[A case of a girl with a ring chromosome 18 in the karyotype].
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Biomedical subjects
Publications and source records attributed to K Czerwińska-Ciechan.
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Explore the source record for details and available documents.
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The authors describe clinical and electroencephalographic analysis of 23 cases of banign infantile epilepsy. The characteristic features of seizures, the clinical course, and the EEG findings with presence of spikes and/or spikes and slow waves in leads from the motor and midtemporal areas are discussed. Frequent influence of factors releasing the first and subsequent seizures and a history of risk factors during pregnancy, and perinatal period, and early acquired predisposition were demonstrated. Follow-up showed that seizures disappeared at the age of puberty. All observations suggest the possibility of separation of benign infantile epilepsy as a particular form of this disease.
Sixty-five cases of status epilepticus in 51 children were analysed. In 8 cases permanent damage to the CNS resulted and 4 children died. The analysis indicates that the factors influencing the frequency of status epilepticus and CNS damage include: young age of children, infections and their type, withdrawal of antiepileptic medication and the time of beginning treatment of status epilepticus as well as the type of drugs used. In prevention of repeated seizures the authors suggest early administration of anticonvulsants with dehydrating drugs, antipyretics and anti-inflammatory agents. The authors suggest also increasing of the dosage of anticonvulsants in cases of enen common infections beginning in epileptic children.
The reported case was diagnosed in a girl aged 14, in whom the first signs developed at the age of 6, with progressive involvement of the cranial nerves IX, X, XI and XII, and V with VII. After ruling out other possible causes the diagnosis of the Fazio-Londe disease was established. Electromyographic examination confirming the diagnosis demonstrated also evidence of changes of neurogenic type in the muscles of upper extremities despite absence of demonstrable clinical abnormalities, which, as suggest the authors, may support the hypothesis of the similarity of the disease to other forms of spinal muscular atrophy, such as Werdnig-Hoffman and Kugelberg-Welander diseases.
A 22-year old patient with Jadassohn's naevus phacomatosis affecting the right side of the head, face and brain is reported. Besides naevus linearis on the forehead, lipomata of the right palpebra, skin and palate, 2 odontomata, hypodermal and submucosal hyperplasia of the right half of the oral cavity, a small aneurysm of the internal carotid artery in the cavernous sinus and linear calcification in the cortex of the medial surface of the occipital lobe like those in Sturge-Weber disease were found. Clinically, she was found to be mentally retarded (moderately) and having epilepsy. Epileptic attacks occurred up to the age of 13 years, while changes in EEG are still present.
The problem of acquired aphasia during epilepsy in children is discussed with reference to the correlations between aphasia, epileptic seizures and EEG changes as well as diagnostic difficulties and diagnosis.
A 17-year-old boy, right-handed, and without a family history of left-handedness is described. Occlusion of the right internal carotid artery caused in him left-sided hemiparesis with aphasia. The cross-aphasia of right-handed individuals is discussed in the light of literature reports.
The levels of sodium valproate were determined in the blood and saliva of children treated for epilepsy. The determination of drug in saliva may be a simple test checking whether the patient is taking the drugs systematically, and makes possible determination of the approximate level in the serum without blood sampling. In doubtful cases poorly responding to treatment serial monitoring of valproic acid should be undertaken.
24-hour monitoring of the treatment of three children with refractory epilepsy with valproic acid and phenobarbital was carried out. This made possible a detailed analysis of the variability of valproate level in the serum over 24 hours and no relation was found between the level of the drug and its dose. A rise of phenobarbital level was observed when it was given with valproic acid, and this was associated with a reduction of seizure activity in the EEG. In view of a high variability of the valproate level over 24 hours detailed monitoring refractory cases seems useful and indispensable sometimes.
A clinical description and pathological findings are reported in a case of extrameningeal, angiogenic malignant meningioma of the vertebral canal (Th7-Th11) in a patient aged 17 years. Clinical picture was that of transverse myelitis at the Th9 level, with spastic paraparesis, funicular loss of all sensory functions and sphincter disturbances. The authors suppose that the used combined treatment (chemotherapy and radiotherapy, surgery) improved greatly the health state inhibiting the spread of metastases and prolonged survival to 3 years. Autopsy demonstrated recurrence of he tumour in the vertebral canal and numerous metastases to the brain, lungs, liver, bones and pancreas.
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