CEREBRAL DWARFISM: HYPOTHALAMIC DYSFUNCTION AND GROWTH RETARDATION

Abstract

We have used the term “cerebral dwarfism” to describe the association of CNS dysfunction and growth retardation simulating growth hormone deficiency in four patients (Exc. Med. Int. S., 236:45,71). Ten new cases of brain dysfunction and growth retardation were studied. The neurological abnormalities include mental retardation in all the cases, microcephaly in 6/10, and evidence of cerebral damage manifested in one or more of the following: neurologic examination, dysrhythmia in EEG or cerebral atrophy on pneumoencephalography. History of brain anoxia was found in 5/10. Retarded bone age was present in all the children. In three patients the response in serum IRHGH to insulin and arginine stimulation was blunted (peak <7 ng/ml). In another four only the response to arginine was below normal. There was no increase in serum IRHGH during deep sleep in five patients. Two children that had low plasma cortisols at 8 A.M. failed to respond to metyrapone. The administration of TRF to five produced a normal increase in serum TSH levels. Thus, in cerebral dwarfism there is an abnormality in hypothalamic function, secondary to prenatal or perinatal cerebral anoxia, resulting in a deficiency of HGH and/or ACTH releasing factors. This deficiency explains the retardation in growth and skeletal maturation.Supported by NIH Grant RR-318