Excessive weight gain occurred in a patient who was taking sodium valproate and phenytoin.

SUMMARY Neurological and psychological assessment was carried out on 30 patients aged 2-7 to 21 years (mean 9 4) who were being treated for hypothyroidism starting before the age of 2 years.Their IQ scores lay in the normal range (71-122; mean 92 4) but 77°% showed at least one sign of impaired brain function. Clumsiness was found in 33 %, behaviour disorders in 23 %, speech disorders in 20%, learning disorders in 26%, squint in 53%, nystagmus in 10%, and minor motor disorders in 50%. Many showed several of these features and hypothyroidism in early life appears to lead to widespread impairment of brain function. These neurological findings were equally common in patients in whom treatment started between 4 and 10 weeks of age and patients treated after 10 weeks, suggesting that early detection of hypothyroidism by neonatal screening may be of limited benefit. Children who have been hypothyroid in early infancy require careful assessment to prevent further visual, emotional, scholastic, or vocational difficulties.

Two children with Canavan's Disease, an autosomal recessive leukodystrophy, were studied by localized 1H spectroscopy. The N-acetylaspartate (NAA) signal intensity was high relative to other metabolite signals, and the signal intensity from choline-containing compounds was low. These findings are discussed in relation to a possible role for NAA in normal myelination.

No abstract

The unrelated healthy parents requested genetic counselling after the birth of the first affected child. They had a normal girl. In view of the combination of severe retardation, microcephaly, and intracranial calcification, an intrauterine infection was considered, although no confirmation of this was found. A lowish recurrence risk was given. The mother then became pregnant again and the fetal head circumference was measured at 17, 20, and 25 weeks and compared with the abdominal circumference.