Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy

Kabuki make-up syndrome is a mental retardation-malformation syndrome affecting multiple organ systems, with a broad spectrum of neuromuscular dysfunction and mental ability. The incidence of seizures associated with this syndrome ranges from 10 to 40%. However, details of the seizures in this syndrome have not been adequately reported or thoroughly evaluated. In this study, we analyzed seizure characteristics and clinical outcomes in nine patients with Kabuki make-up syndrome. Four patients had generalized seizures and two patients had complex partial seizures, extended to secondary generalized seizures. West's syndrome, complex partial seizure, and atonic seizure were seen in one case each, respectively. Electroencephalograms showed focal spikes in seven cases, diffuse spike and wave burst in one case, and hypsarrhythmia in one case. Seizures were well controlled in eight cases and incompletely controlled in only one case. Together with mental retardation, epilepsy can be a primary feature of Kabuki make-up syndrome. Epilepsy associated with Kabuki make-up syndrome is mainly localization-related epilepsy with a favorable seizure outcome.     

MPPH syndrome: two new cases

This report describes 2 additional cases of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, a recently recognized disorder of infants and young children with macrocrania, developmental delay/mental retardation, and often epilepsy. Medulloblastoma, a previously unreported feature in megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, developed in one child at 3 years of age. Although the disorder is presumed to be genetic, the cause of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome has not yet been determined.     

Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome

Kabuki syndrome is a rare dysmorphic disorder characterized by peculiar facial appearance, developmental delay, skeletal abnormalities, mental retardation, and dermatoglyphic abnormalities. Neurologic anomalies are frequently observed. This report presents a 2-year-old male with Kabuki syndrome who had a quadrigeminal cistern arachnoid cyst: the second case of such an association to be reported in the literature.     

Focal polymicrogyria,continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report

Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feet, low growth parameters, neutropenia and chorioretinal dystrophy. Here, we report an 18-year-old male with Cohen syndrome associated with focal polymicrogyria and continuous spike-and-wave discharges during slow-wave sleep.     

A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia

Kabuki syndrome is a rare multiple anomaly syndrome characterized by a peculiar face, skeletal and dermatoglyphic anomalies, postnatal growth retardation and mental retardation. We report a case of Kabuki syndrome with unilateral perisylvian cortical dysplasia. This two-year old boy was referred to our hospital at 3-months of age for his growth retardation and muscle hypotonia. Because of his peculiar face, brachydactyly V and fingertip pad, we diagnosed him as having Kabuki syndrome. His MRI revealed cortical dysplasia along the left sylvian fissure. However, neither epileptic seizures nor epileptiform discharges on electroencephalogram were observed. Cortical dysplasia is a relatively rare brain malformation among the central nervous system anomalies accompanying with this syndrome. We have to take into consideration the likely onset of epilepsy in this patient because it is one of the most frequent neurological consequences of cortical dysplasia.     

Congenital bilateral perisylvian syndrome associated with congenital constriction band syndrome

We report a 7-year-old boy with congenital bilateral perisylvian syndrome and congenital constriction band syndrome. The former is a congenital neurologic syndrome characterized by pseudobulbar palsy, mental retardation, epilepsy, and bilateral perisylvian polymicrogyria The latter is a malformative disorder with digital ring constrictions and amputations, probably caused by early amnion rupture resulting in entanglement of fetal parts by amniotic strands. We believe that the combination of these two malfornative disorders was not coincidental; instead, fetal circulatory disturbance related to chronic abruptio placentae could account for this combination.     

Kabuki make-up (Niikawa-Kur oki) syndrome: cognitive abilities and autistic features

Kabuki make-up syndrome (KMS), also known as Niikawa-Kuroki syndrome, is a rare malformation complex characterized by a peculiar facies with long palpebral fissures and partially everted lower eyelid, mental retardation, dwarfism, and skeletal and dermatoglyphic abnormalities/ Four children from different ethnic groups presented with phenotypic manifestation of KMS. They showed variable degrees of learning disabilities, mental retardation, and autistic behavior. Two boys declined in IQ in early adolescence. In addition to being aware of the variable presentation of cognitive and behavioral characteristics in those already diagnosed, it is important to consider KMS when assessing dysmorphic children with learning disabilities and/or autism.     

