a 14-month-old boy who developed a swelling of the tongue with fever, dyspnea during sleep and dysphagia. An anterior lingual abscess was identified by magnetic resonance imaging. He developed 4 recurrent lingual abscesses thereafter. Pediatricians should be aware of this problem because it can be a life-threatening condition.
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http://dx.doi.org/10.1097/INF.0000000000001515DOI Listing
July 2017

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.

Am J Med Genet A 2016 12 11;170(12):3249-3252. Epub 2016 Aug 11.

Department of Neurology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.

Mutations in the BAF complex (mammalian SWI/SNF complex) are responsible for Coffin-Siris syndrome, which is characterized by developmental delay, distinctive facial features, hirsutism, and hypoplasia/aplasia of the fifth finger/fingernails. Hirschsprung disease is characterized by defective stem cells in the enteric neural system, and the involvement of multiple signaling cascades has been implicated. So far, the roles of the BAF complex in the genesis of Hirschsprung disease have remained unknown. Here, we document a patient with coarse facial features, postnatal growth failure, developmental delay, epilepsy, and hypoplasia of the corpus callosum and cerebellum but without a hypoplastic fifth finger/fingernail. In addition, he had Hirschsprung disease. Exome sequencing with a gene set representing a total of 4,813 genes with known relationships to human diseases revealed a heterozygous frameshift mutation in ARID1B (c.5789delC p.Pro1930Leufs*44). The presence of a congenital cataract and Hirschsprung disease in the presently reported patient further expands the phenotypic spectrum of patients with ARID1B mutations and may suggest the potential role of the BAF complex in the pathogenesis of the enteric neural system. The present observation is in agreement with a recent study of Drosophila neuroblasts showing that the dysregulated BAF complex leads to an abnormal lineage progression of neural stem cell lineages and that Hirschsprung disease is caused by abnormal stem cell lineages in the peripheral neural tissues. © 2016 Wiley Periodicals, Inc.
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http://dx.doi.org/10.1002/ajmg.a.37861DOI Listing
December 2016

[We fully enjoy our career and life].

No To Hattatsu 2016 May;48(3):159-68

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May 2016

Epidemiology of Pediatric Convulsive Status Epilepticus With Fever in the Emergency Department: A Cohort Study of 381 Consecutive Cases.

J Child Neurol 2016 09 8;31(10):1257-64. Epub 2016 Jun 8.

Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

Pediatric convulsive status epilepticus with fever is common in the emergency setting but leads to severe neurological sequelae in some patients. To explore the epidemiology of convulsive status epilepticus with fever, a retrospective cohort covering all convulsive status epilepticus cases with fever seen in the emergency department of a tertiary care children's hospital were consecutively collected. Of the 381 consecutive cases gathered, 81.6% were due to prolonged febrile seizure, 6.6% to encephalopathy/encephalitis, 0.8% to meningitis, and 7.6% to epilepsy. In addition, seizures were significantly longer in encephalopathy/encephalitis cases than in prolonged febrile seizure cases (log rank test, P < .001). These results provide for the first time the pretest probability of final diagnoses in children with convulsive status epilepticus with fever in the emergency setting, and will help optimize the management of pediatric patients presenting to the emergency department with convulsive status epilepticus with fever.
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http://dx.doi.org/10.1177/0883073816652234DOI Listing
September 2016

The absence of later wave components in auditory brainstem responses as an initial manifestation of type 2 Gaucher disease.

Pediatr Neurol 2014 Dec 6;51(6):837-9. Epub 2014 Sep 6.

Department of Neurology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.

Background: Type 2 Gaucher disease is the most severe neuronopathic form of Gaucher disease and is characterized by severe neurodegeneration with brainstem involvement and organ failure. Prediction or diagnosis of type 2 Gaucher disease before the development of neurological complications is difficult.

Patient: A 5-month-old female infant presented with deafness without other neurological abnormalities. Auditory brainstem response analysis revealed the absence of later wave components. Two months later, muscular rigidity became evident, followed by the development of opisthotonus and strabismus. Rapid progression of splenomegaly led to the diagnosis of type 2 Gaucher disease.

Conclusions: Abnormal auditory brainstem response findings may already exist before the development of severe brainstem abnormalities such as muscular rigidity and opisthotonus in type 2 Gaucher disease. When patients present with deafness and absent later wave components on auditory brainstem response, type 2 Gaucher disease should be included in the differential diagnosis even in the absence of other neurological abnormalities.
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http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.029DOI Listing
December 2014

[Acute encephalitis presenting with symmetrical involvement of the bilateral basal ganglia].

No To Hattatsu 2013 Nov;45(6):457-60

Department of Neurology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo.

