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)

Institutionalized epileptic patients on long-term anticonvulsant diphenylhydantoin (DPH) therapy were examined clinically. DPH plasma levels were unexpectedly high in 54% despite rather poor seizure control. No patient was free from side effects, which included gingival hypertrophy (90% of patients), increased alkaline phosphatase activity (55%), suggestion of a sensory peripheral neuropathy (34%), central nervous system (CNS) intoxication (22%), coarsened facial features (19%), tendency to bleed excessively (15%), hirsutism (12%), and mild megalocytic anemia (5%). CNS intoxication correlated with high plasma DPH levels, reports of deteriorating behavioral and motor performance, and the findings of nystagmus on vertical gaze or truncal ataxia, though not all patients with high plasma levels were clinically intoxicated. Alarming were the often disfiguring changes of gums and facial structures and the tendency to develop signs of vitamin D deficiency secondary to therapy. Hirsutism was rare in black patients. Plasma DPH level determinations are recommended as part of the management of mentally retarded epileptic patients but do not replace clinical acumen and skill.
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PMID:Effects of diphenylhydantoin in 41 epileptics institutionalized since childhood. 19 Jul 7

Nutritional, racial, cultural, and environmental factors have combined to produce a resurgence of vitamin D deficiency rickets in urban Philadelphia. Between January 1974 and June 1978, 24 cases were diagnosed at the Children's Hospital of Philadelphia. Patients' ages ranged from 4 to 58 months. Presenting complaints included seizures, swollen wrists, pathologic fractures, and developmental regression. Sixteen patients were below the third percentile for length and weight. Laboratory results indicated vitamin D deficiency in nursing mothers as well as in infants. All infants had been breast-fed and all were black. Ingestion of vitamin D was limited by exclusion of meat and/or dairy products in 21, and no infants had consistently taken supplemental vitamins. Nineteen were members of Muslim or Seventh Day Adventist faiths. Endogenous synthesis of vitamin D was limited by dark skin, by dressing in long garments with hoods and veils, and by air pollution in a densely populated northern city. The return to a more "natural" diet, free of food additives, has been accompanied by the return of a classic disease of industrial society. Effective management required patience and respect for religious convictions. With treatment, there was correction of chemical and skeletal abnormalities, but few patients showed catch-up growth.
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PMID:An outbreak of vitamin D deficiency rickets in a susceptible population. 57 26

The hypocalcaemia observed in infants and children may have different causes, the most common being vitamin D deficiency rickets, which still exists, and hypoparathyroidism, which is rare. The clinical manifestations of hypocalcaemia may be neurological disorders, such as seizures, respiratory disorders with possible laryngospasm or severe cardiac disorders that may result in sudden death. Pronounced or symptomatic hypoglycaemia requires hospitalization and active therapy. Treatment has now been improved by the 1-hydroxyle derivatives of vitamin D.
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PMID:[Hypocalcemia in infants and children]. 271 66

The clinical, biochemical and radiological features of spontaneously occurring hypoparathyroidism in 13 patients (mean age 9 years, range 4 months to 20 years) are highlighted. Nine patients presented with a history of generalised seizures and 2 were in acute hypocalcemic crisis at the time of admission. Ocular involvement (corneal opacities, cataract) was present in 3 patients and vitiligo in 1 patient. The serum calcium level was low (mean 5.46 mg/dl, range 5.0-7.2) and serum phosphorus level was high (mean 8.49 mg/dl, range 6-14 mg/dl) in all the patients. Six patients had elevated serum alkaline phosphatase (greater than 20 KAU). Radiological examination revealed osteopenia in 3 patients. Nine patients underwent a head CT scan; 5 had evidence of basal ganglia calcification. The findings of elevated serum alkaline phosphatase and osteopenia are at variance with existing literature and may possibly reflect pre-existing vitamin D deficiency.
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PMID:Spontaneous hypoparathyroidism: clinical, biochemical and radiological features. 280 54

An 8-year-old boy with vitamin D-deficiency rickets, increased serum creatine kinase (CK), and hypocalcemia is described. At 5 years of age, he was evaluated because of recurrent tonic seizures. He had growth retardation, microcephaly, quadriplegia, mental retardation, and epilepsy. Muscle strength was difficult to assess because of multiple joint contractures. Deep tendon reflexes were hyperactive. Laboratory data indicated rachitic changes on x-ray, hypocalcemia, low serum 25-hydroxyvitamin D3 (25-OH-D) and 1-alpha-25-dihydroxyvitamin D3 (1-alpha-25-[OH]2-D) levels, a normal response to the Ellsworth-Howard test, and markedly increased CK. Electromyography and nerve conduction velocities were normal. The patient responded to 1-alpha-OH-D treatment with increased serum calcium and normal CK activity; a significant correlation (p less than 0.01) was observed between calcium and log CK. The clinical course and laboratory findings supported the hypothesis that the increased CK was due to hypocalcemia, which in turn was due to the vitamin D deficiency in the severely handicapped child with malnutrition.
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PMID:Increased serum creatine kinase due to hypocalcemia in vitamin D deficiency. 350 46

