Childhood metabolic disorders of the central nervous system

MR (1.5 T) findings were correlated with clinical and laboratory data in seven children with nonketotic hyperglycinemia (NKH) and 12 children with cystinosis. Two distinct patterns of central nervous system (CNS) involvement were seen. In NKH, progressive (age-related), diffuse CNS atrophy was demonstrated in six of seven patients (86%). Decreased or absent myelination was seen in all four patients older than 10 months. Myelination delay shown by MR imaging correlated well with known pathologic findings in this disorder. In cystinosis, the diffuse CNS atrophy detected in 11 of 12 patients (92%) was not age-related. The degree of myelination was normal in all patients. Plaquelike, white-matter lesions were also identified in two patients (17%). MR imaging is a sensitive method for detecting CNS abnormalities that accompany childhood aminoacidopathies