A 8-year-old girl was hospitalized with consciousness disturbance and involuntary movements five days after the onset of fever. Cranial MRI revealed symmetrical involvement of the bilateral basal ganglia with elevated ADC mapping, suggesting vasogenic edema.Her clinical symptoms improved with methylprednisolone pulse therapy without neurological sequelae. The rapid antigen test for group A beta-hemolytic streptococcus was positive and serum ASO was elevated. Myelin basic protein in cerebrospinal fluid was elevated. We suggest that the pathophysiological mechanism in the present case was not necrotic/cytotoxic but autoimmune inflammation, which is compatible with acute disseminated encephalomyelitis associated with streptococcal infection.
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November 2013

Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.

Ann Neurol 2012 Jan;71(1):84-92

Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.

Objective: On the basis of the hypothesis that copy number mutations of the genes encoding myelin compact proteins are responsible for myelin disorders in humans, we have explored the possibility of copy number mutations in patients with Charcot-Marie-Tooth disease (CMT) whose responsible genes remain undefined.

Methods: A family with 6 affected members in 3 consecutive generations, presenting with motor and sensory demyelinating polyneuropathy, was investigated. Characteristic clinical features in this pedigree include Adie pupils and substantial intrafamilial variability in the age at onset, electrophysiological findings, and clinical severity. Nucleotide sequence analyses of PMP22, MPZ, or GJB1 and gene dosage study of PMP22 did not reveal causative mutations. Hence, we applied a custom-designed array for comparative genomic hybridization (CGH) analysis to conduct a comprehensive screening of copy number mutations involving any of the known causative genes for CMT other than PMP22.

Results: The array CGH analyses revealed increased gene dosage involving the whole MPZ, and the flanking genes of SDHC and C1orf192. The gene dosage is estimated to be 5 copies. This mutation showed complete cosegregation with the disease phenotype in this pedigree.

Interpretation: The increased gene dosage of MPZ and increased expression level of MPZ mRNA emphasize the important role of the dosage of the MPZ protein in the functional integrity of peripheral nerve myelin in humans, and provide a new insight into the pathogenic mechanisms underlying CMT.
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http://dx.doi.org/10.1002/ana.22658DOI Listing
January 2012

[Acute encephalopathy with biphasic seizures and late reduced diffusion with visual disturbance and higher brain dysfunction].

No To Hattatsu 2011 Jul;43(4):295-9

Department of Neurology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Tokyo.

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a recently described clinicoradiologic syndrome. Clinically, a prolonged febrile seizure is followed by subsequent seizures which occur several days after the initial seizure. On MRI, reduced diffusion appears predominantly in the frontoparietal subcortical white matter at the time of the subsequent seizures. The main symptom between the initial and subsequent seizures is disturbance of consciousness. We report a case with AESD who presented 1) reduced diffusion on MRI which was dominant in the occipital lobe, and 2) reversible visual disturbance followed by higher brain dysfunction such as a cognitive deficit and disturbed speech. A 2-year-old Japanese girl was admitted because of visual disturbance which appeared 4 days after a generalized tonic-clonic seizure associated with fever. Two days later, she had another seizure when MRI revealed reduced diffusion in the subcortical white matter. The MRI finding was not typical of AESD in that reduced diffusion appeared dominantly in the occipital lobe. Normal ophthalmologic findings and abnormal visual evoked potential results suggested that her visual disturbance was due to an impaired visual pathway in the subcortical white matter in the occipital lobe. The present case indicates that there is a subgroup of AESD in which the subcortical lesion seen on MRI is dominant in the occipital lobe.
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July 2011

Afebrile seizures associated with respiratory syncytial virus infection: a situation-related seizure disorder in early infancy.

Pediatr Int 2011 Feb;53(1):113-5

Department of Neurology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1442-200X.2010.03188.xDOI Listing
February 2011

Children with posterior reversible encephalopathy syndrome associated with atypical diffusion-weighted imaging and apparent diffusion coefficient.

Clin Exp Nephrol 2011 Apr 10;15(2):275-80. Epub 2010 Dec 10.

Department of Pediatric Nephrology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan.

Posterior reversible encephalopathy syndrome (PRES) is a reversible, predominantly posterior, leukoencephalopathy associated with renal insufficiency, hypertension, or immunosuppressant drugs. We describe two children with PRES whose primary diagnoses were idiopathic nephrotic syndrome and lupus nephritis. Cranial magnetic resonance (MR) imaging at the onset of PRES showed strong hyperintense signals on diffusion-weighted imaging with restricted apparent diffusion coefficient values predominantly in the posterior region. Such findings have been rarely reported in children with PRES and initially suggested irreversible brain damage; however, both children fully recovered clinically as well as radiologically. Our findings suggest the limitations of cranial MR imaging for diagnosing PRES. Further experience with cranial MR imaging, including diffusion-weighted imaging with apparent diffusion coefficient mapping, is required to improve diagnostic accuracy and the ability to predict outcomes in patients with early-stage PRES. At present, initial imaging studies do not necessarily provide sufficient evidence for a firm diagnosis of PRES or the prediction of outcomes.
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http://dx.doi.org/10.1007/s10157-010-0380-2DOI Listing
April 2011

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

Epilepsia 2010 Dec 30;51(12):2397-405. Epub 2010 Sep 30.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.

