FAMILIAL IDIOPATHIC EDEMA IN PREPUBERTAL CHILDREN - A NEW SYNDROME

Idiopathic oedema has not been previously described in prepubertal chi ldren. Between 1977 and 1991, eighteen children (15 girls, three boys) from 13 unrelated kindreds presented with the clinical features of id iopathic oedema commencing between the neonatal period and 12 years. T hese comprised a triad of swelling, affective disturbance and function al autonomic symptoms. There was a family history of idiopathic oedema in 16 (89%) children, including all 15 girls, and of diabetes mellitu s in 12 (67%) children, suggesting a major genetic basis for the syndr ome. Laboratory investigations excluded cardiovascular, hypoproteinaem ic, allergic and obstructive causes of oedema. Adherence to a restrict ed carbohydrate diet, the avoidance of refined carbohydrate and the co rrection of precipitating weight gain controlled symptoms in most chil dren. Relapses followed dietary non-compliance and life-event stress. A neurotransmitter-based autonomic abnormality of vascular and viscera l smooth muscle tone modulated by metabolic and neuroendocrine mechani sms provides a partial explanation for this syndrome. Insulin-mediated modulation of capillary permeability to water and electrolytes may al so be involved. The pathogenesis, clinical features and management of paediatric idiopathic oedema may provide a model for the adult syndrom e.