Total callosotomy for a case of lissencephaly presenting with West syndrome and generalized seizures

Case report An 11-month-old girl had an onset of oculogyric crisis at 2 months and she presented with epileptic spasms and generalized tonic seizures with series formation at 3 months. Her seizures were medically intractable and her development had gradually regressed after that. MRI showed severe lissencephaly in bilateral hemispheres. Interictal EEG showed hypsarrhythmia periodically and sporadic spike waves in the right hemisphere. The generalized tonic seizures began with bi-frontal polyspikes on EEG. Our diagnosis was lissencephaly presenting with West syndrome and generalized tonic seizures. A total callosotomy was performed at 11 months.Outcome Postoperative frequency of seizures decreased prominently and developmental progression was resumed.Conclusions This case showed that the corpus callosum may play an important role in some types of symptomatic West syndrome. Corpus callosotomy for treating symptomatic West syndrome should be considered as an option after careful selection and consideration of the timing of surgery.     

Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG)

X-linked lissencephaly with abnormal genitalia (XLAG) is characterized by lissencephaly, absent corpus callosum and ambiguous genitalia. We examined hypothalamic dysfunctions in a XLAG case with a novel mutation of the ARX gene, and performed immunohistochemical evaluation of the diencephalons in autopsy brain. A 1-year-old boy showed intractable epilepsy, persistent diarrhea and disturbed temperature regulation. This case had abnormalities in circadian rhythms and pituitary hormone reserve test. He died of pneumonia. The globus pallidus and subthalamic nucleus was not identified, and the putamen and thalamus were dysplasic. The suprachiasmatic nucleus was absent. A few neurons immunoreactive for vasopressin seemed to form the ectopic supraoptic-like nucleus. The diencephalons were disturbed differently in each sub-region, and the changes may be related to various hypothalamic dysfunctions.     

The evolution of electroencephalographic features in lissencephaly syndrome.

The electroencephalographic features and their evolutional changes with age were described in three cases of lissencephaly syndrome diagnosed by CT scan. The case with more severe lissencephaly displayed very similar EEG findings. In early or middle infancy when infantile spasms began, EEG showed very high amplitude (more than 400 microV) slow waves mixed with sharp theta-waves. In their clinical course, they showed extreme spindles and in late infancy, the EEG revealed a tendency towards bilaterally synchronous discharges of high amplitude sharp and slow waves. On the other hand, milder forms of lissencephaly showed hypsarrhythmia in early infancy. In the late infancy the EEG showed bisynchronous sharp and slow waves of more than 200 microV. The anomaly ranging from agyria to pachygyria seems to be closely associated with varying EEG abnormalities from extremely high voltage hypsarrhythmia to focal spikes. The very high voltage of hypsarrhythmic patterns and the very low frequency of sharp wave discharges seem to be typical in the most severe lissencephaly or agyria     

A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease

Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation.     

Agyria (lissencephaly) with anomalous pyramidal crossing. Case report and review of literature

A case of agyria (lissencephaly) with a highly unusual course of the corticospinal tract at the crossing and in the spinal cord is described. Published cases of agyria (lissencephaly) are reviewed with special attention to the cortical fiber system and organization of the necortex, and their implications for possible pathogenetic mechanisms. The problem of nomenclature is discussed.     

A case of Miller-Dieker syndrome in a family with neurofibromatosis type I

The Miller-Dieker syndrome (type I lissencephaly) is a neuronal migration disorder which is associated with microdeletions in the short arm of chromosome 17. Neurofibromatosis type I (NF1) is an autosomal dominant condition associated with mutations in the long arm of chromosome 17, and characterised by neurofibromas, café-au-lait spots and axillary freckling. The neonatal period for a female infant born at 39 weeks gestation by emergency Caesarean section was complicated by frequent epileptic seizures as well as hypotonia. A computed tomography scan revealed evidence of lissencephaly, and chromosomal analysis showed a microdeletion on the short arm of chromosome 17 (17p13.3), confirming the diagnosis as Miller-Dieker syndrome. The child died at the age of 4 years and examination of the brain confirmed lissencephaly with a thickened cortex, deficient white matter, and grey matter heteropias. The mother had café-au-lait spots, and axillary freckling. In addition, the mother’s and maternal grandmother’s genetic analysis showed identical mutations in the neurofibromatosis I gene on the long arm of chromosome 17, confirming the diagnosis of NF1. The child did not possess the mutation. This case illustrates a rare neuronal migration disorder appearing in a child from a family with a history of NF1. Received: 15 April 1999 / Revised, accepted: 30 July 1999     