Purpose: De novo STXBP1 mutations have been found in individuals with early infantile epileptic encephalopathy with suppression-burst pattern (EIEE). Our aim was to delineate the clinical spectrum of subjects with STXBP1 mutations, and to examine their biologic aspects.

Methods: STXBP1 was analyzed in 29 and 54 cases of cryptogenic EIEE and West syndrome, respectively, as a second cohort. RNA splicing was analyzed in lymphoblastoid cells from a subject harboring a c.663 + 5G>A mutation. Expression of STXBP1 protein with missense mutations was examined in neuroblastoma2A cells.

Results: A total of seven novel STXBP1 mutations were found in nine EIEE cases, but not in West syndrome. The mutations include two frameshift mutations, three nonsense mutations, a splicing mutation, and a recurrent missense mutation in three unrelated cases. Including our previous data, 10 of 14 individuals (71%) with STXBP1 aberrations had the onset of spasms after 1 month, suggesting relatively later onset of epileptic spasms. Nonsense-mediated mRNA decay associated with abnormal splicing was demonstrated. Transient expression revealed that STXBP1 proteins with missense mutations resulted in degradation in neuroblastoma2A cells.

Discussion: Collectively, STXBP1 aberrations can account for about one-third individuals with EIEE (14 of 43). These genetic and biologic data clearly showed that haploinsufficiency of STXBP1 is the important cause for cryptogenic EIEE.
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http://dx.doi.org/10.1111/j.1528-1167.2010.02728.xDOI Listing
December 2010

[H reflex in patients with spastic quadriplegia].

No To Hattatsu 2009 Jan;41(1):21-6

Shimada Center for Rehabilitation and Neurodevelopmental Intervention, Tama, Tokyo.

Hoffmann reflex (H reflex) is an electrically elicited spinal monosynaptic reflex. H reflex was examined in 18 patients with spastic quadriplegia who had perinatal or postnatal problems. H reflex was elicitable in 11 patients for the abductor pollicis brevis (61.1%), 10 for the abductor digiti minimi (55.6%) and 16 for the abductor hallucis (88.9%). Because the abductor pollicis brevis and the abductor digiti minimi do not exhibit H reflex in normal subjects, it was suggested that the excitability of alpha motor neurons innervating these muscles was increased. H reflex was not detected for the extensor digitorum brevis in any patients, indicating the difference in the excitability among alpha motor neurons. In some patients, H reflex did not disappear under supramaximal stimuli. We conclude that the mechanism of evolution of H reflex in patients with spastic quadriplegia is different from that in normal subjects.
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January 2009

[ACTH therapy for infantile spasms with chronic renal failure].

No To Hattatsu 2008 Sep;40(5):397-401

Department of Neurology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Tokyo.

A one-year-old female patient with infantile spasms who suffered from chronic renal failure was treated with ACTH for the control of frequent tonic spasms. She received 0.005 mg/kg of ACTH for 7 days and then 0.01 mg/kg for 12 days daily. From 12 days after initiation of the treatment, tonic spasms and hypsarrythmia observed on electroencephalography disappeared. During the ACTH treatment, hypertension and gastric bleeding developed, and persisted even with antihypertensive drugs and a H2-blocker treatments. During the ACTH therapy, the serum cortisol level was higher than that in control subjects. Recent advances regarding the metabolism of cortisol have shown that the inactivation of cortisol is impaired in patients with chronic renal failure and that clearance of cortisol from serum is decreased in such patients. It is suggested that the same mechanism was involved in the present patient during the ACTH therapy and that adverse effects of ACTH were related to the high cortisol level in the serum. We conclude that the dose and duration of ACTH therapy should be determined by careful monitoring for the adverse effects of ACTH, and that the serum cortisol level might be a predictor of the side effects of ACTH therapy in a patient with chronic renal failure.
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September 2008

Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features.

Pediatr Neurol 2008 Aug;39(2):120-2

Department of Neurology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.

