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Clinical Pediatrics
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Connatal Leigh Disease

Steven B. Coker

Department of Neurology, Loyola University Medical Center, Department of Pediatrics, Loyola University Medical Center

Chinnamma Thomas

Department of Pathology, Loyola University Medical Center, Maywood, Illinois

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.

Clinical Pediatrics, Vol. 34, No. 7, 349-352 (1995)
DOI: 10.1177/000992289503400702
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