Affiliation:
1. Department of Radiology Mother and Child, The Children’s Hospital, Mohammed 5 University, Rabat, Morocco
Abstract
Glutaric aciduria type 1 is an autosomal recessive lysine and tryptophan disorder characterized by glutamic acid and other metabolic by-product accumulation. This disease can be diagnosed in the postnatal period, supported by magnetic resonance imaging (MRI) and confirmed by biochemistry. This article aims to highlight the typical features of this disease in brain MRI which connects frontotemporal atrophy with bilateral and symmetrical signal abnormalities of the brainstem, periventricular white matter, and basal ganglia. As a result, we use two cases to show how this rare disease manifests itself in imaging.
Publisher
Edorium Journals Pvt. Ltd.
Subject
Public Health, Environmental and Occupational Health,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Medicine (miscellaneous),Public Health, Environmental and Occupational Health,Health Policy,Physical Therapy, Sports Therapy and Rehabilitation,Endocrinology, Diabetes and Metabolism,Epidemiology,Ophthalmology,General Medicine,General Dentistry,General Medicine,Pharmacology (medical),Pharmacology,Pharmacology (medical),Pharmacology,Physiology (medical),Physiology,General Medicine,Plant Science,General Biochemistry, Genetics and Molecular Biology,General Medicine