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Familial idiopathic oedema in prepubertal children: a new syndrome
1Medical Division, Stobhill General Hospital, Glasgow.
Insights
Idiopathic edema in children presents with swelling, mood changes, and autonomic symptoms, often with a genetic link. Dietary changes and stress management are key to controlling this condition.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Autonomic Nervous System Disorders
Background:
- Idiopathic edema (swelling) has not been previously described in prepubertal children.
- This study describes a syndrome in children characterized by swelling, affective disturbance, and functional autonomic symptoms.
Observation:
- Eighteen children (15 girls, 3 boys) from 13 families presented with idiopathic edema between birth and 12 years.
- A family history of idiopathic edema (89%) and diabetes mellitus (67%) suggests a strong genetic component.
- Laboratory tests ruled out common causes of edema like cardiovascular, hypoproteinemic, allergic, or obstructive conditions.
Findings:
- Symptoms were controlled in most children by a restricted carbohydrate diet, avoiding refined carbohydrates, and managing weight gain.
- Relapses occurred with dietary non-compliance and stress.
- A neurotransmitter-based autonomic abnormality affecting smooth muscle tone, modulated by metabolic and neuroendocrine factors, is proposed.
- Insulin's role in modulating capillary permeability to water and electrolytes may also contribute.
Implications:
- This pediatric idiopathic edema syndrome may serve as a model for understanding the adult form of the condition.
- Highlights the potential genetic basis and autonomic nervous system involvement in pediatric idiopathic edema.
- Emphasizes the role of diet and metabolic factors in managing pediatric idiopathic edema.
Abstract:
Idiopathic oedema has not been previously described in prepubertal children. Between 1977 and 1991, eighteen children (15 girls, three boys) from 13 unrelated kindreds presented with the clinical features of idiopathic oedema commencing between the neonatal period and 12 years. These comprised a triad of swelling, affective disturbance and functional autonomic symptoms. There was a family history of idiopathic oedema in 16 (89%) children, including all 15 girls, and of diabetes mellitus in 12 (67%) children, suggesting a major genetic basis for the syndrome. Laboratory investigations excluded cardiovascular, hypoproteinaemic, allergic and obstructive causes of oedema. Adherence to a restricted carbohydrate diet, the avoidance of refined carbohydrate and the correction of precipitating weight gain controlled symptoms in most children. Relapses followed dietary non-compliance and life-event stress. A neurotransmitter-based autonomic abnormality of vascular and visceral smooth muscle tone modulated by metabolic and neuroendocrine mechanisms provides a partial explanation for this syndrome. Insulin-mediated modulation of capillary permeability to water and electrolytes may also be involved. The pathogenesis, clinical features and management of paediatric idiopathic oedema may provide a model for the adult syndrome.