Cases reported "Epilepsy, Tonic-Clonic"

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1/10. A behavior analysis approach to high-rate myoclonic seizures.

    epilepsy represents a serious medical and social problem. In the majority of cases, seizures are successfully managed by a variety of anticonvulsant medications, even though these drugs may potentiate significant physical and developmental side effects. A small group of studies to date have offered evidence that behavioral procedures can successfully manage some seizure disorders and are particularly desirable treatment choices when seizure disorders are intractable to drug management or when drug side effects are to be avoided. The present case adds to this small but growing group of studies in that it demonstrates the use of behavioral procedures in the analysis and treatment of high-rate myoclonic seizures. seizures were evaluated on a hospital ward and in a controlled experimental setting. The data indicated a variable rate of seizures across days and activities and a reduction of seizure frequency in the controlled setting when time-out was made contingent on seizures. A program of contingent rest' was then applied on the hospital ward that demonstrated a reduction in myoclonic seizure frequency and the apparent prevention of several grand mal episodes. An observer calibration procedure showed high correspondence between behaviorally and physiologically recorded seizures. A discussion of issues in behavioral medicine research follows.
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2/10. Intoxication by cholinesterase inhibitors versus opioid intoxication.

    A 47 y-old male shopkeeper from a rural area ingested an unknown substance while under the effects of ethylic alcohol. He was admitted at the University Hospital of the Andes in generally poor condition with a cholinergic syndrome. An erroneous diagnosis of acute pulmonary edema and opioid intoxication was reached. The value of a patient's history (background) and careful evaluation of the physical examination findings without underestimating critical clinical signs are very important when handling a clinical intoxication.
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3/10. Grand mal convulsion after an accidental intravenous injection of ropivacaine.

    A 36-yr old, ASA physical status I patient scheduled for hip arthroplasty under regional anesthesia received at the end of surgery an i.v. injection of approximately 200 mL of a 0.15% ropivacaine solution (300 mg = 4.6 mg/kg) in approximately 5 min. The bag prepared for postoperative epidural infusion was accidentally connected to a peripheral i.v. line. The patient developed grand mal convulsions, hypotension, and respiratory arrest. No arrhythmias were observed. Twenty minutes after the event, the arterial plasma concentration of ropivacaine was 3.10 microg/mL. Using a pharmacokinetic model, the peak plasma concentration at the time of the accidental administration was estimated at 17.04 microg/mL. The patient recovered uneventfully. IMPLICATIONS: An accidental i.v. injection of approximately 300 mg of ropivacaine was followed by seizures without any arrhythmia. The patient recovered uneventfully.
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4/10. trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).

    Partial trisomies of the short arm of chromosome 5 are uncommon. The first description was made by Lejeune et al., in 1964. It has been suggested that the critical region for 5p trisomy syndrome lies between 5p10 and 5p13. We report on a Mexican girl who developed severe mental retardation and generalized tonic clonic seizures at age 1 year. On physical examination at age 5 years, she had macrodolichocephaly, upslanted palpebral fissures, bilateral inner epicanthic folds, low nasal root, and malformed ears with posterior rotation which are clinical characteristics of 5p trisomy syndrome. The cytogenetic study with G bands and FISH with painting for chromosome 5 and with the cri-du-chat 5p15 unique sequence probe showed a duplication and inversion of 5p [46,XX, dup(5)(p15.3 p13.3)] which overlaps with the critical region for 5p trisomy syndrome. Our patient shares clinical characteristics with the patients described in the literature with involvement of this critical region. Both parents have normal karyotypes indicating the rearrangement is de novo. Only one patient has been reported in the literature with the same cytogenetic rearrangement as our patient, but this patient had a different phenotype. Since they only performed conventional cytogenetics and we performed FISH to confirm the diagnosis, the differences in the phenotypes could be explained by the presence of other genes involved in the rearrangement. The combined use of conventional and molecular cytogenetics in this case allows a more precise diagnosis and furthers knowledge in phenotype/genotype correlation.
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5/10. risperidone-induced psychosis and depression in a child with a mitochondrial disorder.