In a patient with primary hypoparathyroidism the disease ran for years only generalized convulsions resistant to antiepileptic medication, and was lately complicated by bilateral cataracts. Low serum calcium and elevated serum phosphorus found on occasion of a grand mal status resistant to routine treatment and to intravenous barbiturates revealed the correct diagnosis. The seizures have been suppressed by normalyzing the serum calcium levels. The pathophysiology of convulsive seizures during hypocalcemia is discussed, and the possibility is raised that antiepileptic drugs could have contributed to hypocalcemia through a vitamin D deficiency.
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PMID:[Idiopathic hypoparathyroidism and convulsive seizures]. 746 5

At the Aga Khan Hospital (AKUH), 65 infants presented with hypocalcaemic seizures, subsequently found to have rickets. Forty-six infants less than 6 months were totally or predominantly breast fed. In a subgroup of 15 mothers and their infants, we found very low plasma levels of 25(OH) vitamin D of < 5 micrograms/l and 7.5 +/- 3.3 micrograms/l, respectively. Neither mothers nor infants received vitamin D supplementation. Maternal vitamin D deficiency and non-supplementation in the infants were the likely causes of rickets in our patients. Prophylactic vitamin D 400 i.u. administered to infants up to 2 years and 800 i.u. to women in pregnancy and during lactation is recommended to prevent vitamin D deficiency.
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PMID:Vitamin D deficiency rickets in breast-fed infants presenting with hypocalcaemic seizures. 748 23

We report three neonates with transient hypoparathyroidism with elevated parathyroid hormone (PTH) levels to clarify further the pathogenesis of late neonatal hypocalcemia and calcium homeostasis. Clinical signs were seizures starting at age of 10 and 11 days. The biochemical features were characterized by transient hypocalcemia and hyperphosphatemia due to a high transport maximum of the phosphate/glomerular filtration rate, despite high PTH levels. All had normal magnesium and calcidiol levels (at least 5 micrograms/l) for their age, and this precludes hypoparathyroidism due to low magnesium levels and hyperparathyroidism due to overt vitamin D deficiency. To diagnose pseudohypoparathyroidism type I, intravenous human PTH (1-34) infusions were performed; however, they showed brisk responses of plasma and/or urine cyclic AMP in response to the PTH infusion, but the phosphaturic response to the PTH was sluggish compared to the controls. All three showed an increase in serum alkaline phosphatase activity, suggesting PTH stimulation of osteoblasts. They were treated initially with calcium lactate or (1 alpha)-hydroxycalciol/calcitriol. Their hypoparathyroid condition, however, was transient; they maintained normal serum calcium and PTH levels without medication before the age of 6 months. The etiology, possibly intracellular signal transduction distal to cyclic AMP and/or distinct from adenylate cyclase in the kidney, is developmental and the condition was resolved completely within 6 months of age. We have termed this condition "transient pseudohypoparathyroidism of the neonate".
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PMID:Transient pseudohypoparathyroidism of the neonate. 765 38

To assess the current picture of vitamin D deficiency, we reviewed all 17 cases of vitamin D-deficiency rikets seen in the referral clinic of a children's hospital in Toronto between 1988 and 1993. The diagnosis was made at 7 to 33 months of age. All the children were symptomatic all had biochemical and radiographic abnormalities, two suffered hypocalcemic seizures, and all had bowing of the extremities. Twelve of the children were born to parents who were recent immigrants to Canada. All were of Asian or African origin with dark skin. All the children had been exclusively breastfed with no vitamin D supplementation, and had had little or no sunlight exposure. All the patients responded to vitamin D therapy. We conclude that vitamin D-deficiency rickets remains an environmental/nutritional deficiency disease in this city and that efforts at prevention should target children with pigmented skin from families who are recent immigrants.
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PMID:Persistence of Vitamin D-deficiency rickets in Toronto in the 1990s. 909 96

Bone loss leading to osteoporosis is common after the menopause and in the elderly but uncommon in normal young adults without predisposing factors. The risk factors usually associated with osteoporosis include a family history of osteoporosis or fractures, aging, prior diseases, sedentary lifestyle, low calcium intake, hypogonadism, vitamin D deficiency, smoking, and excessive alcohol consumption. However, the issue of drugs has to be considered in 'normal' individuals who present with osteoporosis or bone loss without predisposing genetic or other environmental factors. The list of drugs is extensive and includes, amongst others, glucocorticoids, thyroid hormone (excess), alcohol, medroxyprogesterone acetate, luteinizing hormone-releasing hormone agonists, anti-seizure medications, cyclosporine A, aluminium, lithium, and exchange resins. This paper reviews the pathophysiology and mechanisms of drug-induced bone loss, which includes osteoporosis and osteomalacia, and treatment concepts. Undoubtedly, physician awareness, appropriate investigation, careful prescribing, monitoring, and proper therapy for this eminently preventable side effect can preserve bone in the patients receiving bone-losing drugs.
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PMID:Drug-induced bone loss. 1109 67


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