Objective: Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation.
Methods: We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.
Introduction: Neuroimaging and experimental studies have related cytomegalovirus (CMV) to certain neuronal migration disorders.
Material And Methods: To define the electroclinical picture of children with epilepsy associated with disorders of cortical development (DCD) and congenital CMV infection, we conducted a clinical, electroencephalographic and neuroradiological study of 10 children with this condition.
Results: Eighty per cent of them had dismorphic traits, or malformations outside CNS.
Epilepsia partialis continua (EPC) has previously been reported in only two patients with Leigh syndrome (LS). We report here a subject in whom LS and partial deficit of cytochrome c oxidase (COX) were associated with EPC. Epilepsy in this subject appeared when neurologic impairment was clearly evident and MRI showed cortical lesions typically associated with congenital lactic acidosis.
View Article and Find Full Text PDFWe report an electroclinical and cytogenetic study of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed spike becoming unusual spike-wave complexes, often elicited by eye closure; burst of diffuse spikes and waves; and frequent jerks.
View Article and Find Full Text PDFThere are few reports in the literature dealing with the association between mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and epilepsia partialis continua (EPC) in children. We report the case of a child presenting with numerous stroke-like episodes associated with EPC which, despite therapy, were not controlled and aggravated the clinical condition of our patient. We present the neuroradiological, biochemical, genetic and muscle biopsy findings, and EEG characteristics, with attention to polygraphic recordings which were done during wake and sleep periods.
View Article and Find Full Text PDFEEG during wakefulness and sleep and somatosensory evoked potentials from the median nerve were recorded in a 3 year-old boy with hyperekplexia and his close relatives (parents and two sisters). Centro-temporal spikes during sleep were found in the patient and in the older sister, while somatosensory evoked potentials, in the patient, showed abnormally high amplitude over the centroparietal regions. Pathophysiological mechanisms of hyperekplexia are discussed and the existence of symptomatic forms is suggested.
View Article and Find Full Text PDFA case is reported of an infant affected with Sturge-Weber disease who underwent left hemispherectomy due to untreatable seizures when 97 days old. Pathological analysis of the surgical specimens revealed the presence of four-layered microgyric cortex below the angiomatosis, intense gliosis, and the presence of calcifications of both the abnormal cortex and the underlying white matter. These findings suggest that the early infantile form of Sturge-Weber disease is associated with a developmental disorder of the cortical organization.
View Article and Find Full Text PDFWe describe polygraphic respiratory alterations during sleep in a child with neurofibromatosis. The patient, a four-year-old boy, had a medical history of neurofibromatosis and recurrent acute respiratory failure responsive to mechanical ventilation. All-night polysomnography showed severe nocturnal hypoventilation with marked hypercapnia (TcPaCO2 70 mmHg) and hypoxemia (SaO2 less than 40%).
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
August 1993
Twenty patients affected by bilateral occipital cortical-subcortical calcification (BOC) are described, 19 (95%) had epilepsy. In 8 of 16 cases studied, intestinal biopsy revealed coeliac disease. Fourteen patients had occipital partial epilepsy with a relatively benign outcome, while 4 patients were affected by a severe form of epilepsy, with very frequent, drug-resistant, generalised and partial seizures with mental deterioration.
View Article and Find Full Text PDFThis paper reports on the clinical, neurophysiological and neuroradiological characteristics of a patient with Down syndrome unusually associated with tuberous sclerosis. In particular, epilepsy is investigated in detail and its polygraphic study and etiopathological factors are discussed. The most interesting findings are those related to the presence of a structural abnormality of the rolandic-parietal cortex, bilaterally, in the form of pachygyria.
View Article and Find Full Text PDFThe authors report a seven-month-old boy with severe hypotonia, poor spontaneous movements, breathing difficulties and recurrent respiratory infections, dysmorphisms and a peculiar movement disorder: minipolymyoclonus (MPM), previously reported only in spinal muscular atrophies. MPM is characterized by nonrhythmic myoclonic jerks associated with a rhythmic tremor of the extended fingers polygraphically detected. A muscle biopsy showed pathological changes typical of congenital nemaline myopathy (CNM).
View Article and Find Full Text PDFThe authors report the case of a girl with achondroplasia suffering from a progressively worsening hypotonic quadriparesis. CT scan showed slight dilatation of ventricular and subarachnoid spaces, with well-defined evidence of cortical sulci and gyri. This aspect was compatible with the diagnosis of macrocrania and megalencephaly (CP being 51 cm).
View Article and Find Full Text PDFWe report the fourth case of partial status epilepticus (SE) in benign epilepsy of childhood with rolandic spikes (BECRS). The child suffered long-lasting attacks involving the mouth and pharynx, clinically manifest as speech arrest, sialorrhea, and drooling. Both clinical and electroencephalogram (EEG) data were compatible with the diagnosis of BECRS.
View Article and Find Full Text PDFEpilepsy Res Suppl
February 1992
The electroclinical picture and nosological limits of benign partial epilepsy of childhood with rolandic spikes (BERS) have been better defined by nocturnal sleep records. In all stages of sleep, there is a significant increase in frequency and amplitude of rolandic spikes (RS) without change of their morphology. Another interesting observation is the appearance of independent spike foci in sleep, or brief subclinical spike wave discharges which are limited to the state of drowsiness.
View Article and Find Full Text PDFA 14-year-old boy, suffering from acute lymphoblastic leukemia with meningeal involvement, was treated with intraventricular methotrexate and cytosine arabinoside, administered via an Ommaya reservoir (OR). Three months later, right occipital headache, vomiting, and lethargy appeared. Cerebrospinal fluid specimens showed increased proteins and a right frontal slow-wave focus was evident on the EEG recording.
View Article and Find Full Text PDFA 7-year-old boy suffering from X-linked hypogammaglobulinemia and progressive myoclonic encephalopathy is reported. The onset of neurological disturbances is at four years of age with ataxic gait and myoclonic jerks. The EEG shows a progressive slowing of background activity, bilateral diffuse and repetitive, pseudoperiodic, high amplitude slow waves, myoclonic jerks polygraphically documented.
View Article and Find Full Text PDFA case of an infant suffering from progressive lethargy, sparse scalp hair, autistic-like behavior, myoclonias, and drug-resistant generalized seizures is reported. Laboratory investigations revealed, in the absence of metabolic acidosis, an increased urinary excretion of 2-ketoglutaric acid and a small peak of 3-hydroxyisovaleric acid. The serum biotinidase activity was 0.
View Article and Find Full Text PDFThe authors described a case of an immunosuppressed child with acute measles encephalitis of the delayed type (AMED). The authors also discussed the relationship between the AMED, epilepsia partialis continua and the neuroradiological picture, in which bilateral putaminal lucency was evident.
View Article and Find Full Text PDFNeurophysiol Clin
December 1988
The authors report two cases of children suffering from Epilepsia Partialis Continua (EPC). The first case concerned a boy primarily affected by abdominal neuroblastoma and secondarily by bilateral EPC; "pallidal posture" was the prominent clinical feature. An acute measles encephalitis was diagnosed and the CT scan showed necrosis of the putamina.
View Article and Find Full Text PDFThe authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral calcifications.
View Article and Find Full Text PDFThree severely asphyxiated full-term newborns showed tomographic findings of bilateral symmetrical hyperdensities restricted to the thalamic region. All these patients had a strikingly similar poor neurological outcome characterized by dystonia, severe mental retardation and acquired microcephaly. We presume that these bithalamic hyperdensities could be an early predictor of the later status marmoratus.
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