Cos'è la sindrome di Jeune e quando pensarci
Descrizione di un caso clinico

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal dysplasia characterised by narrow chest, short skull and skeletal abnormalities, which include, among other things, a “trident” appearance of the acetabulum and alterations metaphyseal. The narrow chest can cause neonatal respiratory failure and may be associated with persistent respiratory symptoms. Some cases are severe, while others have a benign evolution. The rate of growth is variable, but it can also be normal. Renal and hepatic failures (hepatic or nephrophytic fibrosis) have been described with variable onset. Pigmented retinal degeneration has also been observed. Cognitive development is normal. The paper describes the case of a now 18-month-old girl with typical radiologic features. She had respiratory problems during the first 12 months of life, with progressive gradual improvement. Laboratory evaluation has documented an early hepatic involvement. The treatment with ursodeoxycholic acid was beneficial and reversed enzyme levels.