Paine syndrome

General: Microcephaly-spastic diplegia; occurs 434b13e only in males; onset from birth; sex-linked inheritance; poor prognosis, death usually within first year.

Ocular: Optic atrophy.

Clinical: Microcephaly; poor swallowing; retarded physical and mental development; seizures; lack of interest in environment; hyperreflexia; cerebellar hypoplasia; myoclonic fits; elevated level of amino acids in the cerebrospinal fluid; hypoplasia of cerebellar inferior olives and pons.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Paine RS. Evaluation of familial biochemically determined mental retardation in children, with special reference to amino aciduria. N Engl J Med 1960; 262:658-665.