Male monozygotic twins with genetically determined severe myoclonic epilepsy in infancy are described. Although seizure onset, clinical seizure symptomatology, and motor and mental development were almost identical until age 38 months, their clinical courses then became discordant. The emergence of myoclonus was delayed by 12 months in twin 1 compared with twin 2. Regression in language development, which is a common feature of severe myoclonic epilepsy in infancy, was obvious in twin 2 after the emergence of myoclonus, whereas twin 1 did not demonstrate any regression. The clinical-course discordance between twins was attributable to bacterial meningitis, which twin 1 developed at age 35 months. Bacterial meningitis may have affected the clinical course of severe myoclonic epilepsy in infancy in twin 1, resulting in delayed onset of myoclonus and more favorable language development in twin 1 than in twin 2, who did not experience bacterial meningitis.
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http://dx.doi.org/10.1016/j.pediatrneurol.2008.04.003DOI Listing
August 2008

Generalized nonconvulsive status epilepticus in symptomatic partial epilepsy.

Authors:
Sahoko Miyama

Pediatr Neurol 2007 Mar;36(3):195-8

Department of Neurology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.

A 6-year-old male with cortical dysplasia who developed secondarily generalized nonconvulsive status epilepticus is reported. He had partial epilepsy since the age of 10 months. On electroencephalography, almost continuous left frontocentral/anterior temporal spikes were observed at 3 years of age, which lasted until 6 years of age, when he developed nonconvulsive status epilepticus. Nonconvulsive status epilepticus lasted for more than 7 days. Electroencephalography during nonconvulsive status epilepticus documented almost continuous generalized polyspike-wave complexes suggestive of generalized nonconvulsive status epilepticus. On magnetic resonance imaging, abnormal gyration was observed in the left frontal lobe. Histopathologic analysis of the resected left frontal lobe revealed cortical dysplasia. The present case demonstrates that continuous focal epileptiform discharges caused by cortical dysplasia in the frontal lobe can develop into secondarily generalized nonconvulsive status epilepticus.
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http://dx.doi.org/10.1016/j.pediatrneurol.2006.11.010DOI Listing
March 2007

[Dysgenesis of the carotid artery associated with congenital ipsilateral Horner syndrome].

No To Hattatsu 2007 Jan;39(1):63-5

Department of General Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Tokyo.

We report a case with dysgenesis of the carotid artery associated with congenital Homer syndrome. A 6-year-old boy, who had undergone surgical repair for pulmonary atresia, ventricular septal defect, and patent ductus arteriosus at 20 months of age, presented with miosis of the left eye, and anhidrosis of the left face, neck, and shoulder girdle. Since the anhidrosis was obvious in early childhood, he was suspected as having congenital Horner syndrome. Cranial and cervical CT showed unpredicted abnormalities of the left carotid arteries, including the absence of an internal carotid artery (ICA), and hypoplasia of the common carotid and external carotid arteries. The anterior and middle cerebral arterial flow was supplied through the communicating arteries. Congenital agenesis of the ICA was highly suspected, because the left carotid canal could not be discerned at all. The concurrence of agenesis of ICA with ipsilateral Horner syndrome is accounted for by simultaneous organogenesis of the carotid artery and cervical sympathetic nerve, both of which are derived from neural crest cells. Developmental anomalies of the cervical neural crest, though rare, should be included in the differential diagnosis of congenital Homer syndrome.
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January 2007

Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome.

Am J Med Genet A 2005 Jun;135(2):130-3

Department of Medical Genetics, Clinical Research Institute, Kanagawa Children's Medical Center (KCMC), Yokohama, Japan.

Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and mental retardation. RTS is accompanied by a variety of morbid complications, particularly of the skeleton. Based on the experience of five RTS patients with malformation of the craniovertebral junction, we draw attention to previously unrecognized life-threatening complications of RTS, including instability of C1-C2, os odontoideum, hypoplasia of the dens, and fusion of the cervical vertebrae. One patient developed severe cervical myelopathy. Malformation of the cervical spine may be a common syndromic constituent of RTS, to which special attention should be paid to prevent its neurologic sequelae.
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http://dx.doi.org/10.1002/ajmg.a.30708DOI Listing
June 2005

Leptomeningeal angiomatosis with infantile spasms.

Pediatr Neurol 2004 Nov;31(5):353-6

Department of Neurology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.

We describe a 7-month-old female with leptomeningeal angiomatosis who developed infantile spasms. She did not manifest facial nevus or ocular choroidal angioma. Leptomeningeal angiomatosis is characterized by venous angiomas of leptomeninges and usually accompanied by facial nevus, a condition known as Sturge-Weber syndrome. In Sturge-Weber syndrome, leptomeningeal angiomas can cause infantile spasms but much less frequently than in other neurocutaneous syndromes, such as tuberous sclerosis. This patient is the first reported case of leptomeningeal angiomatosis without facial nevus who developed infantile spasms. Leptomeningeal angiomas should be taken into consideration as a cause of infantile spasms, even in the absence of facial nevus. We suggest that this case is clinically within the spectrum of Sturge-Weber syndrome, and that the embryologic origin of this case is similar to that of Sturge-Weber syndrome.
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http://dx.doi.org/10.1016/j.pediatrneurol.2004.05.010DOI Listing
November 2004