Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Medical emergencies due to severe hypercalcaemia and hypocalcaemia are relatively rare in clinical practice. 89 cases of hypercalcaemia were seen during 1975-1987 and 16 presented as medical emergencies; renal colic (7) acute renal failure (3), spontaneous fractures (3), acute pancreatitis (1), cardiac arrhythmia (1) and acute hypercalcaemic crisis resulting in death (1). 81 cases of severe hypocalcaemia were seen during the same period. 22 presented initially as epileptic seizures with one ending fatally due to status epilepticus. The other emergencies were severe laryngeal stridor and inability to speak (7), papilloedema (3) and acute behavioural disorder (4). A few illustrative cases have been briefly described.
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PMID:Medical emergencies associated with disorders of calcium homeostasis. 229 66

Clinical, neuropathological and molecular genetic studies in a 9 month old boy with Pelizaeus-Merzbacher disease are described. The principal clinical features were developmental delay, nystagmus, stridor and seizures. Both brain and spinal cord showed almost complete absence of stainable central myelin, while cranial and spinal root myelin was preserved. Probes for cDNA in the boy and his asymptomatic mother indicated an increase in the dosage of proteolipid protein gene (of at least twofold) compared with controls.
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PMID:A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. 754

An instrument consisting of 10 questionnaires was developed to assess the ability of facilities to implement acute respiratory infection (ARI) case management guidelines. Data sources included interviews with physicians, nurses and area pharmacists; observation of patient care; review of patient records and an inventory of supplies. All 21 outpatient and two inpatient health facilities as well as 20 of 28 pharmacies in the district were included in the study. Of 93 child assessments observed, physicians asked the age for only 38 (41%). No child was questioned on ability to drink or experience of seizures. In addition, no physician checked for stridor, wheeze or chest indrawing, or counted the respiratory rate. 81 of 93 (87%) children with ARI were prescribed antibiotics. Among the 88 children assessed as not requiring antibiotics, 77 (88%) received them. Five children (2 pneumonia, 2 severe pneumonia, and 1 very severe disease) were determined to require antibiotics; four were prescribed an oral regimen. Of the four children that both required antibiotics and received them, three should have been admitted to the hospital for parenteral antibiotics, but were not. A variety of prescribed antibiotics were used among the 77 children. 27 (35%) children received two or three antibiotics without specifying the dose, frequency or duration on the prescription. Only two physicians mentioned the antibiotic dosage schedule for home care to the mother. Physicians at each of the outpatient facilities estimated the mean availability of antibiotics at 7.9 +or- 3.9 months. Three facilities (14%) had ampicillin suspension, none had amoxicillin and two (9%) had cotrimoxazole for the treatment of outpatient pneumonia. 19 (90%) had aspirin. Oxygen was available for inpatient care for children with pneumonia in one of the two hospitals, no nebulizers were available for treatment of wheezing, and disposable syringes were available in only one hospital. Parenteral bronchodilators were available in both, oral in neither. This instrument was useful for comprehensively evaluating facility capability to provide quality case management in the Egyptian ARI program.
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PMID:An instrument to assess acute respiratory infection case management in Egypt. 845 90

A five year retrospective review of all exposures to a high concentration phenol disinfectant (Creolin Disinfectant 26% phenol) reported to a regional poison center located 96 cases, with 16 cases lost to follow up. There were 60 oral-only exposures, 7 dermal-only exposures and 12 oral/dermal exposure. One patient was an inhalation exposure. Fifty-two cases (65%) were evaluated in a hospital. Eleven patients with oral exposures (14%) experienced rapid CNS depression, but no seizures occurred. Vomiting, coughing, and stridor was noted in 14, 7 and 4 patients respectively. Burns were noted in 17 of 72 (24%) patients with oral exposure and 5 of 19 (26%) with dermal exposure. Seventeen patients underwent endoscopy. Tissue sloughing was noted in one case. All other burns were first degree. No cardiovascular complications occurred. Twenty-eight patients (35%) were followed at home via telephone with one episode of vomiting and one episode of dermal irritation occurring. CNS toxicity from exposure to a high concentration phenol containing cleaning product appears to be rapid in onset. The absence of serious toxicity and major chemical burns in this series does not eliminate concern with the corrosive and systemic risks of phenol poisoning.
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PMID:A five year evaluation of acute exposures to phenol disinfectant (26%). 849 43