Kabuki make-up syndrome and report of a case with hydrocephalus

We report a 22-year-old man with hydrocephalus caused by aqueductal stenosis. The patient was diagnosed with Kabuki make-up syndrome based on associated findings such as a peculiar facies, postnatal growth deficiency, brachydactyly of the fifth fingers, undescended testes, and malrotation of the colon. Kabuki make-up syndrome, recognized in Japan in 1981, is characterized by five cardinal manifestations: a peculiar facies, skeletal anomalies, dermatoglyphic anomalies, slight to moderate mental retardation, and postnatal dwarfism. Neurological anomalies have been reported to include neonatal hypotonia, feeding problems, seizures, West syndrome, microcephaly, brain atrophy, GH deficiency, precocious puberty, delayed sexual development, and diabetes insipidus. Aqueductal stenosis may be caused by part of the series of midline anomalies. Physicians should pay attention to associated anomalous characteristics suggesting a malformation syndrome when they encounter nontumoral aqueductal stenosis in adolescents or adults. Received: 15 April 1997 Revised: 13 January 1998     

Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome

Kabuki syndrome is a dysmorphogenic syndrome which has been reported in over 300 patients since it was first described in Japan in 1981. In addition to its cardinal features (typical facies, mild-to-moderate learning disability, short stature, skeletal anomalies, and dermatoglyphic abnormalities with persistent foetal fingerpads), neurological anomalies are frequently reported, including epilepsy in 8% of those with the syndrome. We present here a 22-year-old white female patient with refractory partial epilepsy, Kabuki syndrome, and bilateral perisylvian polymicrogyria on MRI: the first reported case of this association. The aetiology of the syndrome, including the diverse genetic changes recognized, is then discussed.     

Dyke-Davidoff-Masson syndrome: a report of two cases

Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis and mental retardation. We report the clinical and imaging features in two patients with epilepsy revealing a Dyke-Davidoff-Masson syndrome. Brain MRI showed unilateral loss of cerebral volume with hypertrophy and hyperpneumatization of the paranasal sinuses and mastoid cells. Ipsilateral fronto-parietal polymicrogyria was present in one patient.     

Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies

We report an infant boy with an apparently new malformation syndrome. The major anomalies showed by the patient include diffuse polymicrogyria, congenital hydrocephalus, craniosynostosis with severe scaphocephaly, severe mental retardation, intractable epilepsy, and minor facial and genital anomalies. Our review of the literature and two computerized dysmorphology databases found some papers reporting polymicrogyria or lissencephaly associated with craniosynostosis or hydrocephalus. None of the reported patients had a phenotype similar to that of our patient.     

Three patients with severe bilateral frontoparietal polymicrogyria

The bilateral frontoparietal polymicrogyria syndrome is characterized anatomically by predominantly frontoparietal diffuse polymicrogyria and clinically by generalized tonic-clonic seizures and mental retardation developing in early childhood. Despite the diffuse nature of the cortical involvement, patients do gain the ability to speak and to walk. In addition, epilepsy can be relatively well controlled with antiepileptic drugs. In three cases of bilateral frontoparietal polymicrogyria, the patients demonstrated consistently similar clinical and neuroimaging characteristics, with more severe structural and developmental abnormalities than those reported previously. The designation proposed here recognizes such cases as a severe form of bilateral frontoparietal polymicrogyria. An ethnic difference or a causal gene other than GPR56 might be responsible for the difference in severity between the classical and the more severe forms of bilateral frontoparietal polymicrogyria.     

A case of Kabuki syndrome presenting West syndrome

A 6-month-old girl visited our hospital because of mental retardation, regression, and tonic spasms in cluster. We diagnosed her as West syndrome because of hypsarrhythmia on electroencephalogram (EEG) and tonic spasms in cluster. We also diagnosed her as Kabuki syndrome because of multiple malformations, especially a characteristic peculiar face (resembling a Kabuki actor). She was first administered clonazepam, but this was not effective. Later, she was administered vitamin B6, valproic acid, and zonisamide. Zonisamide was effective, and her tonic spasms were suppressed. Her EEG at 9 months of age showed the disappearance of hypsarrhythmia and sporadic spike and wave complexes on P3, P4, O1, and O2. At 2 years of age, she still showed mental retardation, despite the good control of West syndrome. To the best of our knowledge, Kabuki syndrome presenting West syndrome has been reported in only one previous case. We must pay attention to the occurrence of West syndrome in Kabuki syndrome.     

Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients

Diffuse neuronal migration disorders associated with epilepsy can now be recognized by modern neuroimaging techniques, particularly high-resolution MRI. We report 10 patients with a recently described MRI picture of continuous or generalized band heterotopia underlying the cortical mantle, giving the appearance of a "double cortex." They have epilepsy, and almost all have mental retardation. The epileptic disorder varies in nature and degree of severity. Patients may present with infantile spasms, a Lennox-Gastaut syndrome, or other forms of secondary generalized or multifocal epilepsy. Response to medical treatment is variable. Callosotomy may lead to considerable reduction of drop attacks, present in 60%. Mental retardation is usually mild or moderate, and only rarely severe. It correlates with the type of epileptic syndrome, and is greater in patients with more disorganized cortex overlying the heterotopia. Recognition of this entity by MRI is important for appropriate diagnosis of the epileptic disorder, planning of therapeutic strategy, and prognosis.     

