Megalencephalic leukoencephalopathy with subcortical cysts: A third confirmed case with literature review

Pediatric and Developmental Pathology

Volumn 12, Issue 3, 2009, Pages 180-186

  Miles, Lili ^a   DeGrauw, Ton J ^a   Dinopoulos, Argirios ^a   Cecil, Kim M ^b   Van Der Knaap, Marjo S ^c   Bove, Kevin E ^a  

^a Children's Hospital Research Foundation   (Netherlands)

^b CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Brain biopsy; Brain MRI; Leukoencephalopathy; MLC1 mutation; Myelin disorder; Ultrastructure

Indexed keywords

AMINO ACID;

AMINO ACID ANALYSIS; ANAMNESIS; ARTICLE; BRAIN BIOPSY; BRAIN CYST; CASE REPORT; CELL ORGANELLE; CELL VACUOLE; CINGULATE GYRUS; DEFECATION HABIT; DEVELOPMENTAL STAGE; DISEASE DURATION; FRONTAL LOBE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GESTATIONAL AGE; GRAY MATTER; HEAD CIRCUMFERENCE; HEMATOLOGY; HETEROZYGOTE; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; INTRON; IRRITABILITY; LEUKOENCEPHALOPATHY; LIVE BIRTH; MACROCEPHALY; MALE; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; MICROGLIA; NERVE FIBER; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SLEEP DISORDER; TEMPORAL LOBE; URINALYSIS; VOMITING; WHITE MATTER;

AXONS; CENTRAL NERVOUS SYSTEM CYSTS; DEMENTIA, VASCULAR; GESTATIONAL AGE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON, TRANSMISSION; NERVE FIBERS, MYELINATED; POINT MUTATION;

EID: 66749125877     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/08-06-0481.1     Document Type: Article

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