Ictal brain hemodynamics in the epileptic focus caused by a brain tumor using functional magnetic resonance imaging (fMRI)

Using functional magnetic resonance imaging (fMRI) we were able to observe, in detail, ictal brain hemodynamics during epileptic seizure caused by a brain tumor. A 53-year-old man was experencing partial motor seizures of the left side of his face and neck. In a brain MR image a mass lesion was found in the subcortical area of the right frontal lobe. We found focal spikes in his right hemisphere, though dominantly in C4 and T4 regions. fMRI investigations were carried out at 1.5 T (GE Signa Horizon) using gradient-echo echo-planar neuroimaging. We were able to perform the ictal examination twice. The activated regions were focalized and clearly found only on the lateral side of the tumor base. The region was in agreement with the epileptic focus examined using an electrocorticogram (ECOG). The signal intensity in the seizure focus rapidly increased 30 seconds before the convulsion was observed. After the end of the convulsion it also took 30 seconds to restore the signal intensity to the baseline value. fMRI is a very useful tool for various studies such as the identification of the epileptic focus, the mechanism of epileptic seizure, and so on.     

阻塞性呼吸睡眠暂停综合征与高血压并存患者脑血管功能状态的TCD初探

目的 研究分析阻塞性呼吸睡眠暂停综合征(OSAS)与高血压并存患者脑血管功能状态.方法 采用EME公司的COMPIONEⅡ型号经颅多普勒检查仪(TCD),对85例OSAS与高血压并存患者进行TCD检查,判断血管状态,采用屏气试验评价脑血管反应性,记录大脑中动脉(MCA)的平均血流速度(Vm)、搏动指数(PI),屏气指数(BHI)并与对照组比较,进行统计学分析.结果 两组间血管异常情况经χ~2检验,χ~2=4.1,P<0.05,差异有统计学意义.两组间的Vm经配对t检验,t=1.80,P>0.05差异无统计学意义.两组间的PI经配对t检验,t=1.62,P>0.05,差异无统计学意义.两组间BHI经配对t检验,t=4.75,P<0.01,差异有统计学意义.结论 OS-AS与高血压并存患者的脑血管功能状态与对照组比较脑血管反应性较差,更易发生动脉硬化,形成管腔狭窄.     

30例睡眠呼吸暂停综合征临床分析

目的：了解睡眠呼吸暂停综合征（SAS）患者的常见临床症状和白天主观困倦程度。方法：采用SAS8项症状问卷，Epworth量表对30例SAS患者和28例正常对照者进行调查。结果：病例组以睡眠时打鼾，夜间憋醒易醒白天打瞌睡等症状较常见，病例组白天主观困倦程度显著高于对照组。结论：SAS患者白天主观困倦程度较高，需要进行适当的医学干预。     

Response of polygraphic sleep to phenytoin treatment for epilepsy. A longitudinal study of immediate, short- and long-term effects

Report on a prospective longitudinal study of alterations in polygraphic sleep by phenytoin monotherapy for epilepsy. A first dose of 100mg already caused abbreviation of sleep latency and an increase of slow-wave sleep in the first NREM-REM cycle. In the course of adjustments to steady state, an increase of Stage 3 + 4 sleep in the later REM cycles developed, such that the percentage of slow-wave sleep for the whole night was also augmented, whereas the percentage of light sleep decreased. Sleep structure was affected particularly in the third NREM-REM cycle. With continuing therapy, however, these effects were reversed. The only permanent effect was an abbreviated sleep latency. There were only minimal differences in the response of generalized and of localization-related epilepsies. Serum drug levels had only a very limited influence, seizure control and length of follow-up had no influence on the results. As a collateral finding, a delayed further decrease of epileptic discharges during sleep was observed under long-term conditions in patients who were seizure-free and had been so since adjustment to the steady state.     

Unattended sleep study in screening for sleep apnea in the acute phase of ischemic stroke

