Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemiconvulsion-hemiplegia-epilepsy syndrome is characterized by unilateral convulsions during fever, transient hemiplegia, and subsequent partial epilepsy with atrophy in the cerebrum. A 9-year-old boy with a history of West syndrome and hypoglycemic attacks had three episodes of epileptic status and clusters mimicking HHE syndrome over a 2-year period. Magnetic resonance imaging revealed the involvement of the right and left cerebrums. Because no abnormalities were detected in an endocrine examination, screening tests for metabolic errors, or magnetic resonance spectroscopy, a diagnosis of metabolic errors was not supported. Immunohistochemistry using the patient's sera showed binding of the serum immunoglobulin with neurons in the temporal and occipital cerebral cortices, indicating the possible involvement of autoimmune mechanisms in this case. Focal encephalopathy should be considered in children showing convulsions, psychiatric disorders, and/or involuntary movements for several months in a row. In such cases, immunohistochemistry using the patient's sera may be useful for the investigation of the pathogenesis of the illness.
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PMID:Focal encephalopathy with recurrent episodes of epileptic status and cluster mimicking hemiconvulsion-hemiplegia-epilepsy syndrome. 2175 61

Hemiconvulsion-hemiplegia-epilepsy syndrome involves sudden and prolonged unilateral seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Some patients with familial hemiplegic migraine and demonstrating the S218L mutation in CACNA1A experience severe attacks with unilateral cerebral edema after trivial head trauma. We report on a 5-year-old Japanese girl presenting with hemiconvulsion-hemiplegia-epilepsy syndrome after infection with parvovirus B19. Magnetic resonance imaging performed 2 days after admission revealed cerebellar atrophy and marked hyperintensity in the left hemisphere on T(2)-weighted and diffusion-weighted imaging. Magnetic resonance angiography performed 7 days after admission demonstrated obliteration of the left proximal middle cerebral artery in the acute phase. However, this finding was not evident on brain angiography performed 25 hours after magnetic resonance angiography. Genetic analysis of familial hemiplegic migraine revealed a heterozygous S218L mutation in CACNA1A. Taken together, these results suggest that vasospasms of cerebral vascular smooth muscle, with possible cortical spreading depression, may have caused the hemiconvulsions and hemiplegia in the left hemisphere. This case report is the first, to the best of our knowledge, to associate CACNA1A with hemiconvulsion-hemiplegia-epilepsy syndrome and familial hemiplegic migraine, and to suggest that similar pathogenic mechanisms may underlie these two disorders.
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PMID:Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation. 2182 70

Hemiplegia-hemiconvulsion-epilepsy syndrome is characterized by prolonged unilateral clonic seizures in a child followed by the development of hemiplegia. Focal status epilepticus results in unilateral cerebral edema of the epileptic hemisphere in the acute phase followed by cerebral hemiatrophy. Literature in the last 5 years does not describe malignant cerebral edema or resultant death. We report a case of a 3-year-old girl with hemiplegia-hemiconvulsion-epilepsy syndrome who died due to malignant cerebral edema and temporal lobe herniation. The first indication of worsening of clinical status after being seizure free was voltage suppression on continuous electroencephalography (EEG). We describe neuroimaging, EEG findings, and neuropathologic findings at autopsy and review pertinent literature. We also evaluate the evolving role of continuous EEG monitoring in the pediatric intensive care unit.
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PMID:Fatal outcome in hemiconvulsion-hemiplegia syndrome. 2327 56

Hemiconvulsion-hemiplegia-epilepsy syndrome is a rare consequence of a status epilepticus in the course of a febrile illness in children under the age of four years. Various degrees of hemiplegia and within a variable interval, subsequent epilepsia follows. Neuroimaging show unilateral cytotoxic oedema at the initial convulsive state, followed by severe chronic atrophy of the affected hemisphere. The aetiology remains unclear. Several mechanisms may contribute to this condition. To improve the outcome, further studies are needed and early diagnosis is essential.
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PMID:[Hemiconvulsion-hemiplegia-epilepsy syndrome]. 2553 40

Hemiconvulsion-hemiplegia-epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translocation leading to a terminal 1q43q44 deletion and a terminal 3p26.1p26.3 duplication that developed HHE after a prolonged febrile seizure and discuss the pathogenesis of HHE in the context of the patient's complex genetic background.
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PMID:Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome. 2719 90