    OBJECTIVE: To our knowledge, this is the first published case report of an adolescent girl with a mitochondrial disorder and depression who displayed both new-onset psychotic and increased mood symptoms during treatment with risperidone. DATA: A 16-year-old girl was treated with risperidone for mood lability and impulsivity at a community hospital. Within days, she developed paranoid ideation, profound psychomotor retardation, increased depression, and fatigue. She was transferred to an inpatient psychiatric hospital, where she was taken off risperidone. Within 48 hours after discontinuation of the medication, she had complete resolution of psychotic symptoms, fatigue, and psychomotor retardation, and her depression improved. CONCLUSIONS: This observation of "on-off" risperidone treatment suggests that risperidone may have worsened both psychiatric and physical manifestations of the mitochondrial disorder in this adolescent. These findings are consistent with recent in vitro literature, which implicate a series of neuroleptic medications with mitochondrial dysfunction. Furthermore, the authors provide diagnostic and treatment options that are available for mitochondrial disorders, which are of interest to child psychiatrists due to the central nervous system manifestations of these disorders.
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keywords = physical
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6/10. Two sisters with rett syndrome.

    We present the clinical histories and physical findings of two sisters with Rett syndrome. The physical examination, combined with a review of their medical charts, revealed that both patients met the necessary criteria for the diagnosis of rett syndrome as defined by the rett syndrome diagnostic criteria work group. The older sister, currently 25 years of age, is typically affected, whereas the younger sister, currently 22 years of age, is affected with a seizure disorder showing an unusually early onset.
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7/10. Hyperdensity on CT after seizure: a pitfall.

    A 12-year-old boy had a hyperdense area corresponding to a gyral pattern on an enhanced CT brain scan within 12 hours of his last seizure. The hyperdense area disappeared on a subsequent enhanced CT scan after he was seizure free for about 48 hours. The hyperdense area was in a location (mesial frontal lobe) predicted by the interictal physical exam findings and the seizure type recorded on video-EEG monitoring. We postulate that the CT abnormality was due to transitory increase of regional cerebral blood flow and vascular permeability.
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8/10. trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression.

    We report two brothers and two second cousins with 4p trisomy secondary to a familial translocation t(4;7) (p12;q36). A comparison of their physical features demonstrates the variability of clinical manifestations associated with this chromosome abnormality. While previous authors have emphasized the distinctiveness of the 4p trisomy syndrome, the variability seen in the affected relatives in this family suggests that trisomy 4p is one of the less distinctive chromosomal syndromes. Further comparison of our patients with the previously reported cases of 4p trisomy and with two cases whose chromosomal breakpoints were similar confirms this variability. Studies of phenotype/karyotype correlations in affected relatives provides the best opportunity to determine the phenotypic consequences of a specific (that is, identical) translocation. Studies of unrelated persons are complicated by the effects of different breakpoints and of possible partial deletions.
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9/10. Acute lindane poisoning with development of muscle necrosis.

    A 35-year-old man ingested food contaminated with lindane, an insecticide containing almost pure gamma hexachlorocyclohexane. Grand mal seizures and severe acidemia developed rapidly. The seizures recurred for nearly 2 hours, then ceased. In addition, the patient had muscle weakness and pain, headaches, episodic hypertension, myoglobinuria, acute renal failure and anemia. pancreatitis developed 13 days after the ingestion of lindane. A muscle biopsy on the 15th day of illness demonstrated widespread necrosis and regeneration of muscle fibres. The patient's condition improved and he was discharged 24 days after the onset of his illness. During the year following the poisoning the patient noted difficulty with recent memory, loss of libido and easy fatigability. One year after lindane ingestion the results of physical examination, including those for muscle power and bulk, were normal.
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10/10. imipramine and seizures.

    The authors report the case of a psychotic preschool child who manifested a seizure disorder while on imipramine treatment. They note that according to his history and physical exam, the child fell within a group which seems predisposed to this side effect. Although tricyclic antidepressant compounds can be used judiciously with seizure-prone individuals, the authors recommend that alternative modalities be given first consideration.
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