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1. 小児における痙攣およびてんかん：分類、病因、および臨床的特徴 seizures and epilepsy in children classification etiology and clinical features
2. 水頭症 hydrocephalus
3. 小児における読字障害：臨床的特徴および評価 reading difficulty in children clinical features and evaluation
4. 神経管欠損および脳室拡大を除く中枢神経系異常の出生前診断 prenatal diagnosis of cns anomalies other than neural tube defects and ventriculomegaly
5. 結節性硬化症：遺伝学、臨床的特徴、および診断 tuberous sclerosis complex genetics clinical features and diagnosis

English Journal

Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

So J, Stockley T, Stavropoulos DJ.Author information Department of Clinical Genetics, Lakeridge Health Oshawa, Oshawa, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.AbstractJacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal chromosome 11q, generally varying in size from 7 to 20 Mb. Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder in which neurons are abnormally located in nodules along the edges of the lateral ventricles. PVNH can also be seen with other congenital anomalies, including a recurrent association with distal limb defects. Transverse limb defects have previously been reported in two patients with JS. We report on a patient with a 3.162 Mb interstitial deletion at chromosome region 11q24 overlapping the region commonly affected in JS. The patient had PVNH and a transverse limb reduction defect, with minimal typical findings of JS. This is the first report of PVNH associated with a microdeletion at chromosome 11q and may represent an expansion of the phenotypic spectrum associated with JS. This is the third report of transverse limb reduction defects in association with JS, supporting a widening of the skeletal phenotypic spectrum in JS to include more severe limb anomalies. ETS1 is proposed as a candidate gene for involvement in limb anomalies in JS. © 2013 Wiley Periodicals, Inc.
American journal of medical genetics. Part A.Am J Med Genet A.2014 Feb;164(2):511-5. doi: 10.1002/ajmg.a.36292. Epub 2013 Dec 5.
Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal chromosome 11q, generally varying in size from 7 to 20 Mb. Periven
PMID 24311471

Intracranial electroencephalographic seizure-onset patterns: effect of underlying pathology.

Perucca P, Dubeau F, Gotman J.Author information Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.AbstractBecause seizures originate from different pathological substrates, the question arises of whether distinct or similar mechanisms underlie seizure generation across different pathologies. Better defining intracranial electroencephalographic morphological patterns at seizure-onset could improve the understanding of such mechanisms. To this end, we investigated intracranial electroencephalographic seizure-onset patterns associated with different epileptogenic lesions, and defined high-frequency oscillation correlates of each pattern. We analysed representative seizure types from 33 consecutive patients with drug-resistant focal epilepsy and a structural magnetic resonance imaging lesion (11 mesial temporal sclerosis, nine focal cortical dysplasia, six cortical atrophy, three periventricular nodular heterotopia, three polymicrogyria, and one tuberous sclerosis complex) who underwent depth-electrode electroencephalographic recordings (500 Hz filter, 2000 Hz sampling rate). Patients were included only if seizures arose from contacts located in lesional/peri-lesional tissue, and if clinical manifestations followed the electrographic onset. Seizure-onset patterns were defined independently by two reviewers blinded to clinical information, and consensus was reached after discussion. For each seizure, pre-ictal and ictal sections were selected for high-frequency oscillation analysis. Seven seizure-onset patterns were identified across the 53 seizures sampled: low-voltage fast activity (43%); low-frequency high-amplitude periodic spikes (21%); sharp activity at ≤13 Hz (15%); spike-and-wave activity (9%); burst of high-amplitude polyspikes (6%); burst suppression (4%); and delta brush (4%). Each pattern occurred across several pathologies, except for periodic spikes, only observed with mesial temporal sclerosis, and delta brush, exclusive to focal cortical dysplasia. However, mesial temporal sclerosis was not always associated with periodic spikes nor focal cortical dysplasia with delta brush. Compared to other patterns, low-voltage fast activity was associated with a larger seizure-onset zone (P = 0.04). Four patterns, sharp activity at ≤13 Hz, low-voltage fast activity, spike-and-wave activity and periodic spikes, were also found in regions of seizure spread, with periodic spikes only emerging from mesial temporal sclerosis. Each of the seven patterns was accompanied by a significant increase in high-frequency oscillations upon seizure-onset. Overall, our data indicate that: (i) biologically-distinct epileptogenic lesions share intracranial electroencephalographic seizure-onset patterns, suggesting that different pathological substrates can affect similarly networks or mechanisms underlying seizure generation; (ii) certain pathologies are associated with intracranial electroencephalographic signatures at seizure-onset, e.g. periodic spikes which may reflect mechanisms specific to mesial temporal sclerosis; (iii) some seizure-onset patterns, including periodic spikes, can also be found in regions of spread, which cautions against relying on the morphology of the initial discharge to define the epileptogenic zone; and (iv) high-frequency oscillations increase at seizure-onset, independently of the pattern.
Brain : a journal of neurology.Brain.2014 Jan;137(Pt 1):183-96. doi: 10.1093/brain/awt299. Epub 2013 Oct 30.
Because seizures originate from different pathological substrates, the question arises of whether distinct or similar mechanisms underlie seizure generation across different pathologies. Better defining intracranial electroencephalographic morphological patterns at seizure-onset could improve the un
PMID 24176980

