A new syndrome found in three women is described. The symptoms consist in: (1) slowly progressive peripheral pareses in the hands and feet, starting in childhood and leading to moderate incapacity, absence of tendon reflexes and a reduced motor conduction velocity, but otherwise no neurological symptoms; (2) oligophrenia of a moderate degree; (3) premature menopause at 20–25 years of age but no signs of hypophyseal insufficiency; (4) disproportional smallness (body height 135–143 cm) with short arms and legs and acromicria. The three women were sisters in a sibship of eight children. Genealogical investigation revealed consanguinity in that the parents had the same mother. No further cases were found in the family. The mode of heredity was thus considered to be autosomal recessive. The syndrome is considered neurologically to be a heredodegenerative polyneuropathy clinically related to Charcot-Marie-Tooth’s disease but in a combination with other symptoms that does not appear to have been encountered previously. The karyotype was normal and biochemical screening, comprising especially amino-acidopathies and lipidoses, has as yet provided no pathophysiological inform
展开▼
