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Twenty-eight patients, all of whom developed multiple sclerosis before 16 years of age and all from a well-defined geographical population (Grampian, north-eastern Scotland) were retrospectively studied. Age at presentation, presenting features and interval between first and second attacks are discussed. Follow-up ranged from three to 47 years and adult(More)
We report a 13 year old boy with fragile X syndrome resulting from a de novo deletion of the FMR1 and FMR2 genes extending from (and including) DXS7536 proximally to FMR2 distally. The patient has severe developmental delay, epilepsy, and behavioural difficulties, including autistic features. He has epicanthic folds, in addition to facial features typical(More)
The authors report two cases of multiple sclerosis occurring in very young children. Age at onset in one child was 13 months; he had the primary progressive form of the condition and died at nine years. Age at onset of the other child was two years; he has the classical relapsing-remitting form and is well at 15 years. These children illustrate the broad(More)
Twelve albino children with IQs in the normal range were psychometrically assessed and compared to a control group of equally visually handicapped children who were non-albino. A striking and consistent pattern of cognitive functioning emerged in the albino group (a large verbal/performance discrepancy in favour of verbal skills) which could not be(More)
Plasma ammonia was measured in 59 children requiring anticonvulsant drugs: 37 children (group 1) on sodium valproate alone or in combination with other drugs and 22 children (group 2) on drugs other than sodium valproate. Plasma ammonia was higher in group 1 children. Total and free carnitine was measured in plasma and erythrocytes of all children and in(More)
A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise(More)
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