A dysmorphic infant is described who presented with laryngeal collapse leading to intubation and respiratory problems that were assigned clinically to the Sussman syndrome. The baby had repeated episodes of respiratory distress necessitating assisted ventilation. At 6 months old, uvulopharyngopalatotomy was done to enlarge the supraglottic airway without any benefit. Surgical reduction of the tongue and cricoid splitting did not ameliorate the respiratory distress; repeated extubation attempts failed with the baby developing stridor, respiratory distress, and episodes of cardiac arrest. At 10 months old he developed seizures and computed tomography showed diffuse cerebral atrophy consisted with hypoxic-ischaemic damage. He died at 17 months old. Western blots using antibodies against collagen alpha 1 (II) showed an absence of collagen type II in laryngeal tissue, which may explain the laryngeal collapse and impaired respiratory functions.
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PMID:Deficiency of laryngeal collagen type II in an infant with respiratory problems. 971 15

A 1.5-month-old boy with Sandifer's syndrome is described. After an uneventful delivery, he presented torticollis, seizure-like dystonic neck movements usually associated with feeding, episodic vomiting, inspiratory stridor and hand tremor in the first month of life. Barium esophagogram demonstrated gastroesophageal reflux, for which medical therapy was started. Children with torticollis and dystonic movements should be evaluated for Sandifer's syndrome. Early diagnosis and treatment of gastroesophageal reflux may prevent complications.
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PMID:A case of Sandifer's syndrome with hand tremor. 1176 69

Eighty-two episodes of status epilepticus or clusters of seizures in 45 children were treated with intravenous midazolam. Twenty-two children had epilepsy and 23 had acute symptomatic seizures. Midazolam was administered as an intravenous bolus dose at 0.06-0.4 mg/kg (mean 0.173 mg/kg), followed by continuous intravenous infusion at 0.05-0.4 mg/kg/hr (mean 0.191 mg/kg/hr). The mean duration of the treatment was 132.7 hours. Complete arrest of seizures was achieved in 62 episodes, and decrease by more than 50% in seizure frequency in 8 clusters of seizures. In these 70 successfully treated cases (85.4%), the effect appeared within 45 minutes after the initiation of therapy. No severe adverse effects were noted except stridor and mild respiratory suppression in 2 cases. Midazolam is an effective and safe drug to be used in a first-line or second-line therapy for status epilepticus and clusters of seizures in children.
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PMID:[Eight-year study on the treatment with intravenous midazolam for status epilepticus and clusters of seizures in children]. 1463 44

Differentiation of pseudoseizures from epileptic seizures and hysterical stridor from asthma is key to the treatment of patients. Both pseudoseizures and hysterical stridor are associated commonly with sexual abuse, eating disorders, depression, substance abuse, anxiety disorders, and personality disorders. Failure to reach an appropriate diagnosis results in inappropriate medical care including recurrent intubations, antiepileptic drugs, and excessive hospitalizations. This case represents the first instance of reported pseudoseizures in a patient with hysterical stridor secondary to childhood sexual abuse.
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PMID:Pseudoseizures and hysterical stridor. 1512 32

Respiratory disorders with stridor are a frequent cause of admission for children in an emergency department. Laryngospasm, as an isolated symptom of epilepsy, is a rare phenomenon [1, 3, 5]. Other respiratory symptoms of epilepsy, rarely seen in childhood, might be apnoeic spells [2, 4]. We report on a child with laryngospasm due to focal epileptic seizures.
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PMID:An unusual cause of stridor in childhood due to focal epileptic seizures. 1595 2

Rickets fortunately remains rare in the United Kingdom, although its actual incidence is currently undetermined.1 Many still consider it to be a disease of poverty prevalent during the Victorian era. However, a number of recent articles have highlighted concern among British health professionals about the number of cases still being diagnosed in this country. These cases have nearly all involved non-Caucasian children who are considered to be at high risk due to skin colour, prolonged breast feeding, and low maternal vitamin D levels. Their presentations are variable ranging from failure to thrive, bone deformities, seizures, and even stridor. The diagnosis is usually made in babies and toddlers.We present a series of patients attending our accident and emergency (A&E) department, over a five month period, where the diagnosis of rickets was primarily a radiological diagnosis.
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PMID:Incidental radiological diagnosis of rickets. 1604 49


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