학술논문
Hereditary Folate Malabsorption: A Rare Treatable Disorder with Hematological and Neurological Manifestations.
Document Type
Case Study
Author
Source
Subject
*MALABSORPTION syndromes
*INFANT development
*VITAMIN B12
*VITAMIN E
*PSYCHOMOTOR disorders in children
*MAGNETIC resonance imaging
*NEUROLOGIC manifestations of general diseases
*FOLIC acid
*BLOOD testing
*SEIZURES (Medicine)
*RARE diseases
*CHILDREN
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Language
ISSN
0972-2327
Abstract
A case study a 20‑month‑old boy born to third‑degree consanguineous parents presented to the pediatric neurology outpatient clinic with a history of multiple daily episodes of generalized tonic– clonic seizures, and myoclonic jerks of one‑month duration. Topics include antiseizure medications with poor seizure control despite treatment with neurological problem; and Electroencephalogram (EEG) revealed epileptiform activity arising from the bilateral posterior head region.