1/5. Exceptionally long absence status: multifactorial etiology, drug interactions and complications.To our knowledge, petit mal status lasting longer than 2-3 days has been documented only once [1]. We report a 66 year-old man with well-documented, idiopathic generalized epilepsy who developed petit mal status lasting 6 weeks. Valproate levels remained low because of interactions with phenytoin. When phenytoin was discontinued, valproate levels increased, and he progressively improved. Chronic ischemic changes in the white matter may have been an additional factor in the causation and, most likely, in the duration of his status. Exceptionally long status and stupor increase the risk of medical complications. Valproate remains the medication of choice for the treatment of petit mal status. Despite the extraordinary course in this patient, complete recovery took place, confirming the benign nature of even such a prolonged episode.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/5. Benign paroxysmal tonic upgaze of childhood with ataxia.Paroxysmal tonic upgaze deviation (PTU) is a rare neuro-ophthalmological disorder with onset in infancy or early childhood. It consists of episodes of sustained, conjugate, upward deviation of the eyes, down beating saccades in attempted downgaze, apparently preserved horizontal eye movements, frequent association with mild ataxia or clumsiness at time of illness, normal metabolic, electroencephalographic and neuroradiological findings. Symptoms are frequently relieved by sleep and can be exacerbated by fatigue or illness. Although PTU generally tends to disappear spontaneously within a few months or years, subsequent case reports have demonstrated the heterogeneous nature of the syndrome with respect to outcome. To date, the pathogenesis of the condition is still unknown. We present a new case of PTU with ataxia occurring in an otherwise healthy child, as documented by video recording of the phenomenon.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/5. Schizencephaly: case report of familial incidence.Two half-siblings with schizencephaly are presented. They have the same mother who had a normal cerebral imaging study. Only one other kindred was found in which 2 siblings had this cerebral lesion. In the present patients, autosomal inheritance from the mother is possible, but other explanations should include familial, as well as genetic, factors. family counseling should stress the sporadic nature of this entity but a recurrence in the same sibship is possible. Details of the clinical and magnetic resonance imaging studies are presented.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/5. mosaicism for terminal deletion of 4q.Chromosomal imbalance affecting the long arm of chromosome 4 has been reported in a variety of distinct clinical conditions. Common clinical findings have been described for 4q deletions distal to 4q33 and termed as 4q terminal deletion syndrome. We report two children with de novo chromosomal abnormality consisting of a terminal deletion (q33qter) of chromosome 4 in mosaic form. The phenotypes of these two patients are very similar to that described in the literature, but milder because of the mosaic nature of cytogenetic abnormality.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/5. Hemitonic seizures: etiological and diagnostic considerations.Intermittent unilateral tonic posturing of the limbs may relate to focal motor epilepsy, intermittent dystonia or hysteria, and diagnosis may be difficult. Five patients are presented who illustrate two distinct hemitonic syndromes which we believe to be epileptic, namely forced elevation of one arm and paroxysmal hemispasm. It is suggested that these attacks follow an irritative lesion involving the supplementary motor cortex and a deep lesion involving striatothalamic projections respectively. Brevity of episodes, their stereotyped nature and rapid response to anticonvulsant drugs supports an epileptic etiology. The term paroxysmal hemidystonia may not be appropriate for patients with intermittent stereotyped disorders of limb posture, where the clinical features support an epileptic basis and we suggest the designation hemitonic seizures.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |