infantile neuroaxonal dystrophy

(redirected from NBIA, PLA2G6-related)
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in·fan·tile neu·ro·ax·o·nal dys·tro·phy

[MIM*256600]
a rare, familial disorder of early childhood manifested as progressive psychomotor deterioration, increased reflexes, positive Babinski sign, hypotonia, and progressive blindness. Pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nervous system nuclei.

infantile neuroaxonal dystrophy

progressive hereditary degenerative encephalopathy transmitted as an autosomal-recessive trait, beginning in infancy with muscular hypotonia and arrest of development in late infancy, followed by dementia, blindness, spasticity, and ataxia. Pathologically it is characterized by widespread focal swellings and degeneration of the axons with scattered globular bodies in the brain. Also called Seitelberger's disease.

in·fan·tile neu·ro·ax·o·nal dys·tro·phy

(in'făn-tīl nūr'ō-ak'sŏ-năl dis'trŏ-fē)
A rare, familial disorder of early childhood manifested as progressive psychomotor deterioration, increased reflexes, Babinski sign, hypotonia, and progressive blindness.