An acardiac twin with advanced development of the brain: a histologic and volumetric study.

Yamaguchi K, Honma K.AbstractWe describe a rare case of an acardiac twin (acardius anceps) with advanced brain development. Complete serial sections of the brain were made for microscopic observation and volumetric analysis. The cerebral surface showed unusual gyri and sulci with absence of the right olfactory bulb. Cortical lamination was almost normal, except for the insula where polymicrogyria and leptomeningeal neuroglial heterotopia were seen. The latter was also observed in the basal forebrain. Partial agenesis of the corpus callosum was noted with a very thick left cingulate gyrus. The anterior commissure did not cross the midline. Subcortical structures including basal ganglia, diencephalon, and brainstem/cerebellum appeared grossly normal, but hypo- or dysplasic changes were observed in some regions. The ventricles were enlarged and the left internal carotid artery was absent. In addition, porencephalic foci were located in the right temporal and parietal lobes. On comparative volumetry, the total brain was normal, but brain structures showed variable volumetric changes, with higher volume in the ventricles, diencephalon, and archi-/paleopallium, and lower volume in the periventricular germinal layer, basal ganglia, cerebral cortex, and brainstem/cerebellum. These observations showed that brain development can proceed nearly normally in acardia if blood flow is relatively preserved.
Clinical neuropathology.Clin Neuropathol.2014 January/February;33(1):84-91.
We describe a rare case of an acardiac twin (acardius anceps) with advanced brain development. Complete serial sections of the brain were made for microscopic observation and volumetric analysis. The cerebral surface showed unusual gyri and sulci with absence of the right olfactory bulb. Cortical la
PMID 24040763

Japanese Journal

症例報告複数の発作周辺期精神症状を含む多彩な発作症状を呈した部分てんかんの1例

江面道典,柿坂庸介,神一敬 [他]
Brain and nerve : 神経研究の進歩 67(1), 105-109, 2015-01
NAID 40020328664

Successful Treatment of Epilepsy by Resection of Periventricular Nodular Heterotopia

Agari Takashi,Mihara Tadahiro,Baba Koichi,Kobayashi Katsuhiro,Usui Naotaka,Terada Kiyohito,Nakamura Fumihiro,Matsuda Kazumi,Date Isao
Acta Medica Okayama 66(6), 487-492, 2012-12
… We report on a case of successful surgical treatment of drug-resistant epilepsy associated with a solitary lesion of periventricular nodular heterotopia (PNH). …
NAID 120005082625

FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia

Kunishima Shinji,Ito-Yamamura Yoshimi,Hayakawa Akira [他],YAMAMOTO Toshimichi,SAITO Hidehiko
Journal of human genetics 55(12), 844-846, 2010-12-01
NAID 10030738152