Sotos' syndrome of cerebral gigantism.

Excessive secretion of growth hormone after epiphysial fusion will produce the clinical features of acromegaly, which is not in itself associated with increased stature. Before closure of the epiphyses this situation will lead to gigantism, which is confined almost exclusively to the adolescent age-group in its first appearance. Though con-comitant enlargement of some of the extremities is not uncommon in true or even constitutional gigantism, it is almost unknown in pre-adolescent children. Recently Sotos et al. (1964) described a condition characterized by excessively rapid growth dating from infancy, acromegalic features, and a non-progressive neurological dysfunction manifested by clumsiness and a dull intelligence. The affected patients bore a remarkable resemblance to each other. The authors coined the term 'cerebral gigantism' for this syndrome. Other relatively constant clinical features noted in their cases included dolicocephaly, with macrocrania, hypertelorism, a high arched palate, accelerated skeletal maturation, and the absence of obvious endocrine dysfunction. Pneumoencephalography in such cases usually reveals dilated cerebral ventricles without an obstructive lesion. Convulsions are frequent in this syndrome but electro-encephalography shows only non-specific abnormalities. A patient conforming closely to the criteria of Sotos and co-workers had been described earlier (Mikulowski, Stopyrowa, and Medvey, 1962). 41 examples of this syndrome are now known, and details of 2 further cases with full endocrino-logical findings are presented in this paper. Case Reports Case 1. The patient was the only child of unrelated 19-year-old parents. The mother's general health had been good, and the only drugs taken during the pregnancy were promethazine and iron. Labour was induced surgically for moderate pre-eclamptic toxaemia at 37 weeks' gestation. She was delivered normally by the vertex, the birthweight being 2466 g. (1 SD below the mean). Length and head circumference were not recorded at birth, but she seemed long and had long fingers and toes, a possible diagnosis of Marfan's syndrome being entertained at this time. Initially, she fed poorly and was moderately jaundiced, the serum bilirubin reaching 19 mg./100 ml. on the sixth day. At 2 weeks of age, she developed bronchopneumonia with cyanosis and convulsions which responded to antibiotics, anticonvulsants, and oxygen. Four weeks later, she was readmitted with vomiting which subsided after administration of methylscopolamine nitrate, though the cause was not ascertained. Scattered cavernous haemangiomata were noticed at this time and several fresh lesions appeared over the next 6 months. The patient was admitted on two further occasions on account of febrile convulsions …