OBJECTIVE To find out the spectrum of diagnosis, clinical presentation and role of neuroimaging in neurodegenerative disorders of childhood. DESIGN Observational study. PLACE AND DURATION OF STUDY Department of Neurology, Children's Hospital, Lahore from June, 2004 to May, 2005. PATIENTS AND METHODS A total of 1273 patients were admitted in the Neurology Department in the said period. Out of them, 66 children fulfilled the inclusion criteria. History, clinical examination and relevant investigations were carried out and proformas were filled. Data was analyzed for descriptive statistics. RESULTS In a total sample of 66, the male to female ratio was 1.4:1. Age range was one to twelve years. Metachromatic leukodystrophy was the predominant type seen in 14 (21%), followed by 11 cases of adrenoleukodystrophy (16%) and 8 patients with SSPE (12%). Six children (9.8%) had Wilson's disease. Five cases (7.5%) were diagnosed as Friedrich ataxia, 4 cases (4%) as lipidosis, 3 case as Gaucher's disease (4.5%), and two cases (3%) each as Alexander disease, and Hellervorden-spatz disease; and one case each as multiple sclerosis and ataxia telangiectasia. In 6 cases, final diagnosis could not be made. MRI and CT scan of brain were done in 71% and 41% patients only. Furdos copy (in 65%), CSF examination in 59% and EEG in 56% were main non-imaging investigations utilized for diagnosis. CONCLUSION Degenerative brain diseases are not an uncommon entity in paediatric population. Commonest presentation is regression of milestones, though, it may be variable. Because of limited diagnostic modalities, brain imaging has significant value. Facilities for enzyme studies should also be available at tertiary care hospitals.