Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0494475 (tonic-clonic seizure)
 1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

McLeod syndrome was originally described on the basis of a specific blood group phenotype with weak expression of Kell antigens. This erythrocyte abnormality also causes acanthocytosis. The haematological findings are associated with abnormalities in other organ systems, including neuromuscular manifestations. A 51-year-old patient was followed up for 11 years. He presented with persistent muscle creatine kinase elevation and progressive heart disease and later developed a slowly progressive neuropathy and choreic movements. His younger brother presented with grand mal seizures, involuntary movements and high muscle creatine kinase when aged 43 years. Clinical myopathy was absent in both, yet muscle biopsy showed mild myopathic changes. The presence of a motor axonopathy was supported by electrophysiological findings. One brother also showed sensory axonopathy. The movement disorder suggested accompanying basal ganglia dysfunction. Earlier reports of McLeod syndrome are reviewed with respect to neuromuscular involvement. Absence of the Kx membrane protein seems to be the cause of this multi-system disorder.
 ...
PMID:McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. 151 5

An abnormality of chromosome 16 in an eight year-old male was associated with a multiple congenital anomalies syndrome characterized by myopathy, cataracts, blepharophimosis, microcephaly, failure to grow, profound mental retardation, moderate sensorineural hearing loss, grand mal seizures, bilateral inguinal hernia, and thoracolumbar kyphoscoliosis. Magnetic resonance imaging of the head demonstrated absence of the corpus callosum and extensive loss of brain parenchyma in the occipital regions. Chromosome analysis from peripheral blood of the patient showed a recombinant chromosome 16 [46, XY, rec (16), dup (p13.1----p13.3) del (q22----q24)]. The mother had a pericentric inversion of chromosome 16 [46, XX, inv(16) (p13.1;q22)]. Independent recombinant DNA studies have shown that the breakpoints of these chromosomal rearrangements flank the alpha-globin gene cluster locus.
 ...
PMID:Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormality. 381 61

Clinical and morphological findings in five patients, three girls and two boys, afflicted with congenital muscular dystrophy (CMD) and cerebral lesions are reported. Four of these patients represented two pairs of siblings, and all patients had died in early infancy. Three of the patients had muscle hypotonia in early infancy, two siblings died with a necrotizing myopathy before neuromuscular symptoms became clinically apparent. Two siblings had intractable grand mal seizures, one other boy had polymicrogyria, and a single child had internal hydrocephalus. Muscle morphology in all patients was compatible with CMD, showing a necrotizing component in two male sibs. Electron microscopy of muscle only revealed non-specific ultrapathology. The association of CMD with cerebral lesions renders prognosis unfavourable. The data presented do not permit the delineation of a precise nosological form of cerebro-muscular disease but may comprise several entities. The association of CMD and cerebral lesions may often occur in families, apparently following an autosomal-recessive mode of inheritance. It may not be identical to the Fukuyama type of CMD, and it is definitely different from the "muscle, eye and brain disease" in Finnish children. It seems to be similar to CMD with cerebral lesions observed in non-Japanese siblings, but whether it is actually the same disease remains unclear. At least the association of CMD and cerebral lesions indicate an unfavourable clinical prognosis.
 ...
PMID:A morphological study of non-Japanese congenital muscular dystrophy associated with cerebral lesions. 641 78

A 32-year-old woman with migraine for several years again had a migraine attack with headache, nausea, vomiting and eye-muscle disorder, 14 days after an uncomplicated delivery. Within 24 hours a left-dominant hemiparesis developed, followed 12 hours later by tonic-clonic seizure and deep unconsciousness (Glasgow score: 3); the patient could not be aroused. Cranial computed tomography revealed extensive infarction of the brainstem and cerebellum. Angiography demonstrated occlusion of the basilar artery but not other abnormalities of other vessels. There was no evidence for vascular anomalies and the clotting tests were normal. Transoesophageal echocardiography demonstrated an atrial septal aneurysm. But any interatrial shunt (e.g. through a patent foramen ovale) was excluded by colour Doppler sonography, making it highly unlikely that a paradoxical embolus was the cause of the infarction. The brainstem infarction resulting from the basilar artery occlusion did not respond to treatment and the patient died 10 days after the initial seizure.
 ...
PMID:[Atrial septum aneurysm as the cause of a thromboembolic infarction of the brain stem and cerebellum?]. 835 49

A case is reported of a chronic intestinal pseudoobstruction with lethal outcome in a 6-year-old boy. The clinical symptoms and radiology examination showed ileus without mechanical obstruction. During the observation the patient developed left sided mydriasis and grand mal seizures with lactacidosis. He was treated conservatively which included total parenteral nutrition, fluid-sodium supplements, intravenous erythromycin and somatostatin, correction of acidosis. On the 48th day he died suddenly of cardiac failure at the intensive care unit. The gastrointestinal and neurologic symptoms with lactacidosis suggested the possibility of mitochondrial myopathy. Postmortem histopathology showed visceral myopathy. Molecular genetic analysis could not confirm the presence of the mDNA mutation.
 ...
PMID:[Chronic intestinal pseudoobstruction due to visceral myopathy]. 1761 Nov 83

Paclitaxel, a microtubule stabilizer, is an effective agent for treating cancer of the breast, ovary, head and neck, and lung. Because paclitaxel is insoluble in water, it is formulated with the micelle-forming Cremophor EL. Neurologic toxicity is well described with both the drug and this carrier, with most toxicities manifesting as peripheral neuropathy, motor neuropathy, autonomic neuropathy, and myopathy. Toxic effects on the central nervous system, such as seizures or encephalopathy, have been rarely reported; however, the seizures reported were closely related to the time of infusion. We describe a 41-year-old woman with no history of seizures who was treated with paclitaxel for breast cancer. Four days after the drug was infused, she developed a generalized tonic-clonic seizure that could not be attributed to other causes. The patient was treated with phenytoin and was able to complete her adjuvant chemotherapy with nab-paclitaxel without further events. Her condition was neurologically stable without phenytoin for the next 6 months. Use of the Naranjo adverse drug reaction probability scale indicated a possible association (score of 3) between the delayed seizure and paclitaxel or its solvent, Cremophor EL. Clinicians should be aware of the potential for seizure activity in patients who receive paclitaxel formulated with Cremophor EL.
 ...
PMID:Delayed seizure associated with paclitaxel-Cremophor el in a patient with early-stage breast cancer. 1963 53

Myopathy is a rare complication of influenza infections. Here, we report on an eight-year-old girl with severe myopathy due to new pandemic influenza A (H1N1). She presented with severe myopathy following generalized tonic-clonic seizure and recovered completely within a few days.
 ...
PMID:Severe myopathy caused by the new pandemic influenza A (H1N1) in a child. 2064 68