Radiographic findings in hypothalamic acceleration of growth associated with cerebral atrophy and mental retardation (cerebral gigantism).

Abstract

In 1964 Sotos et al. (37) described a syndrome which they called “cerebral gigantism.” This included “extensively rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation.”A case that fits well with the criteria of Sotos was described previously by Mikulowski and others in 1962 (20), four more recent cases have been reported by Marie et al. (17), and one each by Kjellman (13) and Kowlessar (14). The syndrome differs from true acromegalic gigantism in presenting no evidence of pituitary tumor by either laboratory data or radiologic examination. The presence of ventricular dilatation and mental retardation also does not fit with acromegaly. Clinical Findings The present series consists of 10 children, 9 boys and one girl, seen at the Henry Ford Hospital, Detroit, Mich. As with true pituitary gigantism the condition is more common in males, for of the other 12 reported cases 8 were in boys. The birth heights were above the eightieth percentile in 8 of the patients, and the weight was above the eightieth percentile in 9. The musculature was normal, and the hands and feet were large with thick subcutaneous tissues. The height and weight curves parallel the mean Iowa Height and Weight Growth curves, but are two to five standard deviations above them. All the children have a relatively characteristic craniofacial configuration with a prominent forehead, relatively sunken eyes, a large jaw, and high arched palate. The genital development is consistent with their advanced somatic development. All but one of the 10 children are mentally retarded. The IQ was 50 or below in 5, between 60 and 81 in 4, and 91 in one. The retardation has been nonprogressive during the period of observation, but since the eldest child is only ten years old, the mental status of adult life is unknown. The children are somewhat clumsy, but neurological examination revealed only minimal evidence of organic brain disease. No consistent abnormal laboratory data have been demonstrated. The 17-keto-steroid levels are slightly increased and are generally compatible with or slightly greater than the patient height and skeletal age. The nonesterified fatty acid (NEFA) response to human growth hormone is normal. Also normal are the growth hormone assays, the 17-hydroxysteroids, the insulin tolerance tests, the protein-bound iodine, electroencephalograms, and the karyotype. One patient had a diabetic glucose tolerance curve but was not overtly diabetic, and 2 demonstrated flattened glucose curves. In all the other children the curves were normal. A more detailed description of the clinical and endocrinologic studies will be published elsewhere (39). Case Report The birth weight of R. G. was 3,400 g, and his length was 51 cm. Pregnancy and delivery were unremarkable. The infant grew rapidly; at the age of one year he measured 88 cm in length and weighed 13.3 kg (height and weight values equivalent to an age of two years).