Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0009952 (febrile convulsions)
 1,215 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Serum 25-hydroxyvitamin D (25-OHD) levels were measured in 74 children randomly treated in a double-blind fashion with either 5 phenobarbital/kg/day or placebo after a single febrile seizure. Phenobarbital treatment for a period from 5 to 12 months had no effect on the 25-OHD levels. However, both in the phenobarbital and the placebo groups, vitamin D supplementation raised the circulating 25-OHD concentration (p less than 0.05). Whether it has a protective effect remains thus to be seen.
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PMID:Normal serum 25-hydroxyvitamin D levels in phenobarbital-treated toddlers. 686 1

Nutritional rickets is a serious disease that is infrequently encountered in the United States today because of the fortification of infant formulas and dairy products with vitamin D. We report a case of undiagnosed nutritional rickets presenting with recurrent febrile seizures. Febrile seizures, a common and usually benign presenting complaint, are not among the symptoms generally known to be associated with rickets. Therefore, the disease was uncovered only after a careful history and physical examination prompted a more thorough investigation into an underlying cause for recurrent seizures. The diagnosis was subsequently confirmed by quantitative laboratory testing. We review the historical and cultural factors, symptoms, and physical findings suggestive of this potentially serious yet easily treatable disease.
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PMID:First place winner. Recurrent febrile seizures: an unusual presentation of nutritional rickets. 1248 16

Vitamin D deficiency rickets (VDDR) is a disorder biochemically characterized by elevated serum alkaline phosphatase (ALP) activity, normal or decreased serum calcium (Ca) and inorganic phosphate concentrations, secondary hyperparathyroidism and decreased serum 25-hydroxyvitamin D (25(OH)D) levels. In stage 1 VDDR, urinary amino acid and phosphate excretion are normal with minimal or no findings of rickets on radiographs. Pseudohypoparathyroidism (PHP) is an inherited disorder characterized by end-organ resistance to parathormone (PTH). VDDR occasionally resembles PHP type 2 in clinical presentation and biochemical features, creating difficulties in the differential diagnosis of these two entities. Here we report an infant diagnosed with VDDR. In addition to inadequate vitamin D intake, usage of antiepileptic drugs (AED) may have led to the worsening of the vitamin D deficiency. The patient presented with a history of febrile convulsions, for which he received phenobarbital treatment. The initial findings of hypocalcemia, hyperphosphatemia and normal tubular reabsorption of phosphate, mimicking PHP 2, responded well to vitamin D and oral Ca treatment with normalization of serum Ca, phosphorus (P), ALP and PTH levels.
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PMID:Vitamin D deficiency rickets mimicking pseudohypoparathyroidism. 2127 19