Cerebral dwarfism: Association of braindy sfunction with growth retardation

Abstract

The clinical, neurologic, and endocrine investigations of 10 children with cerebral dysfunction and growth retardation are presented. The neurologic abnormalities include mental retardation in all children with evidence of cerebral damage in one or more of the following: neurologic examination, dysrhythmia on electroencephalography, or cerebral atrophy on pneumoencephalography. Severe microcephaly was found in six of the 10 children; growth retardation was associated with delayed skeletal maturation in all. The rise in serum immunoreactive human growth hormone (IRHGH) after arginine and insulin stimulation tests was found to be blunted in three patients; in five only the response to arginine was blunted. There was no significant increase in serum IRHGH concentration during deep sleep in five patients. Two children had a low circadian variation of plasma cortisol levels and a low rise in urinary 17-ketogenic steroids (17-KGS) during a metyrapone test. It was concluded that there was an abnormality in hypothalamic function, associated with prenatal or perinatal cerebral anoxia, resulting in a deficiency of some of the hypothalamic-releasing factors. The clinical, neurologic, and endocrine investigations of 10 children with cerebral dysfunction and growth retardation are presented. The neurologic abnormalities include mental retardation in all children with evidence of cerebral damage in one or more of the following: neurologic examination, dysrhythmia on electroencephalography, or cerebral atrophy on pneumoencephalography. Severe microcephaly was found in six of the 10 children; growth retardation was associated with delayed skeletal maturation in all. The rise in serum immunoreactive human growth hormone (IRHGH) after arginine and insulin stimulation tests was found to be blunted in three patients; in five only the response to arginine was blunted. There was no significant increase in serum IRHGH concentration during deep sleep in five patients. Two children had a low circadian variation of plasma cortisol levels and a low rise in urinary 17-ketogenic steroids (17-KGS) during a metyrapone test. It was concluded that there was an abnormality in hypothalamic function, associated with prenatal or perinatal cerebral anoxia, resulting in a deficiency of some of the hypothalamic-releasing factors.