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1.
Rev. chil. pediatr ; 66(5): 265-9, sept.-oct. 1995. ilus
Article in Spanish | LILACS | ID: lil-164982

ABSTRACT

Se describen tres niños, uno varón, de 4, 6 y 2 años de edad, afectados de aciduria glutárica tipo I. Su desarrollo fue normal hasta la segunda mitad del primer año de vida, cuando sufrieron alteración de conciencia y convulsiones, seguidas de pérdida de las habilidades adquiridas, distonía y movimientos anormales. La tomografía axial y resonancia nuclear magnética de cerebro mostraron atrofia frontotemporal y de los núcleos caudados y putámenes. Habíagran cantidad de ácidos glutárico, 3-hidroxiglutárico y glutacónico en orina y actividad disminuida de la enzima glutaril CoA deshidrogenasa en cultivos de fibroblastos de los tres niños, confirmándose así el diagnóstico de esta afección metabólica


Subject(s)
Humans , Male , Female , Child, Preschool , Glutamic Acid/urine , Acidosis/urine , Amino Acid Metabolism, Inborn Errors/diagnosis , Oxidoreductases/deficiency , 3-Hydroxyacyl CoA Dehydrogenases/urine , Acidosis/diet therapy , Basal Ganglia Diseases/enzymology , Clinical Enzyme Tests , Dystonia/etiology , Encephalitis/etiology , Amino Acid Metabolism, Inborn Errors/diet therapy , Fibroblasts/enzymology , Psychomotor Disorders/etiology
2.
Indian J Pediatr ; 1989 Mar-Apr; 56(2): 267-72
Article in English | IMSEAR | ID: sea-84318

ABSTRACT

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.


Subject(s)
Adolescent , Adult , Alkaline Phosphatase/blood , Basal Ganglia Diseases/enzymology , Bone Diseases, Metabolic/enzymology , Calcinosis/enzymology , Child , Female , Humans , Hypoparathyroidism/enzymology , India , Infant , Male , Seizures/enzymology
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