Matloob Azam.
Neurodegenerative diseases of infancy and childhood.
Pak J Pathol Jan ;7(3):111-8.

Clinical and laboratory features of 99 children diagnosed as neurodegenerative diseases are reported. Twenty tune children were given a specific diagnosis, 70 remained unknown degenerative brain disorders. Leucodystrophy (10 patients) and neuronal ceroid lipofuscitosis ( 8 patients) were the commonest diagnoses. Eighty six children presented after the age of one year and 64 presented with some kind of developmental delay, EEG was performed on 37 patients and 33 were abnormal whereas 20 head CT scans were done and 14 were reported abnormal. Parents of 90 children were related and vast majority of them were first cousions. Thirty eight patients had 1 or more sibs affected with similar neurological disorders. Two patients were twins.

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