Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder

Keyphrases

• Whole Exome Sequencing 100%
• Masquerade 100%
• Infantile Onset 100%
• Mitochondrial Disease 100%
• Alexander Disease 100%
• White Matter Changes 40%
• Leukoencephalopathy 40%
• Adulthood 20%
• Brainstem 20%
• Basal Ganglia 20%
• Protein-coding Genes 20%
• Head Circumference 20%
• Change Signal 20%
• Differential Diagnosis 20%
• Neurological Symptoms 20%
• Methyl 20%
• Imaging Findings 20%
• Urinary Excretion 20%
• Genome Analysis 20%
• Next-generation Sequencing 20%
• Cerebellar Atrophy 20%
• Cerebellar Signs 20%
• Magnetic Resonance Spectroscopy 20%
• White Matter 20%
• Lactate 20%
• Neurological Signs 20%
• Abnormal Eye Movements 20%
• Glial Fibrillary Acidic Protein 20%
• Macrocephaly 20%
• Neonatal Period 20%
• Molecular Etiology 20%
• White Matter Structure 20%
• Failure to Thrive 20%
• Contrast Enhancement 20%
• Pyramidal Signs 20%
• Developmental Regression 20%
• Mitochondrial Leukoencephalopathy 20%
• Astrogliopathy 20%
• Glutaconic Acid 20%

Medicine and Dentistry

• Exome Sequencing 100%
• Disorders of Mitochondrial Functions 100%
• Alexander Disease 100%
• Leukoencephalopathy 60%
• Neurologic Disease 40%
• Deterioration 20%
• Sequence Analysis 20%
• Protein Sequencing 20%
• Differential Diagnosis 20%
• Physical Disease by Body Function 20%
• Urinary Excretion 20%
• Lactic Acid 20%
• Brainstem 20%
• Next Generation Sequencing 20%
• Thalamus 20%
• Basal Ganglia 20%
• Glial Fibrillary Acidic Protein 20%
• Molecular Pathology 20%
• Macrocephaly 20%
• Newborn Period 20%
• Exome 20%
• Failure to Thrive 20%
• Eye Movement Disorder 20%
• Cerebellum Atrophy 20%
• Developmental Regression 20%
• NMR Spectroscopy 20%