Double cortex syndrome: Electroclinical study of three cases

We describe three female patients (aged 10, 11 and 21 years) with a Magnetic Resonance appearance of band heterotopia, a diffuse neuronal migration disorder, also known as double cortex syndrome. The clinical picture was characterized by the association of epilepsy and mental retardation in all three cases, as has been previously described in patients with double cortex syndrome. The epileptic syndrome (Lennox-Gastaut syndrome in one case, and symptomatic partial epilepsy in the other two), the response to medical treatment, and the severity of mental retardation were markedly different in the three patients. No clear-cut relationship was found between the clinical picture and the severity of the neuronal migration disorder, as revealed by magnetic resonance imaging. In the three cases, EEG shares some common features: multifocal epileptic activity with frequent bilateral diffusion, and highamplitude anterior fast activity, intermingled in two patients with bursts of repetitive spikes. The study was partially supported by grants from the Paolo Zorzi Foundation for the Neurosciences, from the Mariani Foundation Paediatric Neurology and the Italian Ministry of Health.     

脆性X综合征与癫痫

脆性X综合征(fragile X syndrome,FXS)是一种最常见的遗传性智力障碍.这种智力障碍疾病主要是由于脆性X智力低下蛋白(fragile X mental retardation protein,FMRP)的缺失引起.FMRP是一种RNA结合蛋白,通过调节与其结合的信使RNA的翻译而调节神经元内的信号传导.很多FXS病人表现出较高的癫痫发作易感性.癫痫是一种慢性神经系统疾病.它的主要症状是反复的癫痫发作.癫痫发作是由大脑神经元的异常高兴奋性和同步放电引起的.FMEP缺失引起的神经元形态异常和神经元内信号传导的异常均可导致癫痫发作.本文结合在FXS和癫痫病两方面上取得研究结果综合分析,探讨FXS病人癫痫高易感性的发病机理,并对其他智力障碍疾病中的癫痫高易感性的机制的研究做一展望.     

Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome

Kabuki syndrome is a rare dysmorphogenic disorder. The central nervous system is often involved, and epilepsy is a common symptom. The diagnosis is clinical, and no typical electroencephalographic findings have thus far been reported. We have documented temporo-occipital spikes in sleep electroencephalogram in all our three Kabuki patients. The location of the spikes was similar in all cases although their occurrence varied from continuous spiking to single spikes. We suggest that temporo-occipital spikes are typical in Kabuki syndrome and discuss the possible cause of this finding.     

Catastrophic Epilepsy in Childhood

Summary: Although for most children epilepsy is a relatively benign disorder, for some, epilepsy can be designated as "catastrophic" because the seizures are so difficult to control and because they are strongly associated with mental retardation. The catastrophic childhood epilepsies include uncommon disorders such as early infantile epileptic encephalopathy with suppression burst, severe myoclonic epilepsy of infancy, and epilepsy with myoclonic-astatic seizures. There are other syndromes that are relatively common such as infantile spasms, Lennox-Gastaut syndrome, and Sturge-Weber syndrome. Many children with catastrophic epilepsy have the seizures as a result of underlying brain abnormalities that will inevitably lead to mental retardation whether or not they have seizures. In some patients, however, the mental retardation appears to be caused by the seizures. Developmental plasticity provides children with an opportunity to recover from significant brain injuries. However, the plasticity may also be the cause of the mental retardation. In such patients, control of the seizures may lead to more normal intellectual development. Thus, every effort should be made to control seizures in children with catastrophic epilepsy.     

Autism in Dravet syndrome: prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation

Autism is a pervasive developmental disorder that frequently co-occurs with epilepsy. Dravet syndrome is a severe epileptic encephalopathy associated with psychomotor developmental delay. Autism in Dravet syndrome, however, has rarely been studied. In this study, the prevalence and features of autism in patients with Dravet syndrome, their potential association with mental retardation, and the clinical characteristics of epilepsy were investigated. Clinical data of 37 patients with Dravet syndrome were collected, and evaluations of autism and mental retardation were performed. Nine patients (24.3%) met the criteria for autism. All patients with autism showed speech delay, no emotional reciprocity, and narrow interests, whereas 89.3, 46.4, and 39.9% of patients without autism had speech delay, short temper, and narrow interests, respectively. Mental retardation was observed in 94.6% of patients with Dravet syndrome, with more frequent severe or profound mental retardation in those with autism. The clinical features of epilepsy did not statistically differ between the patients with autism and the patients without autism.     

RUD SYNDROME REVISITED: ICHTHYOSIS, MENTAL RETARDATION, EPILEPSY AND HYPOGONADISM

Rud syndrome is a rare disorder of childhood characterized by ichthyosis, mental retardation, epilepsy and hypogonadism. The authors report a family with this autosomal recessive disorder, review the clinical and dermatopathological findings, and contrast Rud syndrome with the other major neuro-ichthyosiform dermatoses.