ObjectivesWe aimed to compare the feasibility of automatically and manually scored cardiorespiratory polygraphy results for sleep apnea screening in the acute phase of ischemic stroke.MethodsProspective study included 204 ischemic stroke patients, who underwent nocturnal unattended portable monitoring with three-channel device during 48 h after onset of stroke symptoms. Sleep apnea diagnosis was determined as a respiratory event index (REI) ≥5/hour.ResultsThe mean age of the patients was 67.7 years and 62.7% were males. Automatic scoring identified sleep apnea in 148/72.5% and manual scoring in 186/91.2% of patients, showing moderate agreement (Kappa value 0.407). Of the cohort, 39 (19.1%) patients fulfilled the criteria for diagnosis of central sleep apnea (CSA) (>50% of events central) and 165 (80.9%) had obstructive sleep apnea (OSA). Automatic scoring identified poorly the type of events, and missed 18.6% of recordings. Oxygen desaturation 4% index (ODI4), interclass correlation coefficient (ICC) value 0.993, (95% CI 0.990–0.994), lowest saturation (ICC value 0.989, 95% CI 0.985–0.991) and percent of time spent <90% (ICC value 0.987, 95% CI 0.982–0.990) showed excellent agreement. Interclass correlation value for REI was 0.869 (95% CI 0.828 to 0.901) and ICC value 0.848 (95% CI 0.800 to 0.885) for obstructive apnea index, both indicating good agreement. Automatic scoring underestimated the severity of sleep apnea.ConclusionsBoth automatically and manually scored results recognized sleep apnea, albeit manual scoring identified more sleep apnea. Sleep apnea diagnosis agreement was moderate. Underestimation of the severity of sleep apnea by automatic scoring may result in undertreatment of sleep apnea.Clinical trial registrationURL:http://www.clinicaltrials.cov. Unique identifier: NCT01861275.     

Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification

Purpose

To investigate the genetic and clinical features of a Chinese family exhibiting an autosomal dominant inheritance pattern of lissencephaly.

Obstructive sleep apnea in psychiatric outpatients. A clinic-based study

Psychiatric diseases and symptoms are common among patients with obstructive sleep apnea (OSA). However, only a few studies have examined OSA in psychiatric patients. At the outpatient clinic of the Uusikaupunki Psychiatric Hospital, Finland, we used a low referral threshold to a diagnostic sleep study. An ambulatory cardiorespiratory polygraphy was performed in 114 of 221 patients. 95 patients were referred by the psychiatric clinic and 19 were examined in other clinical settings. We reviewed the medical files and retrospectively assessed the prevalence of OSA and the effect of gender, age, obesity, hypertension, type 2 diabetes, alcohol abuse, and symptoms suggesting OSA. 58 of the 221 patients (26.2%), 30 of 85 men (35.3%) and 28 of 136 women (20.6%), had OSA as determined by an apnea–hypopnea index (AHI) of 5/h or more. 20 patients (12 men and 8 women) had moderate or severe OSA (AHI ≥ 15/h). 46 patients (including 11 patients with moderate or severe OSA) were identified in the psychiatric clinic. In univariate analysis, a high body mass index, male gender, hypertension, snoring, and a history of witnessed apneas during sleep were associated with the presence of OSA. In multivariate analysis, a history of witnessed apneas did not remain significant. Age, type 2 diabetes, alcohol abuse, excessive daytime sleepiness (EDS), and fatigue did not associate with the presence of OSA. Our findings suggest that in psychiatric outpatients OSA is common but underdiagnosed. Presentation is often atypical, since many patients with OSA do not report witnessed apneas or EDS.     

Epileptic laughter: Electroclinical and cinefilm report of a case

Summary A woman, aged 30, experienced attacks of pathological laughter which began during the first months of life; they meet the qualifying criteria of epileptic laughter. Several attacks were recorded by polygraphy and cinefilm. The attack begins with a feeling of unreality associated with a forced, involuntary smile progressing to full laughter. The patient tried to mask the laughter which was not accompanied by euphoria but was followed by loss of consciousness and automatisms. Only during the latter phase of the previously normal EEG did an ictal discharge appear over the right hemisphere. On the basis of the electroclinical pattern and of a review of the literature, the seizure is tentatively explained in terms of a progressive ictal involvement of temporodiencephalic structures.

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Zusammenfassung Es wird der Fall einer dreißigjährigen Frau dargestellt, die seit ihren ersten Lebensmonaten an pathologischen Lachanfällen litt, die die charakteristischen Züge epileptischer Lachanfälle angenommen hatten. Verschiedene Anfälle wurden durch polygraphische Aufzeichnung und durch Filmen festgehalten. Die Anfälle begannen mit einem Unwirklichkeitsgefühl, verbunden mit einem gezwungenen, unwillkürlichen Lächeln, welches in eine volles Lachen überging. Die Patientin versuchte das Lachen, welches nicht mit euphorischer Stimmung verbunden war, zu maskieren. Dem Lachanfall folgten Bewußtseinsverlust und Automatismen. Das EEG, zu Beginn normal, zeigte in der späteren Phase eine anfallsartige Entladung in der rechten Hemisphäre. Aufgrund der elektroklinischen Eigenschaften und nach Durchsicht der Literatur wird der Anfall versuchsweise als ein fortschreitendes anfallsartiges Einbeziehen temporaler-dienzephaler Strukturen erklärt.