'Multidisciplinary appraisal of the British Institute for Brain Injured Children, Somerset, UK'.
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to S Lingham.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
In 29 children with mental retardation and infantile spasms, cranial computed tomography findings were abnormal in 75% and this finding may lead to modification of treatment or influence genetic counseling. In 41 children with mental retardation and other forms of epilepsy abnormal computed tomography findings were much less frequent and were not relevant to treatment.
Purine overproduction, with normal levels of the purine salvage enzymes, has been found in a 3-year-old boy and his mother. Both have high-frequency hearing loss from infancy. The child is hypotonic and shows locomotor delay. Two male siblings with similar neurodevelopmental problems died in early childhood. Biochemical studies suggest a combined syndrome associated with a superactive PP-ribose-P synthetase which in its severest form may produce neurodevelopmental complications, as well as uric-acid overproduction. Severe depletion of erythrocyte nicotinamide adenine dinucleotide and guanosine triphosphate appears to be associated with the neurological abnormalities and may be useful in diagnosis.