Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy. (May 2018)

• Record Type: Journal Article
• Authors: Sharma, Suvasini; Singh, Preeti; Fernandez-Vizarra, Erika; Zeviani, Massimo; Van der Knaap, Marjo S.; Saran, Ravindra Kumar
• Is Part Of: Journal of child neurology. Volume 33:Number 6(2018:Jun.)
• Page Start: 428
• Page End: 431
• Publication Date: 2018-05
• Subjects: inborn error of metabolism -- seizures -- mitochondrial disorder -- magnetic resonance imaging (MRI) -- leukodystrophy; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073818760875
• Languages: English
• ISSNs: 0883-0738

Abstract

A 5-year-old Indian boy presented with subacute onset regression of milestones associated with seizures and spasticity. The symptoms started after an attack of measles. The magnetic resonance imaging (MRI) of the brain showed cavitating leukodystrophy with posterior predominance. Molecular analysis of the APOPT1 gene, a recently described gene associated with mitochondrial leukodystrophy, showed the patient to be homozygous for a 12.82-kilobase deletion, including coding exon 3. Deletion of exon 3 produces a frameshift, predicting the translation of a truncated protein (p.Glu121Valfs*4). The patient was started on mitochondrial cocktail regimen of thiamine, riboflavin, coenzyme Q and carnitine. Although he initially showed some improvement, he died 6 months after the onset of his illness.