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Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism)
Insights
This study details two siblings with dwarfism and constrictive pericarditis, highlighting hepatic and respiratory issues. Surgical intervention offered limited improvement, indicating a complex syndrome impacting multiple organs.
Area of Science:
- Pediatrics
- Cardiology
- Genetics
Background:
- Dwarfism is a complex condition with various underlying causes.
- Constrictive pericarditis can lead to significant morbidity, particularly in pediatric patients.
- The "mulibray" syndrome, characterized by dwarfism and other anomalies, remains poorly understood.
Abstract:
Two siblings with marked dwarfism, now 11 and 19 years of age, have been followed from infancy. The girl had frequent episodes of pneumonitis and presented at age 4 years with hepatic enlargement and ascites which proved to be due to constrictive pericarditis. The boy presented with growth failure and pseudohydrocephalus. He had fibrous dysplasia of the tibia and a pathologic fracture; acute hepatic congestion followed physical activity at age 13 years and led to the diagnosis of constrictive pericarditis. Muscle function was normal, there was no evidence for a primary liver disorder, and mental development was normal so that the coined word "mulibray" seemed inappropriate. Pericardiectomy produced only partial improvement; both patients have hepatic enlargement and continue to need diuretics. A third patient with dwarfism, frequent respiratory infections, and pericardial calcification has certain features of the syndrome.