Connatal Leigh disease.
Two children are described with pathology-proven Leigh disease. Rather than the typical degenerative course with loss of acquired development, they presented with a static encephalopathy manifested by seizures from birth and failure to acquire any milestones. A similar connatal presentation has been reported in other degenerative disorders, such as Pelizaeus-Merzbacher disease. Heredodegenerative disorders should be considered when no cause is discovered for a severe, congenital, static encephalopathy.
Coker
S B
SB
Department of Neurology, Loyola University Medical Center, Maywood, IL 60153, USA.
Thomas
C
C
D001